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Fetal anomalies v3.163 | PCNT | Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.162 | RNU4ATAC | Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.160 | XRCC4 | Arina Puzriakova Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.157 | USP14 |
Zornitza Stark gene: USP14 was added gene: USP14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 38469793 Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related Review for gene: USP14 was set to AMBER Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. Sources: Literature |
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Fetal anomalies v3.157 | PLD1 | Arina Puzriakova changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.156 | PLD1 |
Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel: Jesse Hayesmoore (Oxford Regional Genetics Laboratory) Red List (low evidence) "On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD. I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel. Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines." Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m |
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Fetal anomalies v3.155 | GRM1 | Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.154 | ADA | Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.152 | NRXN2 | Sarah Leigh Added comment: Comment on list classification: There insufficient evidence between NRXN2 variants and autism for this gene to be rated amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.151 | RRAS | Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.145 | STAMBP | Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME to Microcephaly-capillary malformation syndrome, OMIM:614261 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.142 | ROBO1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update. Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel. |
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Fetal anomalies v3.140 | SPATA5 | Arina Puzriakova Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.138 | SMARCAL1 | Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.137 | NHEJ1 | Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.133 | TUSC3 | Arina Puzriakova Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.132 | CC2D1A | Arina Puzriakova Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Intellectual developmental disorder, autosomal recessive 3, OMIM:608443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.131 | ASPM | Arina Puzriakova Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, OMIM:608716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.127 | PRX | Arina Puzriakova Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 to Dejerine-Sottas disease, OMIM; 145900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.126 | PRX |
Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature. OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX. |
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Fetal anomalies v3.123 | SLC12A6 | Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.122 | KMT2B | Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.115 | FAM111A |
Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense variant c.976T>A (p.L326I) and maternal heterozygous in-frame deletion variant c.1714_1716del (p.Ile572del, rs779963813)). |
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Fetal anomalies v3.111 | EARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2. Tag Q2_23_NHS_review was removed from gene: EARS2. |
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Fetal anomalies v3.111 | DARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2. Tag Q2_23_NHS_review was removed from gene: DARS2. |
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Fetal anomalies v3.111 | AARS2 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2. Tag Q2_23_NHS_review was removed from gene: AARS2. |
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Fetal anomalies v3.111 | EARS2 | Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.111 | DARS2 | Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.111 | AARS2 | Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | EARS2 |
Sarah Leigh Source Expert Review Green was added to EARS2. Source NHS GMS was added to EARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | DARS2 |
Sarah Leigh Source Expert Review Green was added to DARS2. Source NHS GMS was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.110 | AARS2 |
Sarah Leigh Source Expert Review Green was added to AARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.109 | ESAM |
Julia Baptista gene: ESAM was added gene: ESAM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to PMID: 36996813 Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies Review for gene: ESAM was set to GREEN Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant. Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features. Sources: Literature |
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Fetal anomalies v3.109 | TP63 | Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.108 | UQCRB | Arina Puzriakova Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.106 | SPTAN1 | Sarah Leigh Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.105 | SLC12A1 | Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.103 | CLCNKB | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.101 | CLCNKB | Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.99 | SLC22A5 | Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.98 | ATP5O | Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.96 | SLC25A24 | Sarah Leigh Added comment: Comment on phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.96 | SLC25A24 | Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.94 | SLC22A5 | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.93 | SLC22A5 | Sarah Leigh Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.89 | ETFB | Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.88 | ETFA | Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.86 | PRKACB |
Arina Puzriakova gene: PRKACB was added gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACB. Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143 Penetrance for gene: PRKACB were set to unknown Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Fetal anomalies v3.85 | PRKACA |
Arina Puzriakova gene: PRKACA was added gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACA. Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 33058759; 31130284 Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142 |
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Fetal anomalies v3.84 | CHUK | Arina Puzriakova Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Cocoon syndrome, OMIM:613630; Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.81 | GRIN2B | Arina Puzriakova Phenotypes for gene: GRIN2B were changed from AUTISM; EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.78 | WNT9B | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. Rating Amber as to date, only two cases have been reported in one paper but with a watchlist tag to monitor for additional cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.77 | WLS | Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.70 | MECOM | Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.68 | WARS2 | Arina Puzriakova Publications for gene: WARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.67 | VARS2 | Arina Puzriakova Publications for gene: VARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.49 | PET100 | Arina Puzriakova Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 to Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.44 | PC | Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, OMIM:266150; PYRUVATE CARBOXYLASE DEFICIENCY to Pyruvate carboxylase deficiency, OMIM:266150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.41 | NDUFS1 | Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.36 | NDUFB11 | Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.35 | NDUFB10 | Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003 to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.21 | EARS2 | Arina Puzriakova Publications for gene: EARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.20 | EARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: EARS2. Tag Q2_23_NHS_review tag was added to gene: EARS2. |
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Fetal anomalies v3.18 | DARS2 | Arina Puzriakova Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.17 | DARS2 | Arina Puzriakova Publications for gene: DARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.16 | DARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DARS2. Tag Q2_23_NHS_review tag was added to gene: DARS2. |
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Fetal anomalies v3.10 | AARS2 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AARS2. Tag Q2_23_NHS_review tag was added to gene: AARS2. |
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Fetal anomalies v3.10 | AARS2 | Arina Puzriakova Phenotypes for gene: AARS2 were changed from Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; fetal hydrops; cardiomyopathy; polyhydramnios; Combined oxidative phosphorylation deficiency 8, OMIM:614096; pulmonary effusion to Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Combined oxidative phosphorylation deficiency 8, OMIM:614096; fetal hydrops; cardiomyopathy; polyhydramnios; pulmonary effusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.9 | AARS2 | Arina Puzriakova Publications for gene: AARS2 were set to 30819764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | ZMYM2 | Stephanie Allen commented on gene: ZMYM2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | CLCN4 | Stephanie Allen commented on gene: CLCN4: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MECOM | Stephanie Allen commented on gene: MECOM: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TRMU | Stephanie Allen commented on gene: TRMU: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFA12 | Stephanie Allen commented on gene: NDUFA12: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | WARS2 | Stephanie Allen commented on gene: WARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | VARS2 | Stephanie Allen commented on gene: VARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | UQCC2 | Stephanie Allen commented on gene: UQCC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TXN2 | Stephanie Allen commented on gene: TXN2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TRIT1 | Stephanie Allen commented on gene: TRIT1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TMEM65 | Stephanie Allen commented on gene: TMEM65: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | POLG | Stephanie Allen commented on gene: POLG: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFV2 | Stephanie Allen commented on gene: NDUFV2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFC2 | Stephanie Allen commented on gene: NDUFC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB7 | Stephanie Allen commented on gene: NDUFB7: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NADK2 | Stephanie Allen commented on gene: NADK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MTPAP | Stephanie Allen commented on gene: MTPAP: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | UQCRFS1 | Stephanie Allen commented on gene: UQCRFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | TK2 | Stephanie Allen commented on gene: TK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PNPLA8 | Stephanie Allen commented on gene: PNPLA8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PET100 | Stephanie Allen commented on gene: PET100: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PDHX | Stephanie Allen commented on gene: PDHX: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PDHB | Stephanie Allen commented on gene: PDHB: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PC | Stephanie Allen commented on gene: PC: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFS1 | Stephanie Allen commented on gene: NDUFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB3 | Stephanie Allen commented on gene: NDUFB3: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB11 | Stephanie Allen commented on gene: NDUFB11: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB10 | Stephanie Allen commented on gene: NDUFB10: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFAF8 | Stephanie Allen commented on gene: NDUFAF8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFA6 | Stephanie Allen commented on gene: NDUFA6: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MTFMT | Stephanie Allen commented on gene: MTFMT: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MRPS14 | Stephanie Allen commented on gene: MRPS14: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | EARS2 | Stephanie Allen commented on gene: EARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | DARS2 | Stephanie Allen commented on gene: DARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | AARS2 | Stephanie Allen commented on gene: AARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | ZMYM2 | Stephanie Allen reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | AGTR1 | Stephanie Allen reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MECOM | Stephanie Allen reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29540340, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | WARS2 | Stephanie Allen reviewed gene: WARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30920170, 28905505, 35074316, 29783990; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | VARS2 | Stephanie Allen reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33937156, 29314548, 29478218; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM:615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | UQCRFS1 | Stephanie Allen reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | UQCC2 | Stephanie Allen reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | SLC25A46 | Stephanie Allen reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 28653766, 35012485, 27543974, 26951855; Phenotypes: Pontocerebellar hypoplasia, type 1E, OMIM:619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | SLC25A1 | Stephanie Allen reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23393310, 24687295, 25614306; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | SDHD | Stephanie Allen reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: ; Publications: 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PET100 | Stephanie Allen reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: 25293719; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | PC | Stephanie Allen reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30870574, 29752808, 34485016, 10323732; Phenotypes: Pyruvate carboxylase deficiency, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFV2 | Stephanie Allen reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFS1 | Stephanie Allen reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20382551, 31557978; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFC2 | Stephanie Allen reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32969598; Phenotypes: Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB7 | Stephanie Allen reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB3 | Stephanie Allen reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22277967; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB11 | Stephanie Allen reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFB10 | Stephanie Allen reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 28040730; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFAF8 | Stephanie Allen reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFA6 | Stephanie Allen reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | NDUFA12 | Stephanie Allen reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: 32341820, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MTFMT | Stephanie Allen reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27393152, 30911575; Phenotypes: Combined oxidative phosphorylation deficiency 15, OMIM:614947, Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MPC2 | Stephanie Allen reviewed gene: MPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36417180; Phenotypes: Mitochondrial pyruvate carrier deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | MPC1 | Stephanie Allen reviewed gene: MPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34873722, 31145700; Phenotypes: Mitochondrial pyruvate carrier deficiency, OMIM:614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | EARS2 | Stephanie Allen reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27571996, 31680123; Phenotypes: Combined oxidative phosphorylation deficiency 12, OMIM:614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | DARS2 | Stephanie Allen reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977142; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | COX14 | Stephanie Allen reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: 22243966; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | COQ7 | Stephanie Allen reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26084283, 31240163; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | COA6 | Stephanie Allen reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: 22277967, 25339201; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.8 | AARS2 | Stephanie Allen reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819764, 28822227, 21549344; Phenotypes: Combined oxidative phosphorylation deficiency 8, OMIM:614096, Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | ZMYM2 |
Arina Puzriakova gene: ZMYM2 was added gene: ZMYM2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 |
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Fetal anomalies v3.7 | AGTR1 |
Arina Puzriakova gene: AGTR1 was added gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430 |
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Fetal anomalies v3.7 | MECOM | Arina Puzriakova Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 for gene: MECOM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | PET100 | Arina Puzriakova Added phenotypes Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 for gene: PET100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | NDUFB10 | Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 for gene: NDUFB10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | PC |
Arina Puzriakova Source Expert Review Amber was added to PC. Added phenotypes Pyruvate carboxylase deficiency, OMIM:266150 for gene: PC Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Fetal anomalies v3.7 | NDUFS1 |
Arina Puzriakova Source Expert Review Amber was added to NDUFS1. Added phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 for gene: NDUFS1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Fetal anomalies v3.7 | DARS2 |
Arina Puzriakova Source Expert Review Amber was added to DARS2. Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 for gene: DARS2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Fetal anomalies v3.7 | SDHD |
Arina Puzriakova gene: SDHD was added gene: SDHD was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167 |
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Fetal anomalies v3.7 | NDUFA12 |
Arina Puzriakova gene: NDUFA12 was added gene: NDUFA12 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
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Fetal anomalies v3.7 | WARS2 |
Arina Puzriakova gene: WARS2 was added gene: WARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 |
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Fetal anomalies v3.7 | VARS2 |
Arina Puzriakova gene: VARS2 was added gene: VARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM:615917 |
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Fetal anomalies v3.7 | UQCRFS1 |
Arina Puzriakova gene: UQCRFS1 was added gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 |
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Fetal anomalies v3.7 | UQCC2 |
Arina Puzriakova gene: UQCC2 was added gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 |
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Fetal anomalies v3.7 | SLC25A46 |
Arina Puzriakova gene: SLC25A46 was added gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303 |
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Fetal anomalies v3.7 | SLC25A1 |
Arina Puzriakova gene: SLC25A1 was added gene: SLC25A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182 |
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Fetal anomalies v3.7 | NDUFV2 |
Arina Puzriakova gene: NDUFV2 was added gene: NDUFV2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 |
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Fetal anomalies v3.7 | NDUFC2 |
Arina Puzriakova gene: NDUFC2 was added gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170 |
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Fetal anomalies v3.7 | NDUFB7 |
Arina Puzriakova gene: NDUFB7 was added gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 |
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Fetal anomalies v3.7 | NDUFB3 |
Arina Puzriakova gene: NDUFB3 was added gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 |
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Fetal anomalies v3.7 | NDUFAF8 |
Arina Puzriakova gene: NDUFAF8 was added gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
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Fetal anomalies v3.7 | NDUFA6 |
Arina Puzriakova gene: NDUFA6 was added gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 |
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Fetal anomalies v3.7 | MTFMT |
Arina Puzriakova gene: MTFMT was added gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248 |
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Fetal anomalies v3.7 | MPC2 |
Arina Puzriakova gene: MPC2 was added gene: MPC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC2 were set to Mitochondrial pyruvate carrier deficiency |
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Fetal anomalies v3.7 | MPC1 |
Arina Puzriakova gene: MPC1 was added gene: MPC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, OMIM:614741 |
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Fetal anomalies v3.7 | EARS2 |
Arina Puzriakova gene: EARS2 was added gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924 |
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Fetal anomalies v3.7 | COX14 |
Arina Puzriakova gene: COX14 was added gene: COX14 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053 |
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Fetal anomalies v3.7 | COQ7 |
Arina Puzriakova gene: COQ7 was added gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733 |
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Fetal anomalies v3.7 | COA6 |
Arina Puzriakova gene: COA6 was added gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 |
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Fetal anomalies v3.7 | AARS2 |
Arina Puzriakova Source Expert Review Amber was added to AARS2. Added phenotypes Combined oxidative phosphorylation deficiency 8, OMIM:614096; Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889 for gene: AARS2 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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Fetal anomalies v3.5 | CDX2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). At least 8 unrelated families reported with de novo or inherited pathogenic variants in CDX2. Phenotypic findings comprise a broad spectrum of caudal abnormalities including defects of the uro‐recto‐genital tract, vertebrae, and the limbs. Cdx2 mutant mice show a variable phenotype that is comparable to that of patients (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies). Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update. |
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Fetal anomalies v3.2 | KIF21A |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to recommend this gene to NHS GMS for promoting to green rating. There are two unrelated families with homozygous loss of function variants in KIF21A were reported with severe fetal akinesia with arthrogryposis multiplex in PMID:34740919. Hannah Robinson (South West Genomic Laboratory Hub) reported an additional case identified in Exeter Genomics Laboratory exhibiting homozygous nonsense variant in KIF21A and was diagnosed with arthrogryposis. In addition, PMID:32686171 reports overlapping phenotypes observed in KIF21A null piglets, where a 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita. |
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Fetal anomalies v3.1 | AARS2 |
Patrick Campbell gene: AARS2 was added gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 30819764 Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy Penetrance for gene: AARS2 were set to Complete Mode of pathogenicity for gene: AARS2 was set to Other Review for gene: AARS2 was set to GREEN Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy. Consideration should be given to adding the gene to R21. Sources: NHS GMS |
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Fetal anomalies v2.17 | SMARCC1 | Eleanor Williams Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.16 | SMARCC1 | Eleanor Williams Tag gene-checked was removed from gene: SMARCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.14 | PLXND1 |
Achchuthan Shanmugasundram gene: PLXND1 was added gene: PLXND1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were set to 35396997 Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660 Review for gene: PLXND1 was set to GREEN Added comment: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles. This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM. Sources: Literature |
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Fetal anomalies v2.13 | SELENON | Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 to Muscular dystrophy, rigid spine, 1, OMIM:602771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.11 | RAB39B | Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | LARS2 | Arina Puzriakova Tag Q2_21_rating was removed from gene: LARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.10 | LARS2 | Arina Puzriakova commented on gene: LARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.9 | LARS2 |
Arina Puzriakova Source Expert Review Green was added to LARS2. Source NHS GMS was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v2.8 | KIF21A |
Hannah Robinson gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to 34740919 Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia Penetrance for gene: KIF21A were set to unknown Review for gene: KIF21A was set to GREEN gene: KIF21A was marked as current diagnostic Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms. Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth. Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association. Sources: Literature, NHS GMS |
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Fetal anomalies v2.7 | PAFAH1B1 | Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from LISSENCEPHALY TYPE 1; SUBCORTICAL BAND HETEROTOPIA to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.5 | DDX3X | Arina Puzriakova Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.4 | COX10 | Arina Puzriakova Phenotypes for gene: COX10 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v2.1 | GRM1 | Zornitza Stark reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.993 |
Eleanor Williams List of related panels changed from R21; Fetal anomalies with a likely genetic cause to R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off |
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Fetal anomalies v1.992 | TAB2 | Arina Puzriakova Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Congenital heart defects, nonsyndromic, 2, OMIM:614980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.991 | PRIM1 | Eleanor Williams Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.990 | KDM5C | Arina Puzriakova Phenotypes for gene: KDM5C were changed from MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED to Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.988 | KDM5C |
Arina Puzriakova Added comment: Comment on mode of inheritance: A subset of female carriers have been shown to have impaired intellectual development and/or developmental delay (PMIDs: 10982473; 16538222; 18697827; 19826449; 21575681; 32279304) showing that females can be symptomatic. Therefore, the MOI should be updated from 'X-linked.. biallelic in females' to 'X-linked.. monoallelic in females may cause disease' at the next GMS panel update. This also reflects the current MOI on all other relevant panels. |
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Fetal anomalies v1.987 | HBA2 | Arina Puzriakova Phenotypes for gene: HBA2 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.986 | HBA1 | Arina Puzriakova Phenotypes for gene: HBA1 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.985 | GRM1 | Arina Puzriakova Phenotypes for gene: GRM1 were changed from CONGENITAL CEREBELLAR ATAXIA to Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.984 | GDF1 | Arina Puzriakova Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.983 | GATM | Arina Puzriakova Phenotypes for gene: GATM were changed from ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 3, OMIM:612718 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.981 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.980 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; progressive osseous heteroplasia, MONDO:0008153; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.979 | GNAS | Sarah Leigh Added comment: Comment on mode of inheritance: Disease causing variants in the GNAS locus have differing expression panels. Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal alleles, therefore, the mode of inheritance (MOI) for GNAS in these conditions should be monoallelic maternally imprinted. Pseudopseudohypoparathyroidism, OMIM:612463 and Osseous heteroplasia, progressive, OMIM:166350 are associated with variants in the paternal alleles therefore, the mode of inheritance for GNAS in these conditions should be monoallelic paternally imprinted. Because the Fetal anomalies panel is representing various phenotypes, the MOI has been set to monoallelic, imprinted status unknown. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.978 | GNAS | Sarah Leigh Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION; ALBRIGHT HEREDITARY OSTEODYSTROPHY; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; PSEUDOHYPOPARATHYROIDISM TYPE 1B to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.977 | AP1S2 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease). |
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Fetal anomalies v1.977 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROR2-RELATED DISORDERS AR; BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.975 | DSP | Arina Puzriakova Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Keratosis palmoplantaris striata II, 612908; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Skin fragility-woolly hair syndrome 607655; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Epidermolysis bullosa, lethal acantholytic 609638 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR); Skin fragility-woolly hair syndrome, OMIM:607655 (AR); Keratosis palmoplantaris striata II, OMIM:612908 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.974 | COL1A2 | Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the MOI as both mono and biallelic for now, but only Ehlers-Danlos syndrome, cardiac valvular type is associated with biallelic variants and this does not seem relevant to the fetal panel. Recommendation to change to Monoallelic only, if the GMS groups agree. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.969 | ST3GAL3 | Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.967 | SETD2 | Arina Puzriakova Mode of pathogenicity for gene: SETD2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.964 | SETD2 | Rhiannon Mellis reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 32710489, 33255631; Phenotypes: microcephaly, profound intellectual disability, congenital anomalies, dysmorphic facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.948 | NDUFB10 | Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.945 | MYBPC3 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype. Note that the two fetal cases reported in literature harboured homozygous variants (PMID:19858127; 28749478) although expert reviewer suggests an MOI of 'both mono- and biallelic' |
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Fetal anomalies v1.934 | ENG | Arina Puzriakova Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.928 | DEPDC5 | Arina Puzriakova Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI to Epilepsy; Structural brain malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.920 | CACNA1D | Arina Puzriakova Mode of pathogenicity for gene: CACNA1D was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.917 | CACNA1D | Arina Puzriakova Phenotypes for gene: CACNA1D were changed from PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; SINOATRIAL NODE DYSFUNCTION AND DEAFNESS to Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.916 | C1QBP | Arina Puzriakova Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, OMIM:617713; Cardiomyopathy; Myopathy; Metabolic acidosis; Ologohydramnios | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.914 | ASXL3 | Arina Puzriakova Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.909 | AGT | Arina Puzriakova Phenotypes for gene: AGT were changed from Renal dysgenesis to Renal tubular dysgenesis, OMIM:267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.907 | ACVRL1 | Arina Puzriakova Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.905 | WNT7B |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Three families reported with fetuses with multiple congenital anomalies (PMID: 35790350). Biallelic variants were identified in probands of two families and parents in third family were both heterozygous for a variant found in one of the other families. Although the fetus was not available for testing, the genotype can be inferred as homozygous for the variant given the consistent phenotype between cases. Supportive zebrafish model supports pathogenicity. |
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Fetal anomalies v1.904 | RAB11A | Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber for now, but with a recommendation of GREEN rating following GMS expert review as to whether the brain anomaly/microcephaly phenotype observed in 5 individuals with missense variants in RAB11A is appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.902 | RAB11A | Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants but no functional data available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.900 | RAB11A |
Eleanor Williams changed review comment from: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant) in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum. PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, mylation abnormalites).; to: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant) in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum. PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, myelination abnormalites). |
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Fetal anomalies v1.900 | DEPDC5 |
Rhiannon Mellis commented on gene: DEPDC5: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): Intellectual disability, Genetics epilepsies. Amber on cortical malformations panel. Details of review: Previously reviewed as Red because only associated with familial epilepsy without structural brain anomalies (AD - caused by het LOF variants) but data presented by Dr Lara Menzies at CGS Spring Meeting 2021 suggests that there may also be a biallelic phenotype with hypomorphic variants. 5 cases presented from 3 unrelated Irish traveller families with significant polymicrogyria and macrocephaly as well as seizures and severe dev delay. At least 2 of the cases had prenatal features: ventriculomegaly, macrocephaly and IUGR for one, polymicrogyria on MRI for another - fetal MRI done because of FHx of affected child. (Unpublished data) Liu et al 2020 (PMID: 32848577) report one case with homozygous missense variants in this gene, who had focal cortical dysplasia and seizures from 3yo |
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Fetal anomalies v1.900 | ENG |
Rhiannon Mellis gene: ENG was added gene: ENG was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 Review for gene: ENG was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Consistency check because out of 4 known HHT genes EPHB4 and SMAD4 are on the fetal anomalies panel but ACVRL1 and ENG are not. No specific published reports of ENG variants detected prenatally but correlates with pulmonary AVMs which can present neonatally and can be detected on prenatal US (PMID: 17719943; PMID: 21988128). Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | ACVRL1 | Rhiannon Mellis reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27381467, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.900 | MRPS16 |
Rhiannon Mellis gene: MRPS16 was added gene: MRPS16 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to PMID: 28749478 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2 Review for gene: MRPS16 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Amber on mitochondrial/inborn errors of metabolism etc. Not Green on any panel. One previous case reported with "agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the limbs, brachydactyly, and redundant skin over the neck. She died of intractable metabolic acidosis at age 3 days." PMID:15505824 (2004). One further fetal case reported by Shamseldin et al. 2018 (PMID: 28749478) with hydrops, very short long bones, and partial ACC Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | THSD1 |
Rhiannon Mellis gene: THSD1 was added gene: THSD1 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to PMID: 28749478; 26036949 Phenotypes for gene: THSD1 were set to Intracerebral aneurysms; ?Hydrops fetalis Review for gene: THSD1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Details of review: Not currently Green on any panels. Amber on Cerebral vascular malformations. (Heterozygous mutations identified in nine families with intracerebral aneurysms plus animal models but unclear on penetrance.) Shamseldin et al 2018 (PMID: 28749478) report a fetal case with hydrops and a HOMOZYGOUS likely pathogenic variant in THSD1. The same group previously identified this same founder mutation in THSD1 in another 3 families with hydrops/oedema (PMID: 26036949) Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | MYBPC3 |
Rhiannon Mellis gene: MYBPC3 was added gene: MYBPC3 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy; ?Congenital myopathy Review for gene: MYBPC3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Currently rated Green on the following other PanelApp panel(s): Various cardiomyopathy panels. Amber on congenital myopathy panel. Details of review: Previously only one (AR) case with skeletal muscle phenotype, although is a known cardiomyopathy gene (PMID: 19858127). One fetal case reported by Shamseldin et al 2018 (PMID: 28749478) with hydrops. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | CACNA1S |
Rhiannon Mellis gene: CACNA1S was added gene: CACNA1S was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to PMID: 33060286; 28012042 Phenotypes for gene: CACNA1S were set to Congenital myopathy; arthrogryposis Review for gene: CACNA1S was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Previously only monoallelic variants reported associated with malignant hyperthermia and periodic paralysis but more recently biallelic variants have been associated with congenital myopathy. In Ravenscroft et al 2020 (PMID: 33060286) the reported biallelic variants were VUS but strong suspicion of causality: the proband had polyhydramnios, scalp oedema, bilateral wrist contractures, bilateral talipes and reduced fetal movements, ToP at 26/40. Mild facial dysmorphic features were noted on autopsy, including low anterior hairline, mild hypertelorism and moderate retrognathia. A previous pregnancy was affected with polyhydramnios and reduced fetal movements, delivered at 32/40 due to placental abruption and died at 10 days. On photos the baby had ptosis and broad nasal tip. The biallelic variants segregated within the family (parents and the 2 unaffected sibs all het). No cell lines available for functional studies. Another study (PMID: 28012042) reports 7 families with congenital myopathy and CACNA1S mutations (both recessive and dominant), of whom 3 had cases with antenatal onset (reduced fetal movements). Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | NDUFB10 |
Rhiannon Mellis gene: NDUFB10 was added gene: NDUFB10 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730 Phenotypes for gene: NDUFB10 were set to Mitochondrial complex I deficiency Review for gene: NDUFB10 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any other panels (Amber/Red because only 1 case reported, with functional studies). Causes Mitochondrial complex 1 deficiency. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Non-immune hydrops fetalis and died after birth. The previous reported case on OMIM (from PMID: 28040730) was a female infant with IUGR, hydrops, lung hypoplasia and fetal cardiomyopathy - neonatal death with rapidly progressive lactic acidosis and PM found decreased complex 1 activity in skeletal muscle, heart, liver. Previous child of parents also had hydrops and died on day 1 of life. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | FTO |
Rhiannon Mellis gene: FTO was added gene: FTO was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117 Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism Review for gene: FTO was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any panels (only 2 families reported to date). On OMIM: Growth retardation, developmental delay, facial dysmorphism. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Dandy-Walker malformation, IUGR, and polyhydramnios. This fits with the phenotype reported in one consanguineous family with 9 affected individuals reported by Boissel 2009 PMID: 19559399. The other reported case is PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with growth retardation, failure to thrive, severely delayed development, Dysmorphic facial features, decreased brain parenchyma, delayed myelination, and a thin corpus callosum. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | CACNA1D | Rhiannon Mellis reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 32410215; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.900 | ASXL3 |
Rhiannon Mellis edited their review of gene: ASXL3: Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but still limited evidence, support keeping as Amber gene for now. Details of review: Previously reviewed as Amber as 2 fetal cases in literature: one from PMID: 32565546 with short CC and metopic synostosis, one from PMID: 29316359 with distal arthrogryposis and cerebellar vermian hypoplasia. Now there is one more fetal case reported with arthrogryposis - PMID: 33820833; Changed publications to: PMID: 33820833; Changed phenotypes to: Arthrogryposis |
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Fetal anomalies v1.900 | UNC13D |
Rhiannon Mellis gene: UNC13D was added gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to PMID: 33249554 Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis Review for gene: UNC13D was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency Details of review: One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia. Sources: Literature, Expert Review |
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Fetal anomalies v1.900 | C1QBP | Rhiannon Mellis reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32304219; Phenotypes: Combined oxidative phosphorylation deficiency 33, Cardiomyopathy, Myopathy, Metabolic acidosis, Ologohydramnios; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.900 | SERPINA11 |
Rhiannon Mellis gene: SERPINA11 was added gene: SERPINA11 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478 Phenotypes for gene: SERPINA11 were set to ?Hydrops fetalis Review for gene: SERPINA11 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene to watch for further evidence. Not currently rated Green on any other PanelApp panel(s). Details of review: No OMIM disease association currently. Reported as a novel genotype-phenotype association in Aggarwal 2020 (PMID: 31742715) in a fetus with homozygous nonsense variant. Fetus presented with pericardial effusion and on post-mortem was found to have serous cavity effusions, and generalised blebs of gelatinous material on the visceral surfaces. Histopathology and stains showed derangement of ECM and collagen fibres. Consanguineous couple with one similarly affected previous pregnancy. This gene is also reported in Shamseldin et al 2018 (PMID: 28749478) as a candidate gene in a fetus with hydrops. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | LOX |
Rhiannon Mellis gene: LOX was added gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOX were set to PMID: 31742715 Phenotypes for gene: LOX were set to Aortopathy Review for gene: LOX was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): familial thoracic aortic aneurysm Details of review: Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm) Sources: Expert Review, Literature |
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Fetal anomalies v1.899 | TMEM70 | Arina Puzriakova Phenotypes for gene: TMEM70 were changed from MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 to IUGR; Oligohydramnios; Anhydramnios; Cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.892 | PLD1 | Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093 to Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.889 | NEXN | Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, hypertrophic, 20, OMIM:613876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.884 | NDUFB11 | Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME to Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.882 | MED13L | Arina Puzriakova Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.880 | NDUFB11 | Rhiannon Mellis reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25772934; Phenotypes: Linear skin defects, cardiomyopathy, ACC; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.880 | TMEM70 | Rhiannon Mellis reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21147908, PMID: 24740313, PMID: 26550569, PMID: 20335238, PMID: 25326274; Phenotypes: IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.880 | SPTA1 |
Rhiannon Mellis gene: SPTA1 was added gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484 Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia Review for gene: SPTA1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops. Currently rated Green on the following other PanelApp panel(s): Congenital anaemias Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia. Sources: Literature, Expert Review |
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Fetal anomalies v1.880 | PLOD3 |
Rhiannon Mellis gene: PLOD3 was added gene: PLOD3 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency; IUGR; Contractures Review for gene: PLOD3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: May be fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending more evidence. Rated Green on the following other PanelApp panel(s): Cataracts Details of review: Phenotype on OMIM includes potentially fetally detectable phenotypes: IUGR, contractures, cataracts (?whether congenital). Salo et al 2008 (PMID: 18834968) describes a proband with IUGR, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, and downturned corners of the mouth. Skeletal features included talipes equinovarus, progressive scoliosis, osteopenia, and several pathologic fractures. A sib had IUGR and was stillborn, with finger contractures (but didn't seem to have molecular testing?). The fetal case in Cao et al 2021 had NT 5.2 mm (12/40), Reduced fetal movement (12/40), FGR (24/40), Enlarged posterior fossa (24/40), Intracranial haemorrhage (24/40), Clenched hands and fixated extended knees (24/40). Sources: Literature, Expert Review |
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Fetal anomalies v1.880 | PLD1 | Rhiannon Mellis reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350; Phenotypes: Cardiomyopathy, Congenital heart malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.880 | NEXN |
Rhiannon Mellis gene: NEXN was added gene: NEXN was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: NEXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564 Phenotypes for gene: NEXN were set to Cardiomyopathy Review for gene: NEXN was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Gene usually causes adult-onset AD cardiomyopathy. However, there may be a fetally relevant phenotype with biallelic variants. Support adding to the Fetal anomalies panel as an Amber gene, pending more evidence of fetal phenotype (only 2 reported unrelated cases to date). Currently rated Green on the following other PanelApp panel(s): Cardiomyopathy (dilated) Details of review: The fetal case in Sparks et al (PMID: 33027564) had pericardial effusion, ascites, cardiomegaly, dilation and hypertrophy of cardiac ventricles, hypoplastic and dysplastic aortic valve, diminished systolic function, fetal growth restriction, and was stillborn. 2 NEXN variants found in the fetus (1 mat inherited, 1 de novo) but unable to confirm phase. The fetal case in Rinaldi et al 2021 (PMID: 32058062) had Cardiomegaly, low contractility/outflow, fibroelastosis of right ventricle. The fetus was compound het for NEXN variants and parents were both unaffected het with normal echos. They'd had one previous pregnancy with same phenotype. Sources: Literature, Expert Review |
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Fetal anomalies v1.880 | MED13L | Rhiannon Mellis reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350, PMID: 32058062; Phenotypes: Intellectual disability, dysmorphic features, congenital heart malformations, talipes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.879 | LONP1 | Arina Puzriakova commented on gene: LONP1: Added 'watchlist_moi' tag to monitor recently reported association with congenital diaphragmatic hernia as highlighted in review by Zornitza Stark (Australian Genomics) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.877 | ZFPM2 | Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on the evidence provided in review by Anna de Burca. Gene-disease association is classified with 'limited' confidence in G2P. Cases indicate reduced penetrance and no functional studies of variants relating to diaphragmatic hernia have been reported thus far. Gene is also associated with other phenotypes with limited support. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.873 | WNT7B |
Julia Baptista gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects Review for gene: WNT7B was set to GREEN Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected. Animal studies in Danio rerio were supportive. Lung hypoplasia with tracheal, ocular, cardiac, and renal defects. Sources: Expert Review |
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Fetal anomalies v1.873 | MTM1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported, including a heterozygous female with prenatal/neonatal onset (PMID: 12707446). MOI should therefore be updated form XLR to XLD at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.872 | MTM1 | Arina Puzriakova Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myopathy, centronuclear, X-linked, OMIM:310400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.871 | ARHGAP29 | Eleanor Williams Publications for gene: ARHGAP29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.868 | CYP11B1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Only biallelic MOI is relevant to this panel, causing Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010, characterised by androgen excess, virilization, and hypertension (can be detected prenatally by increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid). On the other hand, AD disease arises in the form of familial hyperaldosteronism/hypertension in childhood to early adulthood and therefore should be excluded from the fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.865 | CYP11A1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.864 | ZFPM2 |
Anna de Burca gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 24702427 Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia Penetrance for gene: ZFPM2 were set to Incomplete Review for gene: ZFPM2 was set to AMBER Added comment: Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot. Sources: Literature |
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Fetal anomalies v1.862 | PLCB4 | Eleanor Williams Added comment: Comment on list classification: Leaving the rating of this gene as amber just now, but there are sufficient cases to promote to green following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.860 | PLCB4 | Eleanor Williams reviewed gene: PLCB4: Rating: ; Mode of pathogenicity: None; Publications: 22560091, 23315542, 28328130, 23913798; Phenotypes: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.860 | SMARCC1 | Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.860 | ARHGAP29 | Catherine Snow Tag gene-checked tag was added to gene: ARHGAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.859 | FH | Arina Puzriakova Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, OMIM:606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.858 | COL1A2 |
Eleanor Williams changed review comment from: The mode of inheritance for the following phenotypes is monoallelic. - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.; to: Variants in this gene are associated with the following phenotypes in OMIM with a monoallelic mode of inheritance: - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance. |
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Fetal anomalies v1.856 | LIFR | Eleanor Williams Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome; Schwartz-Jampel type 2 syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.854 | LIFR |
Eleanor Williams changed review comment from: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis.; to: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis. The paper describing the CAKUT cases is PMID: 28334964 (Kosfeld et al 2017). |
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Fetal anomalies v1.847 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.845 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SPARC | Arina Puzriakova Tag for-review was removed from gene: SPARC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCE1 | Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCC1 | Arina Puzriakova Tag Q2_21_rating was removed from gene: SMARCC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARHGAP29 | Arina Puzriakova Tag for-review was removed from gene: ARHGAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARFGEF2 | Arina Puzriakova Tag for-review was removed from gene: ARFGEF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SPARC | Arina Puzriakova commented on gene: SPARC: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCE1 | Arina Puzriakova commented on gene: SMARCE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | SMARCC1 | Arina Puzriakova commented on gene: SMARCC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARHGAP29 | Arina Puzriakova commented on gene: ARHGAP29: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | ARFGEF2 | Arina Puzriakova commented on gene: ARFGEF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | SPARC |
Arina Puzriakova Source Expert Review Green was added to SPARC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | SMARCE1 |
Arina Puzriakova Source Expert Review Green was added to SMARCE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | SMARCC1 |
Arina Puzriakova Source Expert Review Green was added to SMARCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | ARHGAP29 |
Arina Puzriakova Source Expert Review Green was added to ARHGAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | ARFGEF2 |
Arina Puzriakova Source Expert Review Green was added to ARFGEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.834 | LTBP3 | Eleanor Williams Added comment: Comment on mode of inheritance: Recommending that the mode of inheritance should be updated to Both mono- and bi-allelic as relevant phenotypes associated with this gene are associated with both mono (geleophysic dysplasia) and biallelic (dental anomalies and short stature) variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.833 | POU1F1 | Arina Puzriakova Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.830 | HSF4 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic'. The expanded MOI is based on autosomal recessive cataract cases in PMID:19014451; 24045990; 26490182. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.829 | HSF4 | Arina Puzriakova Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.827 | RAC3 |
Rhiannon Mellis gene: RAC3 was added gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 30293988; 29276006 Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAC3 was set to GREEN Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child. Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients. All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance). Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family. Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006). Sources: Literature, Expert Review, NHS GMS |
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Fetal anomalies v1.826 | CDX2 |
Dmitrijs Rots gene: CDX2 was added gene: CDX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to PMID: 34671974 Phenotypes for gene: CDX2 were set to Multiple congenital anomalies Penetrance for gene: CDX2 were set to unknown Review for gene: CDX2 was set to GREEN Added comment: Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype. Sources: Literature |
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Fetal anomalies v1.823 | MYO5B | Arina Puzriakova Phenotypes for gene: MYO5B were changed from MICROVILLUS INCLUSION DISEASE to Diarrhea 2, with microvillus atrophy, OMIM:251850 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.822 | TLL1 | Ivone Leong Entity copied from Familial non syndromic congenital heart disease v1.70 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.820 | PIEZO1 | Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from hydrops fetalis gene 616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.819 | TAB2 | Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Rasopathy-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.817 | RNASEH2B | Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from AICARDI-GOUTIERES SYNDROME 2 to Aicardi-Goutieres syndrome 2, OMIM:610181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.816 | IFIH1 | Arina Puzriakova Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250 to Aicardi-Goutieres syndrome 7, OMIM:615846; Singleton-Merten syndrome 1, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.815 | EXOSC3 | Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B, OMIM:614678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.813 | KIDINS220 | Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.811 | CLPB | Arina Puzriakova Added comment: Comment on mode of inheritance: Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease. No prenatal findings were specifically mentioned but given the otherwise comparable clinical presentations, monoallelic inheritance may also be of relevance to this panel. Therefore, will flag this for further GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.810 | CLPB | Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.809 | AR | Arina Puzriakova Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY to ANDROGEN INSENSITIVITY SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.808 | FMR1 | Arina Puzriakova Phenotypes for gene: FMR1 were changed from FRAGILE X SYNDROME; FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.806 | DMPK | Arina Puzriakova Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.802 | CNBP_CCTG |
Arina Puzriakova STR: CNBP_CCTG was added STR: CNBP_CCTG was added to Fetal anomalies. Sources: Expert Review STR, NGS Not Validated tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668 Added comment: The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30. The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent. ----- Copied from Rhiannon Mellis (GOSH) review of gene CNBP on Fetal anomalies panel: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Expert Review |
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Fetal anomalies v1.801 | CNBP | Arina Puzriakova changed review comment from: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity.; to: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity. STR added separately. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.800 | CNBP | Arina Puzriakova Mode of pathogenicity for gene: CNBP was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.796 | MMP15 |
Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 33875846 describes 3 patients from 2 families with biallelic variants in MMP15 (one is Pro353fs and other is Gly231Arg). One family with 2 affected siblings presented with cholestasis, hepatomegaly, high hepatic transaminases, and congenital heart disease. The other unrelated case showed similar symptoms. As there are only 2 cases and currently there are no animal models that replicate the human phenotype this gene has been given an Amber rating until more evidence is available. |
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Fetal anomalies v1.795 | MMP15 | Ivone Leong Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.792 | SMARCE1 | Arina Puzriakova Classified gene: SMARCE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.792 | SMARCE1 | Arina Puzriakova Gene: smarce1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.791 | SMARCE1 | Arina Puzriakova Tag Q4_21_rating tag was added to gene: SMARCE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.791 | SMARCE1 | Arina Puzriakova Publications for gene: SMARCE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.790 | SMARCE1 | Arina Puzriakova Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, OMIM:616938 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.787 | SLC6A9 | Arina Puzriakova Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine, OMIM:617301; Arthrogryposis, MONDO:0008779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.785 | PRRX1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' for now as 3 unrelated cases of otocephaly with private heterozygous LoF variants have been reported in literature to date, but only one patient with a homozygous alteration. May be reviewed if evidence of further cases emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.781 | PRIM1 | Arina Puzriakova Phenotypes for gene: PRIM1 were changed from Primordial dwarfism to Microcephalic primordial dwarfism, MONDO:0017950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.777 | LMNB2 | Arina Puzriakova Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant to Microcephaly 27, primary, autosomal dominant, OMIM:619180 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.773 | LMNB1 | Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant to Microcephaly 26, primary, autosomal dominant, OMIM:619179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.768 | FLNC | Arina Puzriakova Phenotypes for gene: FLNC were changed from Arthrogryposis to Arthrogryposis, MONDO:0008779 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.763 | ENPP1 | Arina Puzriakova Phenotypes for gene: ENPP1 were changed from HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 to Arterial calcification, generalized, of infancy, 1, OMIM:208000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.754 | CRADD | Arina Puzriakova Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | MMP15 |
Dmitrijs Rots gene: MMP15 was added gene: MMP15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to PMID: 33875846 Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease Review for gene: MMP15 was set to AMBER Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel. Sources: Literature |
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Fetal anomalies v1.749 | POLR1B |
Rhiannon Mellis gene: POLR1B was added gene: POLR1B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to PMID: 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4 Review for gene: POLR1B was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias Details of review: PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B. Sources: Expert Review, Literature |
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Fetal anomalies v1.749 | CSF1R |
Rhiannon Mellis gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to PMID: 30982608 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) Review for gene: CSF1R was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608 NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form Sources: Expert Review |
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Fetal anomalies v1.749 | LMNB2 |
Rhiannon Mellis gene: LMNB2 was added gene: LMNB2 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB2 were set to PMID: 33033404 Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Expert Review, Literature |
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Fetal anomalies v1.749 | LMNB1 |
Rhiannon Mellis gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to PMID: 33033404 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant Review for gene: LMNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | PRIM1 |
Rhiannon Mellis gene: PRIM1 was added gene: PRIM1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to PMID: 33060134 Phenotypes for gene: PRIM1 were set to Primordial dwarfism Review for gene: PRIM1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | MN1 |
Rhiannon Mellis commented on gene: MN1: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Agreed that the phenotype is fetally relevant (structural brain abnormalities e.g. polymicrogyria, cerebellar hypoplasia, craniofacial features etc.) support adding to the Fetal anomalies panel as a Green gene. |
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Fetal anomalies v1.749 | EXTL3 |
Rhiannon Mellis gene: EXTL3 was added gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities Review for gene: EXTL3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert Review |
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Fetal anomalies v1.749 | GREB1L |
Rhiannon Mellis commented on gene: GREB1L: This gene and phenotype were re-reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene as per previous reviews (unclear on reason for change from Green to Amber previously) |
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Fetal anomalies v1.749 | FLNC |
Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review; to: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies; Neuromuscular disorders; flagged for upgrade to Green on Arthrogryposis panel Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | FLNC |
Rhiannon Mellis gene: FLNC was added gene: FLNC was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to PMID: 33060286; 29858533 Phenotypes for gene: FLNC were set to Arthrogryposis Review for gene: FLNC was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | SMARCE1 | Rhiannon Mellis reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32732226, 32436246, 32410215; Phenotypes: Coffin Siris syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | SMARCC1 | Rhiannon Mellis reviewed gene: SMARCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226; Phenotypes: Congenital hydrocephalus, Aqueduct stenosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | SLC6A9 | Rhiannon Mellis reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31875334, 27773429, 32712301, 33269555; Phenotypes: Glycine encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | CRADD | Rhiannon Mellis reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29947050, 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | CDK8 |
Rhiannon Mellis gene: CDK8 was added gene: CDK8 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK8 were set to PMID: 31742715; 30905399 Phenotypes for gene: CDK8 were set to Syndromic developmental disorder with hypotonia and behavioural abnormalities Review for gene: CDK8 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Intellectual disability; Severe paediatric disorders Details of review: Aggarwal et al 2020 report a heterozygous nonsense variant in a fetus with ventriculomegaly and Ebstein anomaly resulting in IUFD. Post-mortem found additionally congenital diaphragmatic hernia, common atrium and facial dysmorphism. This nonsense variant is at the same position as a hotspot for missense variants reported in a paediatric cohort (Calpena et al 2019, PMID: 30905399) with overlapping but milder phenotype: half of the 12 children in that cohort had cardiac defects, most had dysmorphic features - hence Aggarwal et al propose that this is a more severe (prenatal) presentation of the same multiple malformation syndrome, caused here by a nonsense rather than missense mutation. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | ENPP1 | Rhiannon Mellis reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31742715, 19521093, 19813208; Phenotypes: Generalised arterial calcification of infancy (GACI); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.749 | CYP19A1 | Arina Puzriakova Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546; Aromatase excess syndrome 139300 to Aromatase deficiency, OMIM:613546; Aromatase excess syndrome, OMIM:139300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.746 | CYP11A1 | Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.745 | CRYBB3 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. CRYBB3 is associated with congenital cataract (MIM# 609741) which can have monoallelic or biallelic inheritance. Both MOIs for this phenotype are listed in OMIM and G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.744 | CRYBB3 | Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, OMIM:609741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.742 | COL6A3 | Arina Puzriakova Phenotypes for gene: COL6A3 were changed from ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; DYSTONIA 27 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.741 | COL6A3 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A3 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.740 | COL6A1 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A1 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.739 | COL6A1 | Arina Puzriakova Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.736 | LRIT3 | Zornitza Stark reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.731 | ZC4H2 | Ivone Leong Phenotypes for gene: ZC4H2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.730 | AP1S2 | Arina Puzriakova Phenotypes for gene: AP1S2 were changed from MENTAL RETARDATION X-LINKED TYPE 59 to Pettigrew syndrome, OMIM:304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.729 | AP1S2 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline. |
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Fetal anomalies v1.728 | SCUBE3 | Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.727 | SCUBE3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Prenatal growth retardation was evident in 8/11 relevant cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.727 | BMPR1B |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.; to: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel. ----- Confirmed with clinical team that this is the appropriate MOI for this panel. |
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Fetal anomalies v1.727 | SCUBE3 |
Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown |
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Fetal anomalies v1.725 | BHLHA9 |
Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic single nucleotide variants in this gene are associated with Syndactyly, mesoaxial synostotic, with phalangeal reduction (OMIM:609432). Monoallelic duplications of the whole gene are associated with split hand/foot malformations, but it is not clear if they are inherited in an Mendelian manner (see review on the Limb disorders panel https://panelapp.genomicsengland.co.uk/panels/384/gene/BHLHA9/) Therefore the recommendation is that the mode of inheritance should be biallelic only for this gene, with region being eventually represented by a separate entity. |
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Fetal anomalies v1.722 | TMEM260 | Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.720 | WLS |
Zornitza Stark gene: WLS was added gene: WLS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386 Phenotypes for gene: WLS were set to structural congenital anomalies Review for gene: WLS was set to GREEN Added comment: - Homozygous variants in 10 affected persons from 5 unrelated families. - Affected individuals had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. - The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Sources: Literature |
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Fetal anomalies v1.720 | WNT9B |
Zornitza Stark gene: WNT9B was added gene: WNT9B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT9B were set to 34145744 Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia Review for gene: WNT9B was set to AMBER Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities. Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance. I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel. Sources: Literature |
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Fetal anomalies v1.720 | TMEM260 | Alistair Pagnamenta reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28318500, 34612517; Phenotypes: ventricular septal defects, truncus arteriosus, elevated creatinine levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.720 | MED12 |
Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases, therefore waiting for GMS review before considering changing the mode of inheritance. |
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Fetal anomalies v1.720 | MED12 |
Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation). In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. |
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Fetal anomalies v1.720 | MED12 |
Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation). In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. |
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Fetal anomalies v1.718 | MED12 |
Eleanor Williams Added comment: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases |
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Fetal anomalies v1.717 | GREB1L | Rhiannon Mellis edited their review of gene: GREB1L: Added comment: A further prenatal case reported in PMID 31974414 (Vora et al 2020) - c.4881_4882del; [p.H1627fs] inherited from parent, 2 affected pregnancies with bilateral renal agenesis plus a living child with single kidney.; Changed rating: GREEN; Changed publications to: PMID: 31424080, 32378186, 31974414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.717 | GNB1 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.716 | GRIN1 | Sarah Leigh edited their review of gene: GRIN1: Added comment: The MOI monoallelic is listed for this panel, as the phenotype was initially listed as epileptic encephalopathy and only one biallelic case has been reported with this phenotype. However, other fetal phenotypes are associated with both monoallelic and biallelic GRIN1 variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 and Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.714 | GNB1 | Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.713 | CNTN1 | Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.; to: Comment on list classification: Rating Amber as two families with homozygous variants have now been reported in literature. Both display fetally-relevant phenotypes such as fetal akinesia, polyhydramnios, and contractures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.713 | CNTN1 | Arina Puzriakova Entity copied from Arthrogryposis v3.122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.712 | FOXE3 | Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.710 | FOXE3 | Eleanor Williams Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.705 | PRKD1 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was reassessed following a recent review by Zornitza Stark highlighting the potential involvement of biallelic variants. Currently the evidence for biallelic inheritance only suffices for an Amber rating and so I have kept the MOI as monoallelic but with a 'watchlist_MOI' tag to monitor for additional evidence. The Genomics England pipeline would still pick up biallelic cases under the current MOI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.701 | KIF1A | Arina Puzriakova Phenotypes for gene: KIF1A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.700 | TBX4 | Ivone Leong Phenotypes for gene: TBX4 were changed from SMALL PATELLA SYNDROME to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.699 | TWIST2 | Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.696 | BMPR1B | Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.692 | MYOD1 | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Fetal anomalies). Therefore, this gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.689 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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Fetal anomalies v1.687 | DMPK |
Arina Puzriakova changed review comment from: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected. |
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Fetal anomalies v1.686 | WBP11 | Ivone Leong Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.685 | TMEM94 | Ivone Leong Phenotypes for gene: TMEM94 were changed from Intellectual developmental disorder with cardiac defects and dysmorphic facies to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.683 | ATAD3A | Arina Puzriakova Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183 to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.682 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel review. At least 7 unrelated families have now been reported with biallelic SNVs in ATAD3A, including 5 families with Harel-Yoon syndrome, MIM# 617183 (PMID: 27640307; 32607449; 33845882) and 2 families with neonatal lethal pontocerebellar hypoplasia, MIM# 618810 (PMID: 29053797; 31727539). Both of these phenotypes are pertinent to this panel. |
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Fetal anomalies v1.679 | CELSR1 | Arina Puzriakova Phenotypes for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.678 | POLR3B | Arina Puzriakova Phenotypes for gene: POLR3B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.674 | PRKD1 | Zornitza Stark reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298, 25713110, 33919081; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364, Congenital heart disease, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.674 | SMARCC1 | Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.673 | FOXG1 | Sarah Leigh Phenotypes for gene: FOXG1 were changed from CONGENITAL VARIANT OF RETT SYNDROME to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.672 | ZNF3 |
Arina Puzriakova gene: ZNF3 was added gene: ZNF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. Sources: Literature |
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Fetal anomalies v1.671 | WDR91 |
Arina Puzriakova gene: WDR91 was added gene: WDR91 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 32732226 Phenotypes for gene: WDR91 were set to Hygroma; Hydrocephaly Review for gene: WDR91 was set to RED Added comment: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents Sources: Literature |
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Fetal anomalies v1.670 | SPTBN5 |
Arina Puzriakova gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN5 were set to 32732226 Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios Review for gene: SPTBN5 was set to RED Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature |
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Fetal anomalies v1.669 | SCN7A |
Arina Puzriakova gene: SCN7A was added gene: SCN7A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN7A were set to 32732226 Phenotypes for gene: SCN7A were set to Holoprosencephaly Review for gene: SCN7A was set to RED Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation. Sources: Literature |
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Fetal anomalies v1.668 | MYBPC2 |
Arina Puzriakova gene: MYBPC2 was added gene: MYBPC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC2 were set to 32732226 Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium Review for gene: MYBPC2 was set to RED Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs. Sources: Literature |
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Fetal anomalies v1.667 | DNAH2 |
Arina Puzriakova changed review comment from: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing. Sources: Literature; to: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature |
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Fetal anomalies v1.667 | DNAH2 |
Arina Puzriakova gene: DNAH2 was added gene: DNAH2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy Review for gene: DNAH2 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing. Sources: Literature |
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Fetal anomalies v1.666 | SMARCC1 | Arina Puzriakova Penetrance for gene SMARCC1 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.665 | SMARCC1 |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update. At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.; to: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update - sufficient cases (>3) of congenital hydrocephaly which may conceivably be detected prenatally. At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities. |
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Fetal anomalies v1.665 | SMARCC1 |
Arina Puzriakova gene: SMARCC1 was added gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: SMARCC1. Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities |
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Fetal anomalies v1.664 | DPH1 | Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases of fetally-relevant phenotypes from unrelated families to warrant a Green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.663 | DPH1 |
Arina Puzriakova gene: DPH1 was added gene: DPH1 was added to Fetal anomalies. Sources: Literature Q2_21_rating tags were added to gene: DPH1. Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 29362492; 30877278; 32732226 Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Review for gene: DPH1 was set to GREEN Added comment: Biallelic variants in this gene cause a neurodevelopmental disorder characterised by ID/DD, short stature, dysmorphic features, craniofacial and ectodermal anomalies. Several reports note antenatal anomalies and multiple congenital abnormalities that may conceivably be detected prenatally. Fetal ultrasound phenotypes reported in literature include IUGR, polyhydramnios, craniostenosis, cardiac abnormalities, brain anomalies, and polydactyly (PMID: 25558065; 29362492; 30877278; 32732226) Sources: Literature |
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Fetal anomalies v1.658 | FKBP8 |
Arina Puzriakova Added comment: Comment on list classification: Additional publication identified by Rhiannon Mellis (GOSH) describing a fetus with severe thoracolumbar scoliosis and caudal spinal cord agenesis and a homozygous (c.C572T:p.P191L) variant in FKBP8 (PMID: 29261186). Note the phenotype and MOI are distinct from other reports (PMID: 32969478). FKBP8 remains a candidate gene and so maintaining Amber rating in anticipation of additional cases to corroborate pathogenicity. |
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Fetal anomalies v1.653 | PLD1 | Arina Puzriakova Phenotypes for gene: PLD1 were changed from HP:0001654; HP:0001627; HP:0001638 to Cardiac valvular defect, developmental, OMIM:212093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.652 | CLTC | Arina Puzriakova reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: 33743358; Phenotypes: Mental retardation, autosomal dominant 56, OMIM:617854; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.652 | CLTC | Arina Puzriakova Phenotypes for gene: CLTC were changed from Epilepsy and intellectual disability to Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia; Fetal growth restriction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.650 | TSEN54 | Arina Puzriakova Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.648 | RFWD3 |
Rhiannon Mellis gene: RFWD3 was added gene: RFWD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to PMID: 2869192 Phenotypes for gene: RFWD3 were set to Fanconi anaemia Review for gene: RFWD3 was set to RED Added comment: Fetally relevant phenotype but only one case reported in literature so far so await further cases. (In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I) Sources: Literature |
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Fetal anomalies v1.645 | FOXP4 |
Ivone Leong gene: FOXP4 was added gene: FOXP4 was added to Fetal anomalies. Sources: Literature Q2_21_rating, Q2_21_phenotype tags were added to gene: FOXP4. Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities Review for gene: FOXP4 was set to AMBER Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM. This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews: "This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature Zornitza Stark (Australian Genomics), 4 Nov 2020" "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 4 Dec 2020" After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group. Sources: Literature |
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Fetal anomalies v1.644 | CHD4 | Sarah Leigh Added comment: Comment on phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.644 | CHD4 | Sarah Leigh Phenotypes for gene: CHD4 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.643 | FBN2 | Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.640 | FAR1 | Arina Puzriakova Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.639 | LARS2 | Arina Puzriakova Phenotypes for gene: LARS2 were changed from PERRAULT SYNDROME to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.638 | LARS2 | Arina Puzriakova Publications for gene: LARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.637 | LARS2 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.637 | LARS2 | Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.637 | PLD1 |
Suzanne Drury gene: PLD1 was added gene: PLD1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 33645542 Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638 Review for gene: PLD1 was set to GREEN Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects. Sources: Literature |
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Fetal anomalies v1.637 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.636 | KIDINS220 | Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.635 | KIDINS220 | Eleanor Williams Added comment: Comment on mode of inheritance: After consultation with the Genomics England clinical team changing the MOI rating to BOTH monoallelic and biallelic but leaving the amber rating with a recommendation for this gene to be discussed at the next GMS review with regards to the 2 biallelic cases and the partially supportive mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.633 | KIDINS220 | Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.630 | KIDINS220 |
Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. |
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Fetal anomalies v1.630 | KIDINS220 |
Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations. |
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Fetal anomalies v1.628 | ARMC4 | Catherine Snow Tag new-gene-name tag was added to gene: ARMC4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.628 | ARMC4 | Catherine Snow commented on gene: ARMC4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.627 | WBP11 |
Eleanor Williams gene: WBP11 was added gene: WBP11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WBP11 were set to 33276377 Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Review for gene: WBP11 was set to GREEN Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. Sources: Literature |
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Fetal anomalies v1.626 | OTUD5 | Arina Puzriakova Added comment: Comment on list classification: At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene (PMIDs: 33131077 and 33523931). Phenotype may conceivably be detected prenatally and therefore this gene should be promoted to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.625 | OTUD5 |
Arina Puzriakova gene: OTUD5 was added gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Q2_21_rating tags were added to gene: OTUD5. Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33131077; 33523931 Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Review for gene: OTUD5 was set to GREEN Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype. - PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. - PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Sources: Expert Review |
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Fetal anomalies v1.624 | SYNE1 | Arina Puzriakova Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.622 | SYNE1 | Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update - at least 3 unrelated cases with arthrogryposis multiplex congenita (AMC) which may be detected prenatally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.621 | SYNE1 | Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.620 | MYL9 |
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as there are now two unrelated families presenting features of MMIHS, associated with different biallelic variants in the MYL9 gene (PMIDs: 29453416; 33031641). Additional cases/functional evidence required prior to inclusion as diagnostic-grade. |
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Fetal anomalies v1.617 | SLC20A1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to promote to Green. At least three unrelated families with a BEEC phenotype (fetally-relevant) and different heterozygous variants in this gene (PMID: 32850778). In vitro assays and zebrafish model support pathogenicity. |
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Fetal anomalies v1.612 | SUFU |
Arina Puzriakova changed review comment from: The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. This gene will be flagged for review by the GMS team with regards to whether these features may conceivably be detected prenatally (added 'for-review' tag). Note that these individuals harboured heterozygous truncating variants, and monoallelic variants in this gene have also previously been associated with Basal cell nevus syndrome and Medulloblastoma.; to: SUFU was reassessed in line with the recent expert review by Rhiannon Mellis (GOSH). The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. However, it is unclear whether these features may conceivably be detected prenatally and therefore this gene will be flagged for review by the GMS team with regards to phenotypic fit for this panel (added 'for-review' tag). Note that unlike the 2 Joubert syndrome families with biallelic variants reported by De Mori et al. (2017, PMID: 28965847), these individuals harboured heterozygous truncating variants in the SUFU gene. Monoallelic variants have previously been associated with basal cell nevus syndrome and medulloblastoma, and there was no evidence of tumours in any of the families described by Schroder et al. |
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Fetal anomalies v1.609 | SMPD4 | Arina Puzriakova Phenotypes for gene: SMPD4 were changed from Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.604 | SIX6 | Arina Puzriakova Phenotypes for gene: SIX6 were changed from Optic disc anomalies with retinal and/or macular dystrophy to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.595 | SMS | Arina Puzriakova Phenotypes for gene: SMS were changed from SNYDER-ROBINSON SYNDROME to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.586 | SGCG | Arina Puzriakova Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, autosomal recessive 5 to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.577 | TOE1 | Arina Puzriakova Phenotypes for gene: TOE1 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.573 | TRAIP | Catherine Snow Phenotypes for gene: TRAIP were changed from PRIMORDIAL DWARFISM to Seckel syndrome 9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.569 | STIL | Arina Puzriakova Phenotypes for gene: STIL were changed from MICROCEPHALY PRIMARY TYPE 7 to Microcephaly 7, primary, autosomal recessive, OMIM:612703; Microcephaly 7, primary, autosomal recessive, MONDO:0012989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.566 | SPARC | Arina Puzriakova Phenotypes for gene: SPARC were changed from OSTEOGENESIS IMPERFECTA, TYPE XVII to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.561 | SPARC | Arina Puzriakova Classified gene: SPARC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.561 | SPARC | Arina Puzriakova Gene: sparc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.560 | SPARC | Arina Puzriakova Tag for-review tag was added to gene: SPARC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.558 | TBC1D32 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). There are sufficient unrelated cases with a fetally-relevant phenotype and biallelic variants in TBC1D32 to promoted this gene to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.524 | RBM10 | Arina Puzriakova Phenotypes for gene: RBM10 were changed from TARP SYNDROME to TARP syndrome, OMIM:311900; Tarp syndrome, MONDO:0010711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.518 | PRUNE1 | Arina Puzriakova Phenotypes for gene: PRUNE1 were changed from PEHO Like condition to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.515 | RPL10 | Arina Puzriakova Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35, OMIM:300998; Intellectual disability, X-linked, syndromic, 35, MONDO:0030908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.511 | PYGM | Arina Puzriakova Phenotypes for gene: PYGM were changed from McArdle disease to McArdle disease, OMIM:232600; Glycogen storage disease V, MONDO:0009293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.510 | PRKAG2 | Arina Puzriakova Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital to Cardiomyopathy, hypertrophic 6, OMIM:600858; Hypertrophic cardiomyopathy 6, MONDO:0010946; Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.491 | PITX1 | Arina Puzriakova Phenotypes for gene: PITX1 were changed from CONGENITAL CLUBFOOT; HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.484 | P4HB | Arina Puzriakova Phenotypes for gene: P4HB were changed from COLE-CARPENTER SYNDROME to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.483 | OSGEP | Arina Puzriakova Phenotypes for gene: OSGEP were changed from Nephrotic syndrome with primary microcephaly to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.477 | NEDD4L | Arina Puzriakova Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly to Periventricular nodular heterotopia 7, OMIM:617201; Periventricular nodular heterotopia 7, MONDO:0014966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.472 | PIH1D3 | Arina Puzriakova Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.463 | PBX1 | Arina Puzriakova Phenotypes for gene: PBX1 were changed from Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.453 | NADSYN1 | Arina Puzriakova Phenotypes for gene: NADSYN1 were changed from Vertebral, cardiac, renal, and limb defects syndrome 3 to Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845; Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.446 | MAP3K7 | Arina Puzriakova Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome; FRONTOMETAPHYSEAL DYSPLASIA to Cardiospondylocarpofacial syndrome, OMIM:157800; Cardiospondylocarpofacial syndrome, MONDO:0008005; Frontometaphyseal dysplasia 2, OMIM:617137; Frontometaphyseal dysplasia 2, MONDO:0014935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.442 | LAMB1 | Arina Puzriakova Phenotypes for gene: LAMB1 were changed from COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES to Lissencephaly 5, OMIM:615191; Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.440 | KLHL7 | Arina Puzriakova Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to PERCHING syndrome, OMIM:617055; PERCHING syndrome, MONDO:0014890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.435 | HESX1 | Arina Puzriakova Phenotypes for gene: HESX1 were changed from HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY; SEPTOOPTIC DYSPLASIA to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.425 | GZF1 | Arina Puzriakova Phenotypes for gene: GZF1 were changed from LARSEN SYNDROME to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.422 | GMNN | Arina Puzriakova Phenotypes for gene: GMNN were changed from Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.418 | GSC | Arina Puzriakova Phenotypes for gene: GSC were changed from Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471; Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.414 | GFPT1 | Arina Puzriakova Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.413 | GATA3 | Arina Puzriakova Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, sensorineural deafness, and renal dysplasia to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.389 | FIG4 | Arina Puzriakova Phenotypes for gene: FIG4 were changed from CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.380 | DPM3 | Arina Puzriakova Phenotypes for gene: DPM3 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.376 | DNAAF5 | Arina Puzriakova Phenotypes for gene: DNAAF5 were changed from CILIARY DYSKINESIA, PRIMARY, 18 to Ciliary dyskinesia, primary, 18, OMIM:614874; Primary ciliary dyskinesia 18, MONDO:0013940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.351 | CLP1 | Arina Puzriakova Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.350 | CIT | Arina Puzriakova Phenotypes for gene: CIT were changed from PRIMARY MICROCEPHALY to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.346 | CHMP1A | Arina Puzriakova Phenotypes for gene: CHMP1A were changed from PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY to Pontocerebellar hypoplasia, type 8, OMIM:614961; Pontocerebellar hypoplasia type 8, MONDO:0013990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.340 | CEP135 | Arina Puzriakova Phenotypes for gene: CEP135 were changed from PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.338 | CDK5RAP2 | Arina Puzriakova Phenotypes for gene: CDK5RAP2 were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 3, primary, autosomal recessive, OMIM:604804; Microcephaly 3, primary, autosomal recessive, MONDO:0011488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.332 | CCDC151 | Arina Puzriakova Phenotypes for gene: CCDC151 were changed from PRIMARY CILLARY DYSKINEASIA to Ciliary dyskinesia, primary, 30, OMIM:616037; Primary ciliary dyskinesia 30, MONDO:0014465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.328 | C21orf59 | Arina Puzriakova Phenotypes for gene: C21orf59 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 26, OMIM:615500; Primary ciliary dyskinesia 26, MONDO:0014211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.326 | B3GALNT2 | Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.322 | ARFGEF2 | Arina Puzriakova Phenotypes for gene: ARFGEF2 were changed from PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY to Periventricular heterotopia with microcephaly, OMIM:608097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.321 | ARFGEF2 | Arina Puzriakova Classified gene: ARFGEF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.321 | ARFGEF2 | Arina Puzriakova Gene: arfgef2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.320 | ARFGEF2 | Arina Puzriakova Tag for-review tag was added to gene: ARFGEF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.300 | ARHGAP29 | Arina Puzriakova Classified gene: ARHGAP29 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.300 | ARHGAP29 | Arina Puzriakova Gene: arhgap29 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.299 | ARHGAP29 | Arina Puzriakova Tag for-review tag was added to gene: ARHGAP29. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.293 | ABL1 | Arina Puzriakova Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations, OMIM:617602; Congenital heart defects and skeletal malformations syndrome, MONDO:0060532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.277 | MYMK | Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.272 | MYH7 | Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.264 | MSTO1 | Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.261 | MSMO1 | Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.253 | MEIS2 | Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.249 | MAP3K20 | Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.243 | LRRC56 | Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39 to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.240 | KNL1 | Arina Puzriakova Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | MYPN |
Rhiannon Mellis gene: MYPN was added gene: MYPN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336 Review for gene: MYPN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | ALG2 | Rhiannon Mellis reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, ?Congenital disorder of glycosylation, type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | ALOX12B |
Rhiannon Mellis gene: ALOX12B was added gene: ALOX12B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 Review for gene: ALOX12B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | ALOXE3 |
Rhiannon Mellis gene: ALOXE3 was added gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 Review for gene: ALOXE3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | AMACR |
Rhiannon Mellis gene: AMACR was added gene: AMACR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307 Review for gene: AMACR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list |
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Fetal anomalies v1.229 | AMMECR1 |
Rhiannon Mellis gene: AMMECR1 was added gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 Review for gene: AMMECR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list |
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Fetal anomalies v1.229 | ANKS6 |
Rhiannon Mellis gene: ANKS6 was added gene: ANKS6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 Review for gene: ANKS6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel Sources: Expert list |
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Fetal anomalies v1.229 | ARFGEF2 | Rhiannon Mellis reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly, 608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | ARHGAP29 |
Rhiannon Mellis gene: ARHGAP29 was added gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate Review for gene: ARHGAP29 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.229 | B3GALNT2 | Rhiannon Mellis reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | B4GAT1 |
Rhiannon Mellis gene: B4GAT1 was added gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Review for gene: B4GAT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570 Sources: Expert list |
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Fetal anomalies v1.229 | BNC2 |
Rhiannon Mellis gene: BNC2 was added gene: BNC2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612 Review for gene: BNC2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.229 | C21orf59 | Rhiannon Mellis reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 26, 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CACNA1G |
Rhiannon Mellis gene: CACNA1G was added gene: CACNA1G was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 Review for gene: CACNA1G was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia Sources: Expert list |
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Fetal anomalies v1.229 | CANT1 |
Rhiannon Mellis gene: CANT1 was added gene: CANT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 Review for gene: CANT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.229 | CASR |
Rhiannon Mellis gene: CASR was added gene: CASR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 Review for gene: CASR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.229 | CCDC151 | Rhiannon Mellis reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 30, 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CDK5RAP2 | Rhiannon Mellis reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CELSR1 |
Rhiannon Mellis gene: CELSR1 was added gene: CELSR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CELSR1 were set to hereditary lymphedema Review for gene: CELSR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Expert list |
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Fetal anomalies v1.229 | CENPF |
Rhiannon Mellis gene: CENPF was added gene: CENPF was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to PMID: 26820108; 25564561 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605 Review for gene: CENPF was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561 Sources: Expert list |
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Fetal anomalies v1.229 | CEP135 | Rhiannon Mellis reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CEP55 | Rhiannon Mellis reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CERS3 |
Rhiannon Mellis gene: CERS3 was added gene: CERS3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 Review for gene: CERS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | CHMP1A | Rhiannon Mellis reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CHRNA3 |
Rhiannon Mellis gene: CHRNA3 was added gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 Review for gene: CHRNA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.229 | CHRNB1 |
Rhiannon Mellis gene: CHRNB1 was added gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Review for gene: CHRNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | CHRNE |
Rhiannon Mellis gene: CHRNE was added gene: CHRNE was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Review for gene: CHRNE was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases. Sources: Expert list |
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Fetal anomalies v1.229 | CIT | Rhiannon Mellis reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 17, primary, autosomal recessive, 617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CLP1 | Rhiannon Mellis reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | CNBP |
Rhiannon Mellis gene: CNBP was added gene: CNBP was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 Review for gene: CNBP was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | COG6 |
Rhiannon Mellis gene: COG6 was added gene: COG6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328 Review for gene: COG6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.228 | COL12A1 |
Rhiannon Mellis gene: COL12A1 was added gene: COL12A1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470 Review for gene: COL12A1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis Sources: Expert list |
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Fetal anomalies v1.228 | COLQ |
Rhiannon Mellis gene: COLQ was added gene: COLQ was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLQ were set to PMID: 9689136; 11865139 Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 Review for gene: COLQ was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally. Sources: Expert list |
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Fetal anomalies v1.228 | CREB3L1 |
Rhiannon Mellis gene: CREB3L1 was added gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229 Review for gene: CREB3L1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.228 | CRIPT |
Rhiannon Mellis gene: CRIPT was added gene: CRIPT was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789 Review for gene: CRIPT was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list |
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Fetal anomalies v1.228 | CTU2 |
Rhiannon Mellis gene: CTU2 was added gene: CTU2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Review for gene: CTU2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.228 | CYP26B1 |
Rhiannon Mellis gene: CYP26B1 was added gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Expert list |
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Fetal anomalies v1.228 | CYP4F22 |
Rhiannon Mellis gene: CYP4F22 was added gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 Review for gene: CYP4F22 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.226 | DIAPH1 |
Rhiannon Mellis gene: DIAPH1 was added gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632 Review for gene: DIAPH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.226 | DISP1 |
Rhiannon Mellis gene: DISP1 was added gene: DISP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DISP1 were set to 27363716 Phenotypes for gene: DISP1 were set to Holoprosencephaly Review for gene: DISP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Holoprosencephaly Sources: Expert list |
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Fetal anomalies v1.225 | DLX5 |
Rhiannon Mellis gene: DLX5 was added gene: DLX5 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 Review for gene: DLX5 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.225 | DNAAF2 |
Rhiannon Mellis gene: DNAAF2 was added gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518 Review for gene: DNAAF2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.225 | DNAAF5 | Rhiannon Mellis reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 18,614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.225 | DNAI2 |
Rhiannon Mellis gene: DNAI2 was added gene: DNAI2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 Review for gene: DNAI2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.225 | DNAJB11 |
Rhiannon Mellis gene: DNAJB11 was added gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061 Review for gene: DNAJB11 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list |
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Fetal anomalies v1.225 | DNAL1 |
Rhiannon Mellis gene: DNAL1 was added gene: DNAL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017 Review for gene: DNAL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Additional comment: causes situs inversus Sources: Expert list |
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Fetal anomalies v1.225 | DNM1L |
Rhiannon Mellis gene: DNM1L was added gene: DNM1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 Review for gene: DNM1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list |
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Fetal anomalies v1.219 | GDF2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121). Rating Red as additional cases/functional evidence required to corroborate this gene-disease association. |
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Fetal anomalies v1.215 | DNM2 |
Rhiannon Mellis gene: DNM2 was added gene: DNM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DNM2 were set to PMID: 30208955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368 Review for gene: DNM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017) NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955 Sources: Expert list |
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Fetal anomalies v1.215 | DONSON |
Rhiannon Mellis gene: DONSON was added gene: DONSON was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 Review for gene: DONSON was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.215 | DPM2 |
Rhiannon Mellis gene: DPM2 was added gene: DPM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042 Review for gene: DPM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.215 | DPM3 | Rhiannon Mellis reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | DYNC2LI1 |
Rhiannon Mellis gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 Review for gene: DYNC2LI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.215 | DZIP1L |
Rhiannon Mellis gene: DZIP1L was added gene: DZIP1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610 Review for gene: DZIP1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel) Sources: Expert list |
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Fetal anomalies v1.215 | EML1 |
Rhiannon Mellis gene: EML1 was added gene: EML1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EML1 were set to Band heterotopia, 600348 Review for gene: EML1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Sources: Expert list |
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Fetal anomalies v1.215 | EMX2 |
Rhiannon Mellis gene: EMX2 was added gene: EMX2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to Schizencephaly, 269160 Review for gene: EMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.215 | FAM46A |
Rhiannon Mellis gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII Review for gene: FAM46A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | FIG4 | Rhiannon Mellis reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yunis-Varon syndrome, Charcot-Marie-Tooth disease, type 4J, ?Polymicrogyria, bilateral temporooccipital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | FKBP10 |
Rhiannon Mellis gene: FKBP10 was added gene: FKBP10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI Review for gene: FKBP10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | FUT8 |
Rhiannon Mellis gene: FUT8 was added gene: FUT8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1 Review for gene: FUT8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.215 | FZD2 |
Rhiannon Mellis gene: FZD2 was added gene: FZD2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD2 were set to Omodysplasia 2 Review for gene: FZD2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | GALNT2 |
Rhiannon Mellis gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt Review for gene: GALNT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.215 | GANAB |
Rhiannon Mellis gene: GANAB was added gene: GANAB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 Review for gene: GANAB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list |
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Fetal anomalies v1.215 | GATA3 |
Rhiannon Mellis gene: GATA3 was added gene: GATA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia Review for gene: GATA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.215 | GFPT1 |
Rhiannon Mellis gene: GFPT1 was added gene: GFPT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.215 | GFRA1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Two unrelated families with non-syndromic bilateral renal agenesis, detected during the prenatal period, and distinct homozygous LoF variants in GFRA1. Animal models support a role in renal morphogenesis (PMID:33020172). Rating Amber awaiting further cases/clinical evidence prior to inclusion as diagnositc-grade. |
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Fetal anomalies v1.214 | GLI1 |
Rhiannon Mellis gene: GLI1 was added gene: GLI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400 Review for gene: GLI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders Sources: Expert list |
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Fetal anomalies v1.214 | GREB1L |
Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request. PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis. |
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Fetal anomalies v1.214 | GSC |
Rhiannon Mellis gene: GSC was added gene: GSC was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Review for gene: GSC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.214 | HADHB |
Rhiannon Mellis gene: HADHB was added gene: HADHB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency Review for gene: HADHB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally Sources: Expert list |
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Fetal anomalies v1.214 | HMGA2 |
Rhiannon Mellis gene: HMGA2 was added gene: HMGA2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5 Review for gene: HMGA2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list |
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Fetal anomalies v1.214 | ICK |
Rhiannon Mellis gene: ICK was added gene: ICK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia Review for gene: ICK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | IDH1 |
Rhiannon Mellis gene: IDH1 was added gene: IDH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096 Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 Review for gene: IDH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria). Sources: Expert list |
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Fetal anomalies v1.214 | IFT52 |
Rhiannon Mellis gene: IFT52 was added gene: IFT52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly Review for gene: IFT52 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | IFT81 |
Rhiannon Mellis gene: IFT81 was added gene: IFT81 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly Review for gene: IFT81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | KATNB1 |
Rhiannon Mellis gene: KATNB1 was added gene: KATNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly Review for gene: KATNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.214 | KIAA0753 |
Rhiannon Mellis gene: KIAA0753 was added gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV Review for gene: KIAA0753 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.214 | KNL1 |
Rhiannon Mellis gene: KNL1 was added gene: KNL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive Review for gene: KNL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.214 | LRRC56 |
Rhiannon Mellis gene: LRRC56 was added gene: LRRC56 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 Review for gene: LRRC56 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism Sources: Expert list |
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Fetal anomalies v1.214 | MACF1 |
Rhiannon Mellis gene: MACF1 was added gene: MACF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation Review for gene: MACF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.214 | MAP3K20 |
Rhiannon Mellis gene: MAP3K20 was added gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion Review for gene: MAP3K20 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MAP3K7 | Rhiannon Mellis reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.214 | MEIS2 |
Rhiannon Mellis gene: MEIS2 was added gene: MEIS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation Review for gene: MEIS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.214 | MESD |
Rhiannon Mellis gene: MESD was added gene: MESD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX Review for gene: MESD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta Sources: Expert list |
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Fetal anomalies v1.214 | MRAS |
Rhiannon Mellis gene: MRAS was added gene: MRAS was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MRAS were set to Noonan syndrome 11 Review for gene: MRAS was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list |
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Fetal anomalies v1.214 | MSMO1 |
Rhiannon Mellis gene: MSMO1 was added gene: MSMO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis Review for gene: MSMO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.214 | MSTO1 |
Rhiannon Mellis gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia Review for gene: MSTO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYH2 |
Rhiannon Mellis gene: MYH2 was added gene: MYH2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia Review for gene: MYH2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally. Sources: Expert list |
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Fetal anomalies v1.214 | MYH7 |
Rhiannon Mellis gene: MYH7 was added gene: MYH7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809 Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 Review for gene: MYH7 was set to GREEN Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype. However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809 Sources: Literature |
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Fetal anomalies v1.214 | MYL1 |
Rhiannon Mellis gene: MYL1 was added gene: MYL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to PMID: 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy Review for gene: MYL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant. Sources: Expert list |
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Fetal anomalies v1.214 | MYMK |
Rhiannon Mellis gene: MYMK was added gene: MYMK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome Review for gene: MYMK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements. Sources: Expert list |
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Fetal anomalies v1.214 | MYO18B |
Rhiannon Mellis gene: MYO18B was added gene: MYO18B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Review for gene: MYO18B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYO9A |
Rhiannon Mellis gene: MYO9A was added gene: MYO9A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic Review for gene: MYO9A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYOCD |
Rhiannon Mellis gene: MYOCD was added gene: MYOCD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOCD were set to Megabladder, congenital Review for gene: MYOCD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.214 | NADSYN1 |
Rhiannon Mellis gene: NADSYN1 was added gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3 Review for gene: NADSYN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.214 | NECTIN1 |
Rhiannon Mellis gene: NECTIN1 was added gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 Review for gene: NECTIN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.214 | NEDD4L | Rhiannon Mellis reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.214 | TOR1A | Arina Puzriakova Phenotypes for gene: TOR1A were changed from Arthrogryposis multiplex congenita 5 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.213 | NIPAL4 |
Rhiannon Mellis gene: NIPAL4 was added gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 Review for gene: NIPAL4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.213 | NXN |
Rhiannon Mellis gene: NXN was added gene: NXN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 Review for gene: NXN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.211 | P4HB | Rhiannon Mellis reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.211 | TNNT3 | Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.209 | PAX7 |
Rhiannon Mellis gene: PAX7 was added gene: PAX7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis Review for gene: PAX7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.209 | PBX1 |
Rhiannon Mellis gene: PBX1 was added gene: PBX1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.209 | PFKM |
Rhiannon Mellis gene: PFKM was added gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII Review for gene: PFKM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: literature supports arthrogryposis in severe infantile form Sources: Expert list, Literature |
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Fetal anomalies v1.209 | PIBF1 |
Rhiannon Mellis gene: PIBF1 was added gene: PIBF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 Review for gene: PIBF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Sources: Expert list |
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Fetal anomalies v1.205 | PIH1D3 |
Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list Situs inversus in ~50% |
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Fetal anomalies v1.205 | PIH1D3 |
Rhiannon Mellis gene: PIH1D3 was added gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked Review for gene: PIH1D3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.205 | PIK3C2A |
Rhiannon Mellis gene: PIK3C2A was added gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome Review for gene: PIK3C2A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.205 | PLAG1 |
Rhiannon Mellis gene: PLAG1 was added gene: PLAG1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4 Review for gene: PLAG1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list |
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Fetal anomalies v1.205 | PLG |
Rhiannon Mellis gene: PLG was added gene: PLG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I Review for gene: PLG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia Sources: Expert list |
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Fetal anomalies v1.205 | POLG2 |
Rhiannon Mellis gene: POLG2 was added gene: POLG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Review for gene: POLG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.205 | POP1 |
Rhiannon Mellis gene: POP1 was added gene: POP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2 Review for gene: POP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.205 | PRKAG2 |
Rhiannon Mellis gene: PRKAG2 was added gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital Review for gene: PRKAG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.203 | PRUNE1 | Rhiannon Mellis reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.202 | PYGM |
Rhiannon Mellis gene: PYGM was added gene: PYGM was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McArdle disease Review for gene: PYGM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.201 | RAB33B |
Rhiannon Mellis gene: RAB33B was added gene: RAB33B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 Review for gene: RAB33B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.201 | RBBP8 |
Rhiannon Mellis gene: RBBP8 was added gene: RBBP8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBBP8 were set to Seckel syndrome 2 Review for gene: RBBP8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.201 | RBM10 | Rhiannon Mellis reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.200 | RPL10 |
Rhiannon Mellis gene: RPL10 was added gene: RPL10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 Review for gene: RPL10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.196 | RPS7 |
Rhiannon Mellis gene: RPS7 was added gene: RPS7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8 Review for gene: RPS7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Radial dysplasia Sources: Expert list |
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Fetal anomalies v1.196 | RRAS2 |
Rhiannon Mellis gene: RRAS2 was added gene: RRAS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 Review for gene: RRAS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list |
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Fetal anomalies v1.195 | RSPH4A | Rhiannon Mellis reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.195 | RSPH9 | Rhiannon Mellis reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.195 | SCLT1 |
Rhiannon Mellis gene: SCLT1 was added gene: SCLT1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome Review for gene: SCLT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Copied from rare multisystem ciliopathies panel: PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4), PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family. PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein. = 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein. Sources: Literature |
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Fetal anomalies v1.194 | SDR9C7 |
Rhiannon Mellis gene: SDR9C7 was added gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 Review for gene: SDR9C7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.193 | SEC24D | Rhiannon Mellis reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683121; Phenotypes: Cole-Carpenter syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.193 | SERPINF1 |
Rhiannon Mellis gene: SERPINF1 was added gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI Review for gene: SERPINF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.193 | SERPINH1 |
Rhiannon Mellis gene: SERPINH1 was added gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X Review for gene: SERPINH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.193 | SGCG |
Rhiannon Mellis gene: SGCG was added gene: SGCG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5 Review for gene: SGCG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.192 | SIX6 |
Rhiannon Mellis gene: SIX6 was added gene: SIX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy Review for gene: SIX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Anophthalmia and microphthalmia Sources: Literature |
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Fetal anomalies v1.192 | SLC18A3 |
Rhiannon Mellis gene: SLC18A3 was added gene: SLC18A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic Review for gene: SLC18A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Literature |
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Fetal anomalies v1.189 | SLC29A3 |
Rhiannon Mellis gene: SLC29A3 was added gene: SLC29A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome Review for gene: SLC29A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Literature |
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Fetal anomalies v1.187 | SMPD4 |
Rhiannon Mellis gene: SMPD4 was added gene: SMPD4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Review for gene: SMPD4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489 Sources: Literature |
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Fetal anomalies v1.187 | SNX10 |
Rhiannon Mellis gene: SNX10 was added gene: SNX10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 Review for gene: SNX10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.187 | SOX18 |
Rhiannon Mellis gene: SOX18 was added gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome Review for gene: SOX18 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Literature, Expert list |
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Fetal anomalies v1.187 | SOX6 |
Rhiannon Mellis gene: SOX6 was added gene: SOX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome Review for gene: SOX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Literature |
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Fetal anomalies v1.187 | SP7 |
Rhiannon Mellis gene: SP7 was added gene: SP7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII Review for gene: SP7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Literature |
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Fetal anomalies v1.187 | SPARC | Rhiannon Mellis reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.187 | STAC3 |
Rhiannon Mellis gene: STAC3 was added gene: STAC3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to PMID: 30168660 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch Review for gene: STAC3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660 Sources: Literature |
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Fetal anomalies v1.187 | STIL | Rhiannon Mellis reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.187 | STRADA |
Rhiannon Mellis gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy Review for gene: STRADA was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | SULT2B1 |
Rhiannon Mellis gene: SULT2B1 was added gene: SULT2B1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 Review for gene: SULT2B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TBC1D32 |
Rhiannon Mellis gene: TBC1D32 was added gene: TBC1D32 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556 Phenotypes for gene: TBC1D32 were set to OFD IX Review for gene: TBC1D32 was set to GREEN Added comment: Now 5 families reported: The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype: - One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs - The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet - There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly Sources: Literature |
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Fetal anomalies v1.185 | TCTEX1D2 |
Rhiannon Mellis gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly Review for gene: TCTEX1D2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TENM3 |
Rhiannon Mellis gene: TENM3 was added gene: TENM3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9 Review for gene: TENM3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMEM38B |
Rhiannon Mellis gene: TMEM38B was added gene: TMEM38B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV Review for gene: TMEM38B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMEM98 |
Rhiannon Mellis gene: TMEM98 was added gene: TMEM98 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 Review for gene: TMEM98 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMX2 |
Rhiannon Mellis gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Review for gene: TMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TNNT3 |
Rhiannon Mellis gene: TNNT3 was added gene: TNNT3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNT3 were set to 32779773 Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2 Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TNNT3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773 (copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B. Sources: Literature |
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Fetal anomalies v1.185 | TOE1 | Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | TOE1 | Rhiannon Mellis reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | TOR1A |
Rhiannon Mellis gene: TOR1A was added gene: TOR1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 29053766; 28516161 Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5 Review for gene: TOR1A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset Sources: Literature |
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Fetal anomalies v1.185 | TRAF3IP1 |
Rhiannon Mellis gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 Review for gene: TRAF3IP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TRAP1 |
Rhiannon Mellis gene: TRAP1 was added gene: TRAP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL Review for gene: TRAP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TRMT10A |
Rhiannon Mellis gene: TRMT10A was added gene: TRMT10A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1 Review for gene: TRMT10A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TSEN2 | Rhiannon Mellis reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | TSEN34 | Rhiannon Mellis reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | TSFM |
Rhiannon Mellis gene: TSFM was added gene: TSFM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 Review for gene: TSFM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: IUGR, decreased fetal movements, reduced brain gyri Sources: Literature |
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Fetal anomalies v1.185 | TXNDC15 |
Rhiannon Mellis gene: TXNDC15 was added gene: TXNDC15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Comment from copied from skeletal ciliopathies panel: Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis. Sources: Other Sources: Literature |
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Fetal anomalies v1.185 | USP9X | Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | VAMP1 |
Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Phenotype = congenital myasthenic syndrome. Reported patients present with severe hypotonia from birth, some have contractures, unclear if present at birth but decreased fetal movements reported so could present prenatally. PubMed: 28600779, 28253535, 28168212 Sources: Literature |
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Fetal anomalies v1.185 | VAMP1 |
Rhiannon Mellis gene: VAMP1 was added gene: VAMP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25 Review for gene: VAMP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | VEGFC |
Rhiannon Mellis gene: VEGFC was added gene: VEGFC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VEGFC were set to Lymphatic malformation 4 Review for gene: VEGFC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | VRK1 | Rhiannon Mellis reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | WDR81 |
Rhiannon Mellis gene: WDR81 was added gene: WDR81 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies Review for gene: WDR81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | XYLT2 | Rhiannon Mellis reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloocular syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | ZMYND10 | Rhiannon Mellis reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 22; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | AKT2 |
Rhiannon Mellis gene: AKT2 was added gene: AKT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy Review for gene: AKT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | ADAMTS3 |
Rhiannon Mellis gene: ADAMTS3 was added gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 Review for gene: ADAMTS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | ABL1 | Rhiannon Mellis reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects and skeletal malformations syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.184 | NUAK2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data. Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag) |
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Fetal anomalies v1.183 | AMBRA1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient unrelated cases and supportive functional data. However, only a single publication linking this gene to human disease at present (PMID:32333458). Segregation data was not provided and penetrance remains unclear. AMBRA1 was investigated by targeted sequencing and so there also is a possibility of variants in other genes. Currently the evidence is insufficient for a Green rating, but this may be revised if further cases/clinical evidence arise (added 'watchlist' tag) |
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Fetal anomalies v1.180 | CALCRL | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.178 | SHROOM4 | Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.176 | TMEM260 | Arina Puzriakova Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.171 | NONO | Arina Puzriakova Phenotypes for gene: NONO were changed from SYNDROMIC INTELLECTUAL DISABILITY to Left ventricular non-compaction cardiomyopathy (LVNC); Ventricular septal defect (VSD); Pulmonary stenosis; Atresia; Ebstein’s anomaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.170 | NONO | Arina Puzriakova Added comment: Comment on list classification: Currently there is not enough evidence to promote this gene to Green. Additional cases with a fetally-relevant phenotype are required prior to inclusion at diagnostic-grade. Maintaining Amber rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.168 | SNAP29 | Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there is not enough evidence to promote to Green. Phenotypes do not appear to be fetally-relevant and gestation is typically uneventful. However, symptoms do arise during the first year of life. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.167 | SNAP29 | Arina Puzriakova Phenotypes for gene: SNAP29 were changed from CEDNIK SYNDROME to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.165 | NUP88 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects. NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag. |
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Fetal anomalies v1.162 | TRAPPC12 | Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there are not enough unrelated cases with a fetally-relevant phenotype to promote to Green. Added 'watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.160 | TRAPPC12 | Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.158 | TRAPPC12 | Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.158 | NEK9 |
Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). At least 3 unrelated families presenting a similar fetally-relevant phenotype in association with different biallelic variants in this gene. NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype. |
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Fetal anomalies v1.156 | NEK9 | Arina Puzriakova Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10 617022 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.155 | MN1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Multiple unrelated individuals (>20) described with a complex developmental disorder and de novo truncating MN1 variants. This gene will be flagged for review to determine whether the phenotype is fetally-relevant and there is enough evidence to include as Green. Plausible that some features of the disorder, such as craniofacial abnormalities and structural brain anomalies may be detected prenatally. However based on published clinical descriptions, antenatal history was uneventful in most cases - but reports did include fetal brain anomalies (1), NICU admission (1) and IUGR (2). Similarly, neonatal problems were only reported in a few patients but included respiratory issues (3), abnormal ABR (1), congenital diaphragmatic hernia (1), perinatal hypoxia (1), congenital hypothyroidism (1), hearing impairment (1) and SCBU admission (1) (see Supplementary material in PMID: 31834374) |
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Fetal anomalies v1.153 | ATP1A2 | Arina Puzriakova changed review comment from: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 31608932). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.153 | ATP1A2 | Arina Puzriakova Added comment: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.151 | TMEM216 |
Arina Puzriakova changed review comment from: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.; to: Comment on list classification: At least 3 reported variants in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype. |
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Fetal anomalies v1.149 | TMEM216 |
Arina Puzriakova Added comment: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype. |
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Fetal anomalies v1.147 | TMEM107 |
Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474 and 26595381), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect), as well as the OFD syndrome cases. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) |
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Fetal anomalies v1.147 | TMEM107 |
Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag) |
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Fetal anomalies v1.147 | TMEM107 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag) |
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Fetal anomalies v1.143 | KIF14 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) |
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Fetal anomalies v1.142 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12; Microcephaly 20, primary to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.137 | B9D2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants reported in at least four unrelated cases (2 with Joubert syndrome, PMID: 26092869; and 2 with MKS, PMIDs: 21763481 and 31411728) Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as sufficient number of unrelated cases with fetally-relevant phenotype due to variants in the B9D2 gene. |
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Fetal anomalies v1.134 | AP4E1 | Arina Puzriakova Phenotypes for gene: AP4E1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.133 | AP4B1 | Arina Puzriakova Phenotypes for gene: AP4B1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.132 | TBCD | Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.130 | TRIP4 | Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.126 | HSPG2 | Arina Puzriakova Phenotypes for gene: HSPG2 were changed from DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE; SCHWARTZ-JAMPEL SYNDROME to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.123 | AARS | Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.121 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from SEX REVERSAL TYPE 3; MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.120 | FKBP8 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 5 cases reported with plausible disease causing variants but only the FKBP8 gene looked at. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.119 | FKBP8 |
Eleanor Williams gene: FKBP8 was added gene: FKBP8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FKBP8 were set to 32969478 Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414 Review for gene: FKBP8 was set to AMBER Added comment: Not associated with a phenotype in OMIM. PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects. Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered. Sources: Literature |
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Fetal anomalies v1.118 | SCN1A | Arina Puzriakova Phenotypes for gene: SCN1A were changed from SCN1A-RELATED SEIZURE DISORDERS to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.116 | SCN1A | Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.115 | SCN1A | Arina Puzriakova reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.115 | MN1 |
Rhiannon Mellis gene: MN1 was added gene: MN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774 Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to GREEN Added comment: Copied from MN1 review on Cortical malformations panel: Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P. Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis). Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. Sources: Literature |
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Fetal anomalies v1.115 | DDC | Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.113 | COX6B1 | Arina Puzriakova Phenotypes for gene: COX6B1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.112 | SCO1 | Arina Puzriakova Phenotypes for gene: SCO1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.108 | GFRA1 |
Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel. Sources: Literature |
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Fetal anomalies v1.108 | MFSD2A | Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.107 | NEK9 |
Rhiannon Mellis edited their review of gene: NEK9: Added comment: Deden et al (2020) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis. Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.; Changed rating: GREEN; Changed publications: PMID: 26908619, 26633546, 32333414; Changed phenotypes: Arthrogryposis, short long bones |
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Fetal anomalies v1.104 | USP18 |
Arina Puzriakova Added comment: Comment on list classification: With addition of the recently reported case (PMID:31940699) there is now a total of three families with pseudo-TORCH syndrome due to biallelic variants in USP18 (two carrying the same founder variant). A rating upgrade from Amber to Green should be considered and therefore this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag). |
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Fetal anomalies v1.101 | TMEM260 | Rhiannon Mellis reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28318500; Phenotypes: STructural heart defects, Renal anomalies, Agenesis of corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.100 | CTNND1 | Eleanor Williams reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, 617681, cardiovascular anomalies, developmental delay, choanal atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.99 | TRPM7 | Eleanor Williams reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 32503408, 31423533; Phenotypes: Cardiac arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.97 | SMN1 | Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.97 | NUAK2 |
Zornitza Stark gene: NUAK2 was added gene: NUAK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUAK2 were set to 32845958 Phenotypes for gene: NUAK2 were set to Anencephaly Review for gene: NUAK2 was set to AMBER Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out. Sources: Literature |
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Fetal anomalies v1.95 | B9D2 |
Rhiannon Mellis gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to PMID: 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481) 2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869) NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH. Sources: Literature, NHS GMS |
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Fetal anomalies v1.95 | TMEM107 |
Rhiannon Mellis gene: TMEM107 was added gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381 Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI Review for gene: TMEM107 was set to GREEN gene: TMEM107 was marked as current diagnostic Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494) 1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474) 1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381) NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH Sources: Literature, NHS GMS |
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Fetal anomalies v1.95 | KIF14 |
Rhiannon Mellis gene: KIF14 was added gene: KIF14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419) Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224) Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560) Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805) Sources: Literature |
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Fetal anomalies v1.95 | SLC20A1 |
Zornitza Stark gene: SLC20A1 was added gene: SLC20A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 32850778; 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN gene: SLC20A1 was marked as current diagnostic Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel. Sources: Literature |
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Fetal anomalies v1.95 | TRPM7 |
Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth Review for gene: TRPM7 was set to AMBER Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association. Sources: Literature |
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Fetal anomalies v1.95 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. New MOI. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature |
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Fetal anomalies v1.95 | TOGARAM1 | Arina Puzriakova Classified gene: TOGARAM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.95 | TOGARAM1 | Arina Puzriakova Gene: togaram1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.94 | TOGARAM1 |
Arina Puzriakova gene: TOGARAM1 was added gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. Sources: Literature |
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Fetal anomalies v1.74 | AMBRA1 |
Zornitza Stark gene: AMBRA1 was added gene: AMBRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 17589504; 32333458 Phenotypes for gene: AMBRA1 were set to Neural tube defects Review for gene: AMBRA1 was set to GREEN gene: AMBRA1 was marked as current diagnostic Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects. Sources: Literature |
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Fetal anomalies v1.74 | CEP120 |
Rhiannon Mellis gene: CEP120 was added gene: CEP120 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to PMID: 2720821; 25361962 Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly Review for gene: CEP120 was set to GREEN Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy. PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD). CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders. Sources: Literature |
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Fetal anomalies v1.74 | SLC12A6 | Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.73 | TMEM94 |
Rhiannon Mellis gene: TMEM94 was added gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to PMID: 30526868 Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies Review for gene: TMEM94 was set to GREEN Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868 Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | GDF1 |
Rhiannon Mellis gene: GDF1 was added gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) Review for gene: GDF1 was set to GREEN Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257 Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes) This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel. Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | CFAP53 |
Rhiannon Mellis gene: CFAP53 was added gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781 Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen Review for gene: CFAP53 was set to GREEN Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes). This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green) Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | ACVR2B |
Rhiannon Mellis gene: ACVR2B was added gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489 Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia Review for gene: ACVR2B was set to GREEN Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489 Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes). This gene is included in our local heterotaxy panel (NETRGL). Sources: Expert Review, Literature |
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Fetal anomalies v1.73 | COL3A1 |
Rhiannon Mellis gene: COL3A1 was added gene: COL3A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459 Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496 Penetrance for gene: COL3A1 were set to Incomplete Review for gene: COL3A1 was set to GREEN Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI. A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features. Sources: Literature |
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Fetal anomalies v1.73 | NUP88 |
Julia Baptista gene: NUP88 was added gene: NUP88 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to PMID: 30543681 Phenotypes for gene: NUP88 were set to fetal akinesia Review for gene: NUP88 was set to RED Added comment: Bonnin et al reported biallelic variants in two unrelated families. A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described. Sources: Literature |
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Fetal anomalies v1.73 | ITGA8 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting GLH review. Additional phenotypes were reported in the fetuses and sibling (who died perinatally) from PMID:24439109 (clubbed feet, facial dysmorphism, pulmonary hypoplasia, bilateral cryptorchidism) although renal agenesis is the primary phenotype and only 2 families from one paper. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.72 | ITGA8 |
Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period and presented with BRA and bilateral cryptorchidism. |
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Fetal anomalies v1.71 | ITGA8 |
Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period. |
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Fetal anomalies v1.69 | ITGA8 |
Rebecca Foulger commented on gene: ITGA8: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period. |
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Fetal anomalies v1.68 | REN | Rebecca Foulger commented on gene: REN: PMID:31736371. He et al., performed a study to identify the potentially pathogenic gene variants that contribute to the AR renal tubular dysgenesis (RTD) in an aborted fetus. WES was performed on the fetus and his parents. Compound heterozygous variants (c.963T>A, p.Y321X and c.492+1G>A splicing site mutation) were identified in the fetus, one inherited from each parent. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.67 | GREB1L | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following curation of PMID:29100091 which presents additional fetal cases of renal agenesis and GREB1L variants. Sufficient evidence for association of GREB1L with kidney agenesis, and phenotype can present fetally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.65 | GREB1L |
Rebecca Foulger commented on gene: GREB1L: PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L. Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C. |
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Fetal anomalies v1.64 | GREB1L |
Rebecca Foulger gene: GREB1L was added gene: GREB1L was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GREB1L were set to 29261186 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X). Sources: Literature |
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Fetal anomalies v1.60 | ACE | Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.59 | GJB2 | Rebecca Foulger commented on gene: GJB2: Note that GJB2 is no longer present on the DD panel of Gene2Phenotype. All GJB2 phenotypes (May 2020) are associated with the Gene2Phenotype skin panel. Red rating is still appropriate for this Fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.57 | PSAT1 | Rebecca Foulger Added comment: Comment on list classification: Rated 'probable' for Neu-Laxova syndrome in Gene2Phenotype, but there are sufficient cases from the literature to support causation (6 families in PMID:25152457 and 1 Chinese family in PMID:31903955). Therefore updated rating from Amber to Green: Fetally-relevant phenotype and sufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.54 | PSAT1 | Rebecca Foulger commented on gene: PSAT1: PMID:31903955 (Ni et al., 2019) report Chinese Neu-Laxova syndrome (NLS) patients from 2 families. Compound het PSAT1 variants R342W and Y70N were found in the proband from family 1. (PHGDH variants were identified in family 2). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.54 | PSAT1 | Rebecca Foulger commented on gene: PSAT1: PMID:25152457. Acuna-Hidalgo et al., 2014 report a rare AR disorder with severe malformations leading to prenatal or early postnatal lethality (Neu-Laxova syndrome). They identified variants in PHGDH, PSAT1 and PSPH in individuals with NLS, including 6 families with 3 different missense and frameshift PSAT1 variants which segregated with the disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.54 | ATP1A2 | Rebecca Foulger Added comment: Comment on list classification: Added to panel with Amber review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families reported in PMID:30690204 with a fetally-relevant phenotype (including fetal hydrops). Therefore rated Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.53 | ALG9 | Rebecca Foulger Phenotypes for gene: ALG9 were changed from AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to Gillessen-Kaesbach-Nishimura syndrome, 263210; AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.52 | ALG9 | Rebecca Foulger changed review comment from: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.; to: Comment on list classification: ALG9 congenital disorder of glycosylation has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.52 | ALG9 | Rebecca Foulger Added comment: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.51 | ALG9 | Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.49 | ALG9 |
Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys. |
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Fetal anomalies v1.49 | ALG9 |
Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys. |
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Fetal anomalies v1.49 | ALG9 | Rebecca Foulger commented on gene: ALG9: PMID:25966638 (Tham et al) performed fetal autopsy on 3 affected fetuses who died in utero from 2 unrelated families (from Turkey and Iraq) with Gillessen-Kaesbach-Nishimura syndrome (AR lethal skeletal dysplasia). All patients were homozygous for a splicing variant in ALG9 (NM_024740.2: c.1173+2T>A). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.49 | ALG9 | Rebecca Foulger Added comment: Comment on list classification: Inborn errors of glycosylation can be a cause of non‐immune hydrops fetalis. Although G2P has a 'probable' GDA rating, there is sufficient evidence to link ALG9 to a glycosylation disorder. Approx 20% of cases show non-immune hydrops fetalis (NIHF). In PMID:26453364, 1/10 patients had NIHF: the patient was one of 4 patients within a consanguineous family and hydrops was not reported for the other 3 cousins. 3/15 ALG9 families reported with hydrops in PMID:31420886. Since phenotype is inconsistent, have kept rating as Amber awaiting further clinical review as to whether there are sufficient cases for inclusion on Fetal anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.46 | ALG9 | Rebecca Foulger commented on gene: ALG9: PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%). Full text unavailable at time of curation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.46 | ALG9 | Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Patient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene. Table 2 doesn't list Hydrops in any of the previous patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.45 | AHCY | Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Two unrelated families with hydrops reported (PMID:30121674, 20852937). Note that previous reports of AHCY deficiency do not include hydrops (e.g. PMID:15024124). Overall, phenotype is relevant to the panel but currently insufficient evidence for Green rating. Rated Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.44 | AHCY | Rebecca Foulger commented on gene: AHCY: PMID:20852937. Grubbs et al., 2010 report 2 sisters born with fetal hydrops and compound het for 2 variants in AHCY (p.Arg49Cys and p.Asp86Gly). Phenotypes included severe hypotonia/myopathy, feeding problems, and respiratory failure. The sisters died age 25 days and 122 days. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.43 | SMG9 | Rebecca Foulger Phenotypes for gene: SMG9 were changed from SMG9 Multiple Congenital Anomaly Syndrome to SMG9 Multiple Congenital Anomaly Syndrome; Heart and brain malformation syndrome, 616920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.41 | SMG9 | Rebecca Foulger commented on gene: SMG9: PMID:31390136. Lecoquierre et al., 2019 performed exome sequencing in a patient with syndromic DD and diverse malformations including cleft lip and palate, facial dysmorphia, brain abnormalities, herat defect, growth retardation and severe infections. She carried a homozygous SMG9 variant, p.(Gln393*). Her unaffected parents were both heterozygous. Phenotypes were first noted in-utero: polyhydamnios, lateral cleft lip and palate, and IUGR noted on ultrasound. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.41 | SMG9 | Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.41 | TUBA8 | Rebecca Foulger Added comment: Comment on list classification: The reanalysis in PMID:28388629 casts doubt that TUBA8 is responsible for the morphological phenotypes initially reported in PMID:19896110. Only 2 families (of possible shared descent) were reported. Therefore insufficient evidence for Green rating. Downgraded from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.40 | TUBA8 | Rebecca Foulger commented on gene: TUBA8: In 4 affected members of 2 consanguineous Pakistani families with MIM:613180, Abdollahi et al. (2009, PMID:19896110) identified a homozygous 14-bp deletion 11 bp upstream of the exon 2 splice site junction in TUBA8. The families may have common ancestory. All obligate carriers were heterozygous. The patients had neonatal hypotonia, profound mental retardation, essentially no psychomotor development, optic nerve hypoplasia, and thickened cortex with polymicrogyria and absent corpus callosum. BUT due to lack of a mouse TUBA8 phenotype, the authors in PMID:28388629 (Diggle et al 2017) reanalysed their patients from PMID:19896110 and found an additional LOF variant in SNAP29 (p.Ser163Lysfs*6). The authors suggest that SNAP29 deficiency, rather than TUBA8 deficiency, may be responsible for the patient phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.37 | PAICS | Rebecca Foulger Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to Polyhydramnios; multiple congenital abnormalities; early neonatal death | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.36 | PAICS | Rebecca Foulger changed review comment from: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense vairant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.; to: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.36 | MSL3 | Rebecca Foulger Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.32 | FGF20 |
Rebecca Foulger gene: FGF20 was added gene: FGF20 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282; 23112089 Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721 Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089). Sources: Literature |
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Fetal anomalies v1.30 | EXOC3L2 | Rebecca Foulger changed review comment from: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.; to: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.30 | EXOC3L2 | Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.28 | EXOC3L2 | Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.28 | EXOC3L2 |
Rebecca Foulger gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound. Sources: Literature |
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Fetal anomalies v1.27 | DHCR7 | Rebecca Foulger commented on gene: DHCR7: PMID:31840946 (Schoner et al., 2020) performed autopsies and DHCR7 gene analyses in 8 fetuses suspected of having SLOS. 5/9 fetuses presented with classic SLOS features including 4 with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. DHCR7 variants were confirmed in cases 1-5 and 7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.26 | POLE | Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.; to: Comment on list classification: Originally added to panel as Amber based on PMID:30503519. Updated rating from Amber to Green with curation of additional paper PMID:25948378 who report a separate individual with IUGR. Phenotype relevant to panel, and sufficient evidence to support causation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.22 | POLE | Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl homozygous for a splice variant in POLE1 (c.4444 + 3A > G). Fetal anomalies on the ultrasound included intrauterine growth restriction, short long bones, suspected skull abnormalities nad oligohydamnios. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.20 | POLE |
Rebecca Foulger gene: POLE was added gene: POLE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset. Sources: Literature |
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Fetal anomalies v1.14 | MYH11 | Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.7 | PAICS |
Zornitza Stark gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779 Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities Review for gene: PAICS was set to RED Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function. Sources: Literature |
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Fetal anomalies v1.6 | CEP55 | Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: MARCH phenotype is appropriate for fetal panel, and 3 unrelated fetal cases reported in literature. Not yet associated with a disorder in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 | Rebecca Foulger changed review comment from: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.; to: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant (p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:28295209. Bondeson et al report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 | Rebecca Foulger commented on gene: CEP55: PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 |
Rebecca Foulger gene: CEP55 was added gene: CEP55 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28264986; 28295209 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel. Sources: Other |
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Fetal anomalies v1.3 | SMG9 | Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations Review for gene: ATP1A2 was set to AMBER gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia. Sources: Expert list |
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Fetal anomalies v0.375 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.374 | SHOX | Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.371 | ADNP | Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.369 | BICD2 | Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis; Pterygium | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.368 | BICD2 | Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.367 | BICD2 | Rebecca Foulger commented on gene: BICD2: PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.367 | BICD2 | Rebecca Foulger commented on gene: BICD2: PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.367 | BICD2 | Rebecca Foulger commented on gene: BICD2: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth. The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.366 | BICD2 | Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.359 | KLF1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic' to 'BOTH AD+AR' (after agreement from Rhiannon Mellis, GOSH), to match the MOI on the Fetal hydrops v.1.16 panel. The expanded MOI is based on compound heterozygous cases in PMID:25724378 and PMID:28361594. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.358 | CRYBB1 | Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.357 | CRYBB1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the 'confirmed' disorder in DDG2P has 'monoallelic' inheritance (and 'probable' rating for the biallelic disorders), have kept the MOI as 'both AD and AR' on the fetal panel so all cataract cases are picked up. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.355 | FBN1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both AD + AR' to 'MONOALLELIC' only to match current DDG2P Allelic requirement of 'monoallelic' for all confirmed disorders (SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.352 | SCO2 | Rebecca Foulger commented on gene: SCO2: PMID:18924171 (Verdijk et al, 2008) report the first prenatal diagnosis of a compound heterozygous SCO2 variant in the literature. The sibling died of fatal infantile cardioencephalomyopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.350 | SIK3 | Rebecca Foulger Added comment: Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.345 | FAM58A | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A (CCNQ) is an X-linked gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.342 | ANAPC1 | Rebecca Foulger commented on gene: ANAPC1: Added ANAPC1 to the Fetal anomalies panel and rated Green on approval from Anna de Burca and Richard Scott (Genomics England Clinical team). Note yet associated with a disorder in OMIM but evidence comes from PMID:31303264 (Ajeawung et al., 2019) where they report 10 individuals (7 families including 3 families of Amish ancestry) with Rothmund-Thomson Syndrome Type 1 and biallelic variants in ANAPC1. Phenotype includes skeletal abnormalities and short stature. All individuals carried an intronic splicing variant (NM_022662.3:c.2705−198C>T): in 3 Amish families plus individual 4, this intronic variant was found in a homozygous state. In the remaining families, the intronic variant was found in trans with one of three other LOF variants. Therefore sufficient cases to support a Green rating plus fetally-relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.341 | NMNAT2 |
Michael Coleman gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Research Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to PMID: 31136762 Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta Penetrance for gene: NMNAT2 were set to Complete Review for gene: NMNAT2 was set to GREEN Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398) Sources: Research |
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Fetal anomalies v0.339 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | IARS | Louise Daugherty commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | QARS | Louise Daugherty Tag new-gene-name tag was added to gene: QARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | QARS | Louise Daugherty commented on gene: QARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | KARS | Louise Daugherty Tag new-gene-name tag was added to gene: KARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | KARS | Louise Daugherty commented on gene: KARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | AARS | Louise Daugherty Tag new-gene-name tag was added to gene: AARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | AARS | Louise Daugherty commented on gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | DARS | Louise Daugherty Tag new-gene-name tag was added to gene: DARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | DARS | Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | DARS | Louise Daugherty commented on gene: DARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.337 | SASS6 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match 'possible' Disease confidence rating in PAGE Additional genes list. Note that SASS6 is not currently associated with a disorder in Gene2Phenotype. Associated with OMIM disorder: ?Microcephaly 14, primary, autosomal recessive, 616402' based on 1 reported family. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.333 | SMARCAL1 | Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: IUGR can present but is not severe. Action taken: Demoted SMARCAL1 gene rating from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.333 | MFSD8 | Rebecca Foulger commented on gene: MFSD8: Kept rating of MFSD8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.333 | VPS13B | Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: RM notes that Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.333 | VPS13B | Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.332 | VPS13B | Rebecca Foulger commented on gene: VPS13B: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.332 | GALC | Rebecca Foulger Added comment: Comment on list classification: Promoted GALC from Red to Green based on review by Anna de Burca, and agreement from Rhiannon Mellis (GOSH) and Richard Scott (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | KCTD7 | Rebecca Foulger commented on gene: KCTD7: Kept rating of KCTD7 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | CLN8 | Rebecca Foulger commented on gene: CLN8: Kept rating of CLN8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | CLN5 | Rebecca Foulger commented on gene: CLN5: Kept rating of CLN5 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | CLN3 | Rebecca Foulger commented on gene: CLN3: Kept rating of CLN3 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | TPP1 | Rebecca Foulger commented on gene: TPP1: Kept rating of TPP1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | PPT1 | Rebecca Foulger commented on gene: PPT1: Kept rating of PPT1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.331 | CTSD | Rebecca Foulger commented on gene: CTSD: Kept rating of CTSD as Green, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.329 | PDHA1 | Rebecca Foulger commented on gene: PDHA1: Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.329 | PTEN | Rebecca Foulger changed review comment from: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; to: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Hydrocephalus is very unusual, and PTEN is on the Hydrocephalus panel because of the macrocephaly phenotype. Demote from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.328 | SLC4A4 | Rebecca Foulger commented on gene: SLC4A4: SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.327 | IARS | Sarah Leigh Tag new-gene-name tag was added to gene: IARS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.327 | IARS | Sarah Leigh commented on gene: IARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.326 | TRPV6 | Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.324 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188 Review for gene: TRPV6 was set to AMBER Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Sources: Literature |
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Fetal anomalies v0.318 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.318 | IARS | Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.318 | ARL13B | Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.318 | MYH10 | Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.316 | INTU | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.315 | FRMD4A | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.314 | EIF2B2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.313 | DOK7 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.312 | NDUFAF5 | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | DOK7 | Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GATA2 | Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MSH2 | Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MSH6 | Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MLH1 | Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | ABCD4 | Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PTEN | Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | ABCC8 | Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MRPS22 | Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SCN2A | Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | RAC1 | Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | ACTA1 | Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TCTN2 | Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | BRAT1 | Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | CNOT1 | Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SBDS | Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TCF20 | Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GAA | Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TTC19 | Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TMEM70 | Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TMEM126B | Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TK2 | Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SURF1 | Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SLC25A26 | Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SDHAF1 | Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SDHA | Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SCO2 | Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SCO1 | Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | POLG | Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PNPT1 | Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PDSS2 | Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PDHX | Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PC | Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NFU1 | Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFV1 | Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFS8 | Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFS7 | Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFS4 | Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFS1 | Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDUFA1 | Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MT-TP | Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MPV17 | Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | LRPPRC | Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FARS2 | Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | DLD | Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | COX6B1 | Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | COX15 | Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | COX10 | Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | COQ8A | Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | COQ2 | Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | BCS1L | Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SLC39A13 | Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SMAD3 | Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | CYP1B1 | Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SCN4A | Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NDP | Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | NPHP4 | Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | DPAGT1 | Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FKTN | Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PMS2 | Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MMACHC | Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | LMBRD1 | Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MMADHC | Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | HCFC1 | Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SETD5 | Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GALC | Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | ROGDI | Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | DNMT3B | Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TUBB4A | Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FTL | Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GALK1 | Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FH | Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GALE | Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TBCE | Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | WRAP53 | Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | LAMP2 | Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FOXG1 | Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PAX8 | Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | UROS | Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | PAX6 | Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | BFSP2 | Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | HDAC4 | Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | POLR3B | Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SLC25A38 | Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.310 | NDUFAF5 |
Rebecca Foulger gene: NDUFAF5 was added gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238 |
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Fetal anomalies v0.310 | FRMD4A |
Rebecca Foulger gene: FRMD4A was added gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071 Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 |
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Fetal anomalies v0.310 | FARS2 |
Rebecca Foulger Source Expert Review Red was added to FARS2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.309 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.308 | ALPL | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.304 | IARS | Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.303 | IARS | Rebecca Foulger Publications for gene: IARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.302 | IARS | Rebecca Foulger Classified gene: IARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.302 | IARS | Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.302 | IARS | Rebecca Foulger Gene: iars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.300 | MYO7A | Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted MYO7A gene rating from Amber to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.298 | COQ4 | Anna de Burca reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.296 | PDHB |
Anna de Burca gene: PDHB was added gene: PDHB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 26865159 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency Review for gene: PDHB was set to AMBER Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects. Sources: Literature |
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Fetal anomalies v0.294 | KIAA1109 |
Rebecca Foulger Added comment: Comment on mode of pathogenicity: The Mode of pathogenicity recorded in Gene2Phenotype for the disorder 'Brain atrophy, Dandy Walker and Contractures' is: All missense/in frame. However, as summarised in PMID:29290337 (Gueneau et al., 2018), case subjects compatible with life carry missense variants but many of the more severely affected cases harbor homozygous or compound het truncating alleles. Therefore changed the Mode of pathogenicity back to default so LOF variants are captured. |
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Fetal anomalies v0.293 | KIAA1109 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after agreement from Anna de Burca (Genomics England clinical team). KIAA1109 is Green on the 'Hydrocephalus' and 'Arthrogryposis' panels. Sufficient cases in OMIM to support association with Alkuraya-Kucinskas syndrome (MIM:617822) which includes arthrogryposis and brain abnormalities: severe cases are incompatible with life. Multiple ultrasounds abnormalities reported in PMIDs 30485398 and 29290337. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.290 | KIAA1109 | Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.288 | TCF20 | Eleanor Williams Phenotypes for gene: TCF20 were changed from TCF20 syndrome to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | CNOT1 | Rebecca Foulger commented on gene: CNOT1: Keep as amber and added watchlist tag on advice from Helen Brittain (Genomics England Clinical Fellow);this might be a specific variant-related phenotype, and there is insufficient evidence for the gene in general at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | POMK | Rebecca Foulger Marked gene: POMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | COG4 | Rebecca Foulger Marked gene: COG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | HNRNPK | Rebecca Foulger Marked gene: HNRNPK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | HNRNPK | Rebecca Foulger Added comment: Comment when marking as ready: Anna de Burca (Genomics England clinical team) confirmed that Green rating was correct for HNRNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | MYRF | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.281 | MYRF | Rebecca Foulger Phenotypes for gene: MYRF were changed from congenital diaphragmatic hernia, cardiac defect, disorders of sexual development to Cardiac-urogenital syndrome, 618280; Congenital diaphragmatic hernia (CDH); Disorders of sex development (DSD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.279 | H19 | Rebecca Foulger Added comment: Comment on list classification: Demoted gene from Green to Red based on group clinical review, and confirmation from Richard Scott. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.278 | H19 | Rebecca Foulger commented on gene: H19: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in Spring 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Epigenetic. Action taken: Demoted H19 gene rating from Green to Red. Additional notes from clinical review: Relevant variants are in the upstream methylation region rather than the coding region, and therefore won't be detected on the exome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.277 | PKD1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although not yet listed in DD-Gene2Phenotype, PKD1 is listed in OMIM with AD inheritance for Polycystic kidney disease 1, 173900. Monoallelic MOI was also listed in the original PAGE Additional gene list. However the external review and the two cited papers support both AD and AR inheritance for polycystic kidney disease (PKD). PMID:23624871 note that recessive polycystic kidney disease (ARPKD) frequently presents antenatally or in the neonatal period with severe renal involvement. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.276 | PKD1 | Rebecca Foulger commented on gene: PKD1: PMID:23624871 (Gilbert et al., 2013) was added as a publication by Julia Baptista. The authors describe a male fetus with renal enlargement and oligohydramnios diagnosed at 27 weeks of gestation. This presentation resembled autosomal recessive PKD (ARPKD). Genetic analysis revealed a heterozygous truncating variant (p.Ser2788fs) in PKD1 inherited from the mother, and three unreported PKD1 variants inherited from the father. Although the authors don't exclude the possibility of a pathogenic variant in an additional gene, the paternally-inherited alleles support biallelic PKD1 alleles causing the fetal kidney anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.275 | PKD1 | Rebecca Foulger Phenotypes for gene: PKD1 were changed from Polycystic kidney disease 173900 to Polycystic kidney disease, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | MYRF |
Julia Baptista gene: MYRF was added gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 ) Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development Review for gene: MYRF was set to GREEN Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546) Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761). Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227). Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3. Sources: Expert Review, Literature |
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Fetal anomalies v0.273 | SOX9 | Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in SOX9 in a case where the main ultrasound finding was Shortened and bowed long bones, talipes (Table 1).; Changed rating: AMBER; Changed phenotypes: Shortened and bowed long bones, talipes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in L1CAM in a case where the main ultrasound finding was Hydrocephalus consistent with aqueductal stenosis (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrocephalus consistent with aqueductal stenosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo likely-pathogenic variant in PIK3R2 in a case where the main ultrasound finding was Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias (Table 1).; Changed rating: AMBER; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in RIT1 in a case where the main ultrasound finding was Hydrops, CNS malformation, congenital heart defect (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, CNS malformations, congenital heart defect | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | AMER1 | Rebecca Foulger edited their review of gene: AMER1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in AMER1 in a case where the main ultrasound finding was Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus (Table 1).; Changed rating: AMBER; Changed phenotypes: Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalu | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | FANCB | Rebecca Foulger edited their review of gene: FANCB: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous de novo variant in FANCB in a case where the main ultrasound finding was Ventriculomegaly, cardiac left-axis deviation, absent radii (Table 1).; Changed rating: AMBER; Changed phenotypes: Ventriculomegaly, cardiac left-axis deviation, absent radii | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | CYP11A1 | Rebecca Foulger edited their review of gene: CYP11A1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a homozygous variant in CYP11A1 in a case where the main ultrasound finding was Hydrops, cardiomegaly (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, cardiomegaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.; Changed rating: AMBER; Changed phenotypes: CNS malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | MRPS22 | Rebecca Foulger edited their review of gene: MRPS22: Added comment: Support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified compound heterozygous variants in MRPS22 in a case where the main ultrasound finding was Hydrops, CNS malformations, cardiomyopathy (Table 1).; Changed phenotypes: Hydrops, CNS malformations, cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | FOXP3 | Rebecca Foulger edited their review of gene: FOXP3: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in FOXP3 in a case where the main ultrasound finding was Hydrops, contractures, echogenic kidney, placentalmegaly (Table 1). An additional variant in COL10A1 was reported that the authors classified as a possible result.; Changed rating: AMBER; Changed phenotypes: Hydrops, contractures, echogenic kidney, placentalmegaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | PIK3CA | Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a de novo heterozygous variant in PIK3CA in a case where the main ultrasound finding was Brain malformations (Table 1). An inherited MYH3 variant was also detected in this case but was reclassified as likely benign based on allele frequency data.; Changed rating: AMBER; Changed phenotypes: Brain malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | PTPN11 | Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in PTPN11 in a case where the main ultrasound finding was Syndactyly, polydactyly (Table 1). An additional likely-pathogenic variant was identified in WDR35.; Changed rating: AMBER; Changed phenotypes: Syndactyly, polydactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).; Changed rating: AMBER; Changed phenotypes: Fontal bossing, talipes, syndactyly, abducted thumbs | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | RIPK4 | Rebecca Foulger edited their review of gene: RIPK4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous likely pathogenic variant in RIPK4 (plus a heterozygous VUS) in a case where the main ultrasound finding was Hydrops, diaphragmatic hernia, gracile ribs, contractures (Table 1). Additional VUS variants were reported in RSAD1 and PPAP2C.; Changed rating: AMBER; Changed phenotypes: Hydrops, diaphragmatic hernia, gracile ribs, contractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | HRAS | Rebecca Foulger edited their review of gene: HRAS: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in HRAS in a case where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | BBS4 | Rebecca Foulger edited their review of gene: BBS4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a pathogenic variant in BBS4 in a case where the main ultrasound finding was Bilateral enlarged cystic kidneys (Table 1). VUS variants in ANKS6 and PKD1 were also reported.; Changed rating: AMBER; Changed phenotypes: Bilateral enlarged cystic kidneys | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | PIEZO1 | Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a case with two homozygous variants in PIEZO1 (one pathogenic, one VUS), where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.250 | TRAF7 | Rebecca Foulger Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.249 | TRAF7 | Rebecca Foulger commented on gene: TRAF7: PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.248 | CNOT1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting clinical review. In summary: Sufficient (five) unrelated cases from two 2019 papers (PMID:31006513 and PMID:31006510) with holoprosencephaly, and pancreatic agenesis in 4/5 cases. The same heterozygous variant was recorded in all five individuals and authors of PMID:31006513 suggest phenotype is variant-specific rather than LOF. Mice require a homozygous variant to display a phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.247 | CNOT1 | Rebecca Foulger commented on gene: CNOT1: Kruszka et al., 2019 (PMID:31006510) report two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Proband 1 was born after a pregnancy complicated by IUGR. Additional medical problems include diabetes, pancreatice exocrine insufficiency and facial characteristics. No diabetic or pancreatic phenotype was recorded for proband 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.247 | CNOT1 | Rebecca Foulger commented on gene: CNOT1: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. The variant was de novo in two individuals, and was not present in the DNA sample from the third individual's father (maternal sample was unavailable). Mice required a homozygous variant to display a phenotype: in homozygous mice embryos (embryonically lethal) morphological abnormalities were apparent upon dissection including edema, a smaller dorsal pancreas, and exencephaly. The DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none had holoprosencephaly, diabetes or pancreatic or neurological structural malformations. The authors therefore suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.244 | HNRNPK | Rebecca Foulger commented on gene: HNRNPK: Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.244 | HNRNPK | Rebecca Foulger commented on gene: HNRNPK: Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum. Au et al., 2018 (PMID:29904177) report prenatal presentation with 5 patients showing increased nuchal translucency and 5 patients had hydronephrosis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.240 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.238 | TUBB2A | Rebecca Foulger Marked gene: TUBB2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.238 | TUBB2A | Rebecca Foulger Added comment: Comment when marking as ready: Maked TUBB2A as ready on April 30th 2019 following clinical review for fetal relevance, and a literature review for evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.237 | TUBB2A | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.235 | TUBB2A | Rebecca Foulger commented on gene: TUBB2A: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene if there is sufficient evidence. Additional notes from clinical review: Variable CNS features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.235 | DNAAF3 | Rebecca Foulger Added comment: Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes. Ciliary dyskinesia, primary, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.235 | DNAAF3 | Rebecca Foulger Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.234 | NEK1 | Rebecca Foulger Added comment: Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.233 | PCGF2 | Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.233 | PCGF2 | Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.232 | DDX3X | Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.231 | DDX3X | Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | ZNF423 | Rebecca Foulger Marked gene: ZNF423 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | ZNF423 | Rebecca Foulger Added comment: Comment when marking as ready: Marked ZNF423 as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | SUFU | Rebecca Foulger Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | SUFU | Rebecca Foulger Added comment: Comment when marking as ready: Marked SUFU as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | SMARCAL1 |
Rebecca Foulger Source Expert Review Red was added to SMARCAL1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.228 | PPM1D | Rebecca Foulger edited their review of gene: PPM1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PPM1D gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PLP1 | Rebecca Foulger edited their review of gene: PLP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PLCE1 | Rebecca Foulger edited their review of gene: PLCE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLCE1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | KCNJ11 | Rebecca Foulger edited their review of gene: KCNJ11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNJ11 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | KCNT1 | Rebecca Foulger edited their review of gene: KCNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | RPGRIP1 | Rebecca Foulger edited their review of gene: RPGRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPGRIP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | RPE65 | Rebecca Foulger edited their review of gene: RPE65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPE65 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | ROGDI | Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ROGDI gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC4A4 | Rebecca Foulger edited their review of gene: SLC4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC4A4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PEX14 | Rebecca Foulger edited their review of gene: PEX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | RNASEH2C | Rebecca Foulger edited their review of gene: RNASEH2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | RNASEH2B | Rebecca Foulger edited their review of gene: RNASEH2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | RNASEH2A | Rebecca Foulger edited their review of gene: RNASEH2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SPATA5 | Rebecca Foulger edited their review of gene: SPATA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SPRED1 | Rebecca Foulger edited their review of gene: SPRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SPG11 | Rebecca Foulger edited their review of gene: SPG11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC12A6 | Rebecca Foulger edited their review of gene: SLC12A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | POGZ | Rebecca Foulger edited their review of gene: POGZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PHIP | Rebecca Foulger edited their review of gene: PHIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | GLMN | Rebecca Foulger edited their review of gene: GLMN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GLMN gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TRAPPC9 | Rebecca Foulger edited their review of gene: TRAPPC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TANGO2 | Rebecca Foulger edited their review of gene: TANGO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TANGO2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TAF1 | Rebecca Foulger edited their review of gene: TAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TRPV4 | Rebecca Foulger edited their review of gene: TRPV4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TRIP12 | Rebecca Foulger edited their review of gene: TRIP12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SETD5 | Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SETD5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | UBE2A | Rebecca Foulger edited their review of gene: UBE2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE2A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | UBA5 | Rebecca Foulger edited their review of gene: UBA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBA5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | USB1 | Rebecca Foulger edited their review of gene: USB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted USB1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | UPF3B | Rebecca Foulger edited their review of gene: UPF3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UPF3B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | UFM1 | Rebecca Foulger edited their review of gene: UFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFM1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TSHB | Rebecca Foulger edited their review of gene: TSHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TMCO1 | Rebecca Foulger edited their review of gene: TMCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC25A38 | Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A38 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC39A13 | Rebecca Foulger edited their review of gene: SLC39A13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC39A13 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC6A8 | Rebecca Foulger edited their review of gene: SLC6A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SMARCA2 | Rebecca Foulger edited their review of gene: SMARCA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SLC9A6 | Rebecca Foulger edited their review of gene: SLC9A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC9A6 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SKIV2L | Rebecca Foulger edited their review of gene: SKIV2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SKIV2L gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SBDS | Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SBDS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SIX1 | Rebecca Foulger edited their review of gene: SIX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIX1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PRMT7 | Rebecca Foulger edited their review of gene: PRMT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SCN4A | Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN4A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TFAP2B | Rebecca Foulger edited their review of gene: TFAP2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TEK | Rebecca Foulger edited their review of gene: TEK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TEK gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | TBCD | Rebecca Foulger edited their review of gene: TBCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SMARCAL1 | Rebecca Foulger edited their review of gene: SMARCAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PAX8 | Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | WAC | Rebecca Foulger edited their review of gene: WAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WAC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PAX6 | Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX6 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SPR | Rebecca Foulger edited their review of gene: SPR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | SOX10 | Rebecca Foulger edited their review of gene: SOX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PTHLH | Rebecca Foulger edited their review of gene: PTHLH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.228 | PEPD | Rebecca Foulger edited their review of gene: PEPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | TRIM32 | Rebecca Foulger Marked gene: TRIM32 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | TRIM32 | Rebecca Foulger Added comment: Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | TBX22 | Rebecca Foulger Marked gene: TBX22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | TBX22 | Rebecca Foulger Added comment: Comment when marking as ready: Marked TBX22 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | GNAI1 | Rebecca Foulger Marked gene: GNAI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | GNAI1 | Rebecca Foulger Added comment: Comment when marking as ready: Marked GNAI1 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | CTDP1 | Rebecca Foulger Marked gene: CTDP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | CTDP1 | Rebecca Foulger Added comment: Comment when marking as ready: Marked CTDP1 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | WNT3 | Rebecca Foulger Marked gene: WNT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | WNT3 | Rebecca Foulger Added comment: Comment when marking as ready: Marked WNT3 as ready following clinical review, and review of evidence. April 29th 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.226 | EDAR |
Rebecca Foulger Source Expert Review Red was added to EDAR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Fetal anomalies v0.225 | COQ9 | Rebecca Foulger edited their review of gene: COQ9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Diagnostic variant in PAGE study - fetus with dilated heart, pericardial effusion, anhydramnios, IUGR. ; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | CWC27 | Rebecca Foulger edited their review of gene: CWC27: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 28285769 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SLC35A2 | Rebecca Foulger edited their review of gene: SLC35A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | WNT3 | Rebecca Foulger commented on gene: WNT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Currently insufficient evidence for fetally-relevant Tetra-Amelia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | G6PC3 | Rebecca Foulger edited their review of gene: G6PC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: G6PC3 was originally added to the Fetal anomalies panel from the PAGE Additional gene list. G6PC3 is not yet associated with a disorder in Gene2Phenotype but is associated in OMIM with Dursun syndrome and Neutropenia, severe congenital 4, autosomal recessive (both MIM:612541). Since structural features were noted in some patients, it was decided that on balance G6PC3 should be included on the panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | CTDP1 | Rebecca Foulger edited their review of gene: CTDP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Although CTDP1 has a 'confirmed' Disease confidence rating in DD-G2P for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, the disorder is prevalent in Bulagarian Gypsy populations, and is limited to a founder variant.; Changed publications: 14517542, 29174527, 20301787, 24690360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | TAPT1 | Rebecca Foulger edited their review of gene: TAPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | EDAR | Rebecca Foulger edited their review of gene: EDAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | ITPR1 | Rebecca Foulger edited their review of gene: ITPR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Demoted ITPR1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | H3F3A | Rebecca Foulger edited their review of gene: H3F3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: H3F3A was demoted to Red as it is no longer associated with a disorder in Gene2Phenotype, and has no associated disorder in OMIM.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | MYT1 | Rebecca Foulger edited their review of gene: MYT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: There is no disorder in OMIM assocaited with MYT1, but Oculo-auriculo-vertebral spectrum (OAVS, also called Goldenhar) is described in two papers from same group- PMID:28612832 and PMID:27358179. There are 3 MYT1 variants from these 2 papers (2 missense, 1 nonsense) in OAVS patients so just meets evidence threshold. Caution was taken given the genetic heterogeneity and non-genetic factors associated with OAVS/Goldenhar. However on balance it was decided that the 3 literature variants are sufficient evidence for inclusion of MYT1 on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28612832, 27358179 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | BMP2 | Rebecca Foulger edited their review of gene: BMP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Action taken: Updated rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | MAOA | Rebecca Foulger edited their review of gene: MAOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural features. Action taken: Demoted MAOA gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | MAFB | Rebecca Foulger edited their review of gene: MAFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | DEAF1 | Rebecca Foulger edited their review of gene: DEAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous DEAF1 review from Deirdre Cilliers, no structural features would present on a fetal scan. Action taken: Demoted DEAF1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | VPS53 | Rebecca Foulger edited their review of gene: VPS53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | PCGF2 | Rebecca Foulger edited their review of gene: PCGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SIM1 | Rebecca Foulger edited their review of gene: SIM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIM1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | C11orf70 | Rebecca Foulger edited their review of gene: C11orf70: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | TOP3A | Rebecca Foulger edited their review of gene: TOP3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SUZ12 | Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SPTBN2 | Rebecca Foulger edited their review of gene: SPTBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPTBN2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SEPSECS | Rebecca Foulger edited their review of gene: SEPSECS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | FBXO11 | Rebecca Foulger edited their review of gene: FBXO11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBXO11 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | DNAH9 | Rebecca Foulger edited their review of gene: DNAH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | CACNA1E | Rebecca Foulger edited their review of gene: CACNA1E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | TBL1XR1 | Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include based on combination of (subtle) phenotypes. Action taken: Upgraded TBL1XR1 from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | DDX3X | Rebecca Foulger edited their review of gene: DDX3X: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although clefting is not a consistent feature (DDX3X is Amber on the V1.34 Clefting panel in PanelApp), there are enough other phenotypes to warrant inclusion.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.224 | SMO | Rebecca Foulger commented on gene: SMO: Added 'somatic' tag alonside the 'mosaicism' tag following clinical review of SMO (April 26th 2019 with Lyn Chitty, Anna de Burca, Richard Scott and Rhiannon Mellis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.224 | ASCC1 | Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases from Julia Baptista's review to support inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.224 | MYH6 | Rebecca Foulger Added comment: Comment on mode of inheritance: MYH6 had 'monoallelic' inheritance in the original PAGE list/DD-G2P for all three disorders. Changed mode of inheritance from 'monoallelic' to 'biallelic' following group expert clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis on 26th April 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.223 | DARS2 |
Rebecca Foulger Source Expert Review Red was added to DARS2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Fetal anomalies v0.222 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TBX22 | Rebecca Foulger commented on gene: TBX22: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Amber for Abruzzo-Erickson syndrome (MIM: 302905) due to the limited evidence. The clefting phenotype has sufficient cases but is isolated cleft palate so unlikely to be seen prenatally (confirmed by Lyn Chitty, 26th April 2019). Therefore demote from Green to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SEC23B | Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: No hydrops case in PAGE study for SEC23B, but 2 unrelated cases published in PMID:20381388.; Changed publications: 20381388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | HCCS | Rebecca Foulger edited their review of gene: HCCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various fetal phenotypes on OMIM e.g. Ventricular septal defect (VSD) and diaphragmatic hernia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | GNAI1 | Rebecca Foulger commented on gene: GNAI1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber due to limited evidence (unpublished, Decipher only). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | GK | Rebecca Foulger edited their review of gene: GK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Neonatal phenotypes. Action taken: Demoted GK gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | DKC1 | Rebecca Foulger edited their review of gene: DKC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ERCC1 | Rebecca Foulger edited their review of gene: ERCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: IUGR amongst the phenotypes.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PNKP | Rebecca Foulger edited their review of gene: PNKP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PGK1 | Rebecca Foulger edited their review of gene: PGK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGK1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TGFBR1 | Rebecca Foulger edited their review of gene: TGFBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TGFB3 | Rebecca Foulger edited their review of gene: TGFB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TGFBR2 | Rebecca Foulger edited their review of gene: TGFBR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PGM3 | Rebecca Foulger edited their review of gene: PGM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGM3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TUBB4A | Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUBB4A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SMO | Rebecca Foulger edited their review of gene: SMO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Somatic mosaic.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SLC2A10 | Rebecca Foulger edited their review of gene: SLC2A10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SLC39A8 | Rebecca Foulger edited their review of gene: SLC39A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | RAB39B | Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ZFP57 | Rebecca Foulger edited their review of gene: ZFP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Intrauterine growth retardation leading to tiny babies.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | WRAP53 | Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WRAP53 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KCNJ10 | Rebecca Foulger edited their review of gene: KCNJ10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Digenic, and insufficient features that would be detected prenatally. Action taken: Demoted KCNJ10 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | IGF1R | Rebecca Foulger edited their review of gene: IGF1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | IGF1 | Rebecca Foulger edited their review of gene: IGF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | IGHMBP2 | Rebecca Foulger edited their review of gene: IGHMBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR, reduced fetal movements and foot deformities.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ERCC5 | Rebecca Foulger edited their review of gene: ERCC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | COL1A1 | Rebecca Foulger commented on gene: COL1A1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | GBA2 | Rebecca Foulger edited their review of gene: GBA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PPIB | Rebecca Foulger edited their review of gene: PPIB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | GLB1 | Rebecca Foulger edited their review of gene: GLB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ADNP | Rebecca Foulger edited their review of gene: ADNP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | COL6A2 | Rebecca Foulger edited their review of gene: COL6A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Both conditions have features that would present. Keep Mode of inhertiance as both monoallelic and biallelic.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | CENPJ | Rebecca Foulger edited their review of gene: CENPJ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | CDT1 | Rebecca Foulger edited their review of gene: CDT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | CDON | Rebecca Foulger edited their review of gene: CDON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Holoprosencephaly phenotype and CDON is Green on the 'Holoprosencephaly' V1.11 PanelApp panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | LRP4 | Rebecca Foulger edited their review of gene: LRP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KCTD7 | Rebecca Foulger edited their review of gene: KCTD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus collosum in one family. Action taken: Demoted KCTD7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KCNQ3 | Rebecca Foulger edited their review of gene: KCNQ3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No relevant structural features. Seizures postnatally. Action taken: Demoted KCNQ3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KBTBD13 | Rebecca Foulger edited their review of gene: KBTBD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KBTBD13 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | POLR3B | Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clinical features include natal teeth and thin corpus callosum (insufficient for inclusion on panel). Neurological features are variable. Action taken: Demoted POLR3B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | POLR3A | Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | FGFR1 | Rebecca Foulger commented on gene: FGFR1: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of Pfeiffer syndrome (MIM:101600). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | CHD7 | Rebecca Foulger commented on gene: CHD7: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of CHARGE syndrome (MIM:214800). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | FGF8 | Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Structural features from birth. PMID:20463092 report 2 families; 1 affected indiv also had cleft lip and palate. PMID:24280688 report a singleton with micropenis, cleft lip and palate, craniofacial anomalies and ventricular septal defect (VSD) at birth. PMID:18596921 report 6 families with missense variants; one also had variant in FGFR1; in one family 2 sibs had cleft lip/palate but reduced penetrance. Overall include on Fetal panel based on cleft lip/palate phenotype. ; Changed publications: 20463092, 24280688, 18596921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ANOS1 | Rebecca Foulger edited their review of gene: ANOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include on basis of renal agenesis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PROKR2 | Rebecca Foulger edited their review of gene: PROKR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KISS1R | Rebecca Foulger edited their review of gene: KISS1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No mention of structural features in OMIM. Action taken: Demoted KISS1R gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PROK2 | Rebecca Foulger edited their review of gene: PROK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROK2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROK2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ASAH1 | Rebecca Foulger edited their review of gene: ASAH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can (rarely) cause arthrogryposis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | RAB39B | Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SMAD3 | Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clefting phenotype is fetally-relevant, but exclude based on risk of incidental findings. Action taken: Demoted SMAD3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PTEN | Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although caution was taken when considering PTEN for the Fetal anomalies panel because of the cancer association (and therefore a potential incidental finding), macrocephaly presents at birth and PTEN is Green on the Hydrocephalus panel. Therefore after group review, it was decided to include PTEN on the Fetal anomalies panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | KCNQ1 | Rebecca Foulger edited their review of gene: KCNQ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | RRM2B | Rebecca Foulger edited their review of gene: RRM2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Presents early in life, so may potentially be diagnosed fetally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | MYH6 | Rebecca Foulger edited their review of gene: MYH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include MYH6 on the panel with BIALLELIC inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | LDB3 | Rebecca Foulger edited their review of gene: LDB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Concluded that myopathy is unlikely to produce Fetal hydrops in this instance. Although PMID:17394203 report a proband with variants in both TAZ and LDB3, where the mother had five miscarriages (plus two sons who died in infancy and 2 surviving children) the LDB3 variant is paternally-inherited, and therefore the maternally-inherited TAZ allele is more relevant. Action taken: Demoted LDB3 gene rating from Amber to Red.; Changed rating: RED; Changed publications: 17394203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | TGFB2 | Rebecca Foulger edited their review of gene: TGFB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | HSPD1 | Rebecca Foulger edited their review of gene: HSPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | DARS2 | Rebecca Foulger edited their review of gene: DARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Slowly progressive and manifests later. Action taken: Demoted DARS2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ATP13A2 | Rebecca Foulger edited their review of gene: ATP13A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP13A2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | BGN | Rebecca Foulger edited their review of gene: BGN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Review of BGN as Amber by Anna was before group review of the panel began. Following group review, it was decided that BGN should be included for the skeletal phenotype (Spondyloepimetaphyseal dysplasia) with X-linked RECESSIVE inheritance.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | PLA2G6 | Rebecca Foulger edited their review of gene: PLA2G6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLA2G6 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ALAD | Rebecca Foulger edited their review of gene: ALAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotype, and no structural phenotype to detect prenatally. Action taken: Demoted ALAD gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ABCD1 | Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | SNORD118 | Rebecca Foulger edited their review of gene: SNORD118: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.220 | FMR1 | Rebecca Foulger commented on gene: FMR1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.219 | MYH6 | Rebecca Foulger commented on gene: MYH6: In original PAGE file, mode of inheritance is 'Monoallelic' for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.218 | H3F3A | Rebecca Foulger commented on gene: H3F3A: H3F3A was added to the Fetal anomalies panel as Amber based on a 'probable' Disease confidence rating in the original PAGE file and DD-G2P. At the time of panel review, H3F3A is no longer associated with a disorder in DD-Gene2Phenotype (April 2019). No OMIM disorder is associated with H3F3A and there are no publications supporting an obvious gene:disorder association. Therefore demoted H3F3A from Amber to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.218 | MYT1 | Rebecca Foulger commented on gene: MYT1: Berenguer et al 2017 (PMID:28612832) identified a third (de novo) MYT1 variant in a patient with OAVS: c.323C>T p.Ser108Leu from a cohort of 57 new patients with a typically heterogeneous OAVS. From functional studies, it's still unclear how these variants impact retinoic acid signaling and contribute to the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.218 | MYT1 | Rebecca Foulger commented on gene: MYT1: Lopez et al 2016 (PMID:27358179) identified a heterozgous MYT1 de novo nonsense variant in one patient (c.25C>T, p.Arg9*) and one heterozygous inherited missense variant in second patient (c.314C>T, p.Ser105Leu) in a cohort of 169patients with OAVS. Functional studies by transient knockdown of myt1a in zebrafish, led to specific craniofacial cartilage alterations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.218 | MYT1 | Rebecca Foulger commented on gene: MYT1: 2 papers linking MYT1 to OAVS: PMID:28612832 and PMID:27358179. Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity (PMID:28612832). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.216 | TBL1XR1 | Rebecca Foulger commented on gene: TBL1XR1: Evidence assessment for 'Pierpont syndrome, 602342' comprises 6 unrelated patients from Heinen et al. 2016 (PMID:26769062) with the same de novo heterozygous missense variant in the TBL1XR1 gene (c.1337A>G, p.Y446C). Plus a male child with the same missense variant from Kahlert et al., 2017 (PMID:28562391). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.215 | SUFU | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published or clinical evidence. Joubert syndrome is fetally-relevant (see review by Dierdre Cilliers) but currently only 2 unrelated cases from one paper (PMID:28965847) and SUFU is Amber on the related 'Rare multisystem ciliopathy disorders' panel (for Joubert syndrome). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.213 | POMK | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | POMK | Rebecca Foulger commented on gene: POMK: Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | POMK | Rebecca Foulger commented on gene: POMK: POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | ZNF423 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.208 | ZNF423 | Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.208 | ZNF423 | Rebecca Foulger commented on gene: ZNF423: ZNF423 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ZNF423 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature, with biallelic/monoallelic inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.208 | ROBO1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on 3 probands reported in PMID:28592524 with ROBO loss of function variants and ventral septal heart defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.207 | ROBO1 | Rebecca Foulger commented on gene: ROBO1: Evidence for inclusion on the PAGE Additional gene list comes from a single study in Kruszka et al. (2017, PMID:28592524) but 3 families of different ethnicities; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Plus proband 1 had craniofacial findings, consistent with the mouse model. VSD can be detected prenatally (e.g. see PMID:24456562) so is relevant for the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.207 | ROBO1 | Rebecca Foulger commented on gene: ROBO1: ROBO1 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880), ROBO1 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.207 | ARL13B | Rebecca Foulger Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.206 | ARL13B | Rebecca Foulger Publications for gene: ARL13B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.205 | ARL13B | Rebecca Foulger Classified gene: ARL13B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.205 | ARL13B | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ARL13B is on the Additional gene list in the PAGE paper (Lord et al., 2019, PMID:30712880) based on prenatal presentation of a phenotype in the literature. Sufficient (3 unrelated cases in OMIM (Pakistani, American, Tunisian) with homozygous or compound heterozygous variants in ARL13B in patients with a Joubert phenotype (from PMIDs 18674751 and 25138100). Plus functional evidence to support impairment of ARL13B protein function (PMID:29255182). Therefore sufficient evidence to support threshold for Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.205 | ARL13B | Rebecca Foulger Gene: arl13b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.204 | ARL13B |
Rebecca Foulger commented on gene: ARL13B: ARL13B was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ARL13B is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature. ARL13B is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the biallelic disorder Joubert syndrome 8, 612291. |
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Fetal anomalies v0.203 | ADAMTS17 | Rebecca Foulger Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani-like syndrome 613195 to Weill-Marchesani 4 syndrome, recessive, 613195 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.201 | ADAMTS17 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ADAMTS17 is listed as an Additional gene in the PAGE paper (Lord et al., 2019, PMID:30712880) and therefore fetally-relevant (phenotype includes short stature). For evidence, there are sufficient cases in OMIM (5 variants from 5 different families (3 families from PMID:19836009 and one each from PMIDs:22486325 and 24940034) to support a Green (diagnostic-grade) rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.200 | ADAMTS17 |
Rebecca Foulger commented on gene: ADAMTS17: ADAMTS17 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ADAMTS17 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature. ADAMTS17 is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the disorder 'Weill-Marchesani 4 syndrome, recessive, 613195). |
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Fetal anomalies v0.199 | COG4 | Rebecca Foulger commented on gene: COG4: The evidence for Saul-Wilson syndrome (MIM:618150) comes from one 2018 paper (PMID:30290151): Ferreira et al. (PMID:30290151, 2018) identified 2 different de novo heterozygous vaiants in the COG4 gene in 14 individuals, c.1546G-A and c.1546G-C both of which give rise to an identical missense mutation (G516R). Functional analysis shows that a stable protein is produced and, despite Golgi collapse, glycosylation is relatively normal. Given the DD-G2P Disease confidence rating is 'probable' (March 2019), only a missense variant has been reported, and functional evidence doesn't yet show the effect of the protein alteration, I have kept the MOI for COG4 on the Fetal anomalies panel as biallelic (for the confirmed glycosylation disorder) and not included the monoallelic Saul-Wilson syndrome on the panel at this stage. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.199 | COG4 |
Rebecca Foulger commented on gene: COG4: COG4 is Green on the fetal panel based on 'confirmed' rating for a biallelic glycosylation disorder (COG4-CDG) and expert clinical review. A probable gene:disease disorder also exists in DD-Gene2Phenotype: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame, gain of function. DDG2P mode of inheritance: monoallelic. Saul-Wilson syndrome is a rare form of primordial dwarfism with severe pre-and postnatal growth retardation, and characteristic facial and radiographic features (PMID:30290151). Fetal relevance was confirmed by Anna de Burca but the evidence requires further investigation before the MOI is expanded to include monoallelic variants. |
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Fetal anomalies v0.199 | TTN |
Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance: In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound. In PMID:28040389 a fetal ultrasound reported Clubfoot. In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. |
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Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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Fetal anomalies v0.197 | DSTYK | Rebecca Foulger commented on gene: DSTYK: Note that a new gene:disorder association was added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Not yet included the spastic paraplegia phenotype (or biallelic inheritance) on this Fetal anomalies panel for DSTYK because the 3 families identified in PMID:28157540 have the same variant, and haplotype analysis suggests a Founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.197 | FBXO11 | Rebecca Foulger commented on gene: FBXO11: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.197 | SPTBN2 | Rebecca Foulger Added comment: Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.197 | SPTBN2 | Rebecca Foulger Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.196 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.195 | SIM1 | Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.195 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.194 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.192 | FBXO11 |
Rebecca Foulger gene: FBXO11 was added gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029 Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder |
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Fetal anomalies v0.192 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 29196973; 28636205 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 |
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Fetal anomalies v0.192 | SEPSECS |
Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D |
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Fetal anomalies v0.192 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.191 | POLR3A | Rebecca Foulger Added comment: Comment on phenotypes: Added 'Wiedemann-Rautenstrauch syndrome' to the phenotypes because (based on the OMIM summary) the condition includes intrauterine growth retardation amongst the phenotypes, and is therefore fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.189 | VPS53 | Rebecca Foulger commented on gene: VPS53: VPS53 was added to the Fetal anomalies panel from the PAGE Additional Gene List (with rating: probable). New gene:disorder association added to DDG2P in March 2019: Progressive cerebella-cerebral atrophy type 2. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.189 | VPS53 | Rebecca Foulger Phenotypes for gene: VPS53 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851; Progressive cerebella-cerebral atrophy type 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.188 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.188 | PCGF2 | Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.187 | PCGF2 | Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30712878: Homozgyous variant identified in C5orf42 (called CPLANE1 in Table 1) from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | TSC2 | Rebecca Foulger edited their review of gene: TSC2: Added comment: Additional evidence from PMID:30712878: De novo variants identified in TSC2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | RERE | Rebecca Foulger edited their review of gene: RERE: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RERE from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | RASA1 | Rebecca Foulger edited their review of gene: RASA1: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in RASA1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | FLVCR2 | Rebecca Foulger edited their review of gene: FLVCR2: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in FLVCR2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | ARMC9 | Rebecca Foulger edited their review of gene: ARMC9: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in ARMC9 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | PKD2 | Rebecca Foulger edited their review of gene: PKD2: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in PKD2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | ACTG2 | Rebecca Foulger edited their review of gene: ACTG2: Added comment: Additional evidence from PMID:30712878: De novo variant identified in ACTG2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional evidence from PMID:30712878: Hemizgous variant identified in L1CAM in male fetus from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | FLNB | Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNB from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNA from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | FGFR3 | Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:30712878: De novo variants identified in FGFR3 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | COL2A1 | Rebecca Foulger edited their review of gene: COL2A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL2A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | TMEM67 | Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in TMEM67 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | SOS1 | Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30712878: Paternal inherited variant identified in SOS1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RIT1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | RAPSN | Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in RAPSN from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | KMT2D | Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30712878: De novo variant identified in KMT2D from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.186 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL4A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | WDR19 | Rebecca Foulger edited their review of gene: WDR19: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in WDR19 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | TUBA1A | Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in TUBA1A from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | TMEM67 | Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in TMEM67 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | SOS1 | Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in SOS1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | RYR1 | Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in RYR1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in RIT1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | RAPSN | Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in RAPSN from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | PTPN11 | Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PMID:30266093: AD/de novo mosaic variant and AD/de novo het variant identified in PTPN11 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | PKD1L1 | Rebecca Foulger edited their review of gene: PKD1L1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in PKD1L1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | PEX1 | Rebecca Foulger edited their review of gene: PEX1: Added comment: Additional evidence from PMID:30266093: AR/comound het variant identified in PEX1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | P3H1 | Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in P3H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | NIPBL | Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in NIPBL from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | MYH3 | Rebecca Foulger edited their review of gene: MYH3: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in MYH3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | MID1 | Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PMID:30266093: XL/hemizyogus (inherited from mildly affected mother) variant identified in MID1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | LAMC3 | Rebecca Foulger edited their review of gene: LAMC3: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in LAMC3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | KRAS | Rebecca Foulger edited their review of gene: KRAS: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in KRAS from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | KMT2D | Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30266093: AD/de novo het, and AD/het variants identified in KMT2D from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | IFT80 | Rebecca Foulger edited their review of gene: IFT80: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in IFT80 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | GLI3 | Rebecca Foulger edited their review of gene: GLI3: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in GLI3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | FBN1 | Rebecca Foulger edited their review of gene: FBN1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in FBN1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | DYNC2H1 | Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in DYNC2H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | DVL1 | Rebecca Foulger edited their review of gene: DVL1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in DVL1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in COL4A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A2 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | COL1A1 | Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | COL11A1 | Rebecca Foulger edited their review of gene: COL11A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL11A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | CHRNG | Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in CHRNG from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in C5orf42 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | AR | Rebecca Foulger edited their review of gene: AR: Added comment: Additional evidence from PMID:30266093: XL/hemizygous (maternally inherited) variant identified in AR from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | ALG12 | Rebecca Foulger edited their review of gene: ALG12: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in ALG12 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.185 | ADGRG6 | Rebecca Foulger edited their review of gene: ADGRG6: Added comment: Additional evidence from PMID:30266093: AR/homozygous het variant identified in ADGRG6 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | IFITM5 | Rebecca Foulger edited their review of gene: IFITM5: Added comment: Additional evidence from PMID:29595812: De novovariant identified in IFITM5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | COL1A1 | Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:29595812:Variants identified in COL1A1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). In one case, the variant is reported as a paternally-inherited VUS where no molecular diagnosis was made. In three cases the variants were De novo.; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | GDF5 | Rebecca Foulger edited their review of gene: GDF5: Added comment: Additional evidence from PMID:29595812:Maternally-inherited variant (VUS) identified in GDF5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis made.; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PMID:29595812:AR maternal variant identified in RECQL4 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis confirmed- single mutation in AR/recessive gene, suggestive of Baller-Gerold syndrome.; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | FGFR3 | Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:29595812:De novo variant identified in FGFR3 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | EBP | Rebecca Foulger edited their review of gene: EBP: Added comment: Additional evidence from PMID:29595812:De novo variant identified in EBP from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | WDR34 | Rebecca Foulger edited their review of gene: WDR34: Added comment: Additional evidence from PMID:29595812:AR variant identified in WDR34 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | RBM8A | Rebecca Foulger edited their review of gene: RBM8A: Added comment: Additional evidence from PMID:29595812:AR variant identified in RBM8A from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | P3H1 | Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:29595812:AR Bi-parental-inherited variant identified in P3H1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | OBSL1 | Rebecca Foulger edited their review of gene: OBSL1: Added comment: Additional evidence from PMID:29595812:AR Biparental-inherited variant identified in OBSL1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in COL1A2 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.184 | ALPL | Rebecca Foulger edited their review of gene: ALPL: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in ALPL from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | CHRNG | Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous/Compound heterozygous variants identified in CHRNG from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | RAPSN | Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAPSN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | RAB23 | Rebecca Foulger edited their review of gene: RAB23: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAB23 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | EVC2 | Rebecca Foulger edited their review of gene: EVC2: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in EVC2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | DNAH11 | Rebecca Foulger edited their review of gene: DNAH11: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in DNAH11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | CCDC103 | Rebecca Foulger edited their review of gene: CCDC103: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in CCDC103 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | B3GLCT | Rebecca Foulger edited their review of gene: B3GLCT: Added comment: Additional evidence from PAGE study: Diagnostic Homozgyous variant identified in B3GLCT from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in RIT1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | PTPN11 | Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in PTPN11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | KMT2D | Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in KMT2D from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | FGFR3 | Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in FGFR3 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | CHD7 | Rebecca Foulger edited their review of gene: CHD7: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in CHD7 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | ZC4H2 | Rebecca Foulger edited their review of gene: ZC4H2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ZC4H2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | TUBB | Rebecca Foulger edited their review of gene: TUBB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TUBB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | TFAP2A | Rebecca Foulger edited their review of gene: TFAP2A: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TFAP2A from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | TAB2 | Rebecca Foulger edited their review of gene: TAB2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TAB2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | SOX9 | Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOX9 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | SOS1 | Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOS1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | SF3B4 | Rebecca Foulger edited their review of gene: SF3B4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SF3B4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | PIK3CA | Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in PIK3CA from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | NRAS | Rebecca Foulger edited their review of gene: NRAS: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NRAS from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | NR2F2 | Rebecca Foulger edited their review of gene: NR2F2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NR2F2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | NIPBL | Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NIPBL from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | NALCN | Rebecca Foulger edited their review of gene: NALCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NALCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | MYCN | Rebecca Foulger edited their review of gene: MYCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in MYCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | GATA4 | Rebecca Foulger edited their review of gene: GATA4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in GATA4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | FLNB | Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in FLNB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | EPHB4 | Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in EPHB4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | CDKN1C | Rebecca Foulger edited their review of gene: CDKN1C: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in CDKN1C from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | BRAF | Rebecca Foulger edited their review of gene: BRAF: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in BRAF from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | ARCN1 | Rebecca Foulger edited their review of gene: ARCN1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ARCN1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | ANKRD11 | Rebecca Foulger edited their review of gene: ANKRD11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ANKRD11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | COL1A1 | Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous varianst identified in COL1A1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | MID1 | Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PAGE study: Diagnostic Hemizygous variant identified in MID1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | RYR1 | Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in RYR1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | PIEZO1 | Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in PIEZO1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | DYNC2H1 | Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in DYNC2H1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | ACTB | Rebecca Foulger edited their review of gene: ACTB: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | KMT2A | Rebecca Foulger edited their review of gene: KMT2A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | KIAA0586 | Rebecca Foulger edited their review of gene: KIAA0586: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | ATRX | Rebecca Foulger edited their review of gene: ATRX: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | MBTPS2 | Rebecca Foulger edited their review of gene: MBTPS2: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | NSD1 | Rebecca Foulger edited their review of gene: NSD1: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.183 | TUBA1A | Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.181 | RAC1 | Rebecca Foulger commented on gene: RAC1: Additional evidence from PMID:30712878: De novo variant identified in RAC1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.180 | SCN2A | Rebecca Foulger commented on gene: SCN2A: Additional evidence from PMID:30712878: De novo variant identified in SCN2A from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.179 | HCCS | Rebecca Foulger commented on gene: HCCS: Additional evidence from PMID:30266093: XL/de novo het variant identified in HCCS from fetal exome sequencing in Normand et al., 2018 (PMID:30266093). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.178 | DDX3X | Rebecca Foulger commented on gene: DDX3X: Additional evidence from PMID:30266093: XL, de novo het variant identified in DDX3X from fetal exome sequencing in Normand et al., 2018 (PMID:30266093). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.177 | ACTA1 | Rebecca Foulger commented on gene: ACTA1: Additional evidence from PMID:30266093: AD/de novo het variant identified in ACTA1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.176 | GBA | Rebecca Foulger commented on gene: GBA: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.175 | TCTN2 | Rebecca Foulger commented on gene: TCTN2: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in TCTN2 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.174 | COQ9 | Rebecca Foulger commented on gene: COQ9: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in COQ9 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.173 | BCS1L | Rebecca Foulger commented on gene: BCS1L: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.172 | PROK2 | Rebecca Foulger commented on gene: PROK2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.171 | PACS1 | Rebecca Foulger commented on gene: PACS1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.170 | ROBO1 | Rebecca Foulger commented on gene: ROBO1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.169 | MECP2 | Rebecca Foulger commented on gene: MECP2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.168 | KCNQ2 | Rebecca Foulger commented on gene: KCNQ2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.167 | HYDIN | Rebecca Foulger commented on gene: HYDIN: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | UMPS | Rebecca Foulger edited their review of gene: UMPS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | SLC35C1 | Rebecca Foulger edited their review of gene: SLC35C1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | SLC2A1 | Rebecca Foulger edited their review of gene: SLC2A1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | SLC25A20 | Rebecca Foulger edited their review of gene: SLC25A20: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | PPT1 | Rebecca Foulger edited their review of gene: PPT1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Microcephaly phenotype presents postnatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | QDPR | Rebecca Foulger edited their review of gene: QDPR: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Although not explicitly stated, microcephaly is implied to be progressive. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | DLAT | Rebecca Foulger edited their review of gene: DLAT: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Present early but microcephaly is acquired. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TPP1 | Rebecca Foulger edited their review of gene: TPP1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably won't present prenatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TMEM165 | Rebecca Foulger edited their review of gene: TMEM165: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: OMIM phenotypes include growth retardation, and most had short stature. Other features included dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | PTS | Rebecca Foulger edited their review of gene: PTS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | AUH | Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | ASS1 | Rebecca Foulger edited their review of gene: ASS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | SAMHD1 | Rebecca Foulger edited their review of gene: SAMHD1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | PSAP | Rebecca Foulger edited their review of gene: PSAP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | ARSA | Rebecca Foulger edited their review of gene: ARSA: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause leukodystrophy.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | EMD | Rebecca Foulger edited their review of gene: EMD: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN; Changed publications: 26247046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | SMN1 | Rebecca Foulger edited their review of gene: SMN1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TCN2 | Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | PHOX2B | Rebecca Foulger edited their review of gene: PHOX2B: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hirschsprung disease would present in infancy.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TRAPPC2 | Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | IQSEC2 | Rebecca Foulger edited their review of gene: IQSEC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | HYDIN | Rebecca Foulger edited their review of gene: HYDIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in HYDIN cause PCD without laterality defects/Situs Invertis. Variant flagged as Potentially Clinically Useful from PAGE study. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | LAMP2 | Rebecca Foulger edited their review of gene: LAMP2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Diagnosis is in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | PPA2 | Rebecca Foulger edited their review of gene: PPA2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not morphological. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | DSP | Rebecca Foulger edited their review of gene: DSP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because tooth agenesis can be detected prenatally.; Changed rating: GREEN; Changed publications: 30993396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | GAS8 | Rebecca Foulger edited their review of gene: GAS8: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), GAS8 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in GAS8 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | CCDC65 | Rebecca Foulger edited their review of gene: CCDC65: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), CCDC65 (DRC2) has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in CCDC65/DRC2 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | CCNO | Rebecca Foulger edited their review of gene: CCNO: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in CCNO cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | RSPH3 | Rebecca Foulger edited their review of gene: RSPH3: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019), RSPH3 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that there is fairly firm evidence that mutations in RSPH3 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | RSPH1 | Rebecca Foulger edited their review of gene: RSPH1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in RSPH1 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TBXAS1 | Rebecca Foulger edited their review of gene: TBXAS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Storage disorder. Progressive phenotype that presents later in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | AGPAT2 | Rebecca Foulger edited their review of gene: AGPAT2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. No obvious pre-natal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 22902344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | OTULIN | Rebecca Foulger edited their review of gene: OTULIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. Early treatment could be helpful but no obvious detectable prenatal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLX4 | Rebecca Foulger commented on gene: SLX4: Sufficient unrelated cases in OMIM supporting a link between SLX4 variants and Fanconi anaemia, including a Dutch boy and 3 German siblings from PMID:21240277, and a 15 year old Indian girl and a 22 year old male from PMID:21240275- the compound het variants in the 22 yr old male included a large genomic deletion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZC4H2 | Rebecca Foulger edited their review of gene: ZC4H2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SAMD9 | Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Note that MOI for AD may be GOF and associated AR condition is not fetally relevant.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC10A7 | Rebecca Foulger edited their review of gene: SLC10A7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRAF7 | Rebecca Foulger edited their review of gene: TRAF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC52A2 | Rebecca Foulger edited their review of gene: SLC52A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STAG2 | Rebecca Foulger edited their review of gene: STAG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UFC1 | Rebecca Foulger edited their review of gene: UFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRIP4 | Rebecca Foulger commented on gene: TRIP4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TPM2 | Rebecca Foulger edited their review of gene: TPM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX18 | Rebecca Foulger commented on gene: TBX18: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | RBPJ | Rebecca Foulger commented on gene: RBPJ: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | NOTCH1 | Rebecca Foulger commented on gene: NOTCH1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | LGI4 | Rebecca Foulger commented on gene: LGI4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | GLDN | Rebecca Foulger commented on gene: GLDN: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | EPHB4 | Rebecca Foulger commented on gene: EPHB4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | DOCK6 | Rebecca Foulger commented on gene: DOCK6: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | CNTNAP1 | Rebecca Foulger commented on gene: CNTNAP1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | CHRNA1 | Rebecca Foulger edited their review of gene: CHRNA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | CFC1 | Rebecca Foulger edited their review of gene: CFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ARHGAP31 | Rebecca Foulger commented on gene: ARHGAP31: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ARCN1 | Rebecca Foulger edited their review of gene: ARCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | AKT3 | Rebecca Foulger commented on gene: AKT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TWIST2 | Rebecca Foulger edited their review of gene: TWIST2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TCTN1 | Rebecca Foulger edited their review of gene: TCTN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBC1D20 | Rebecca Foulger edited their review of gene: TBC1D20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | MAGEL2 | Rebecca Foulger edited their review of gene: MAGEL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | KMT2C | Rebecca Foulger edited their review of gene: KMT2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | IL11RA | Rebecca Foulger edited their review of gene: IL11RA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | IFIH1 | Rebecca Foulger edited their review of gene: IFIH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Change mode of inheritance back to monoallelic because both these conditions are AD inheritance- previous change to biallelic was most likely a misunderstanding.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ERCC4 | Rebecca Foulger edited their review of gene: ERCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | DNAH5 | Rebecca Foulger edited their review of gene: DNAH5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ATAD3A | Rebecca Foulger edited their review of gene: ATAD3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | PIEZO1 | Rebecca Foulger edited their review of gene: PIEZO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ACTB | Rebecca Foulger edited their review of gene: ACTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | KYNU | Rebecca Foulger edited their review of gene: KYNU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | HAAO | Rebecca Foulger edited their review of gene: HAAO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZNF711 | Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZMPSTE24 | Rebecca Foulger edited their review of gene: ZMPSTE24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZIC3 | Rebecca Foulger edited their review of gene: ZIC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZIC2 | Rebecca Foulger edited their review of gene: ZIC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZIC1 | Rebecca Foulger edited their review of gene: ZIC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZFYVE26 | Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZEB2 | Rebecca Foulger edited their review of gene: ZEB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZDHHC9 | Rebecca Foulger edited their review of gene: ZDHHC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ZDHHC9 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZBTB20 | Rebecca Foulger edited their review of gene: ZBTB20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZBTB18 | Rebecca Foulger edited their review of gene: ZBTB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | YY1 | Rebecca Foulger edited their review of gene: YY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotype is a bit non-specific, but various structural phenotypes have been reported.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | XYLT1 | Rebecca Foulger edited their review of gene: XYLT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | XRCC4 | Rebecca Foulger edited their review of gene: XRCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | XPC | Rebecca Foulger edited their review of gene: XPC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | XPA | Rebecca Foulger edited their review of gene: XPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WT1 | Rebecca Foulger edited their review of gene: WT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WNT7A | Rebecca Foulger edited their review of gene: WNT7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WNT5A | Rebecca Foulger edited their review of gene: WNT5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WNT10B | Rebecca Foulger edited their review of gene: WNT10B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WNT1 | Rebecca Foulger edited their review of gene: WNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR62 | Rebecca Foulger edited their review of gene: WDR62: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR60 | Rebecca Foulger edited their review of gene: WDR60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR45 | Rebecca Foulger edited their review of gene: WDR45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Iron deposition, doesn't seem to present prenatally. Action taken: Demoted WDR45 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR35 | Rebecca Foulger edited their review of gene: WDR35: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR34 | Rebecca Foulger edited their review of gene: WDR34: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR26 | Rebecca Foulger edited their review of gene: WDR26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various structural brain malformations.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDR11 | Rebecca Foulger edited their review of gene: WDR11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WDR11 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | WDPCP | Rebecca Foulger edited their review of gene: WDPCP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | VSX2 | Rebecca Foulger edited their review of gene: VSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | VPS33B | Rebecca Foulger edited their review of gene: VPS33B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | VLDLR | Rebecca Foulger edited their review of gene: VLDLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | VIPAS39 | Rebecca Foulger edited their review of gene: VIPAS39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UVSSA | Rebecca Foulger edited their review of gene: UVSSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UVSSA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UROS | Rebecca Foulger edited their review of gene: UROS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UROC1 | Rebecca Foulger edited their review of gene: UROC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UNC80 | Rebecca Foulger edited their review of gene: UNC80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UGT1A1 | Rebecca Foulger edited their review of gene: UGT1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UGT1A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UBR1 | Rebecca Foulger edited their review of gene: UBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UBE3B | Rebecca Foulger edited their review of gene: UBE3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | UBE3A | Rebecca Foulger edited their review of gene: UBE3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE3A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TYRP1 | Rebecca Foulger edited their review of gene: TYRP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYRP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TYR | Rebecca Foulger edited their review of gene: TYR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TXNL4A | Rebecca Foulger edited their review of gene: TXNL4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TWIST1 | Rebecca Foulger edited their review of gene: TWIST1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUSC3 | Rebecca Foulger edited their review of gene: TUSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUSC3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUBGCP6 | Rebecca Foulger edited their review of gene: TUBGCP6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUBB2B | Rebecca Foulger edited their review of gene: TUBB2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUBB | Rebecca Foulger edited their review of gene: TUBB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUBA8 | Rebecca Foulger edited their review of gene: TUBA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TUBA1A | Rebecca Foulger edited their review of gene: TUBA1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TTC8 | Rebecca Foulger edited their review of gene: TTC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TTC7A | Rebecca Foulger edited their review of gene: TTC7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TTC37 | Rebecca Foulger edited their review of gene: TTC37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TSPAN7 | Rebecca Foulger edited their review of gene: TSPAN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSPAN7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TSHR | Rebecca Foulger edited their review of gene: TSHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TSEN54 | Rebecca Foulger edited their review of gene: TSEN54: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TSC2 | Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TSC1 | Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRPS1 | Rebecca Foulger edited their review of gene: TRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRPM1 | Rebecca Foulger edited their review of gene: TRPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TRPM1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRIP11 | Rebecca Foulger edited their review of gene: TRIP11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TRIM37 | Rebecca Foulger edited their review of gene: TRIM37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TREX1 | Rebecca Foulger edited their review of gene: TREX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TP63 | Rebecca Foulger edited their review of gene: TP63: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TMPRSS6 | Rebecca Foulger edited their review of gene: TMPRSS6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TMPRSS6 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TMEM5 | Rebecca Foulger edited their review of gene: TMEM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TMEM237 | Rebecca Foulger edited their review of gene: TMEM237: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TINF2 | Rebecca Foulger edited their review of gene: TINF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: CNS features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | THRA | Rebecca Foulger edited their review of gene: THRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | THOC6 | Rebecca Foulger edited their review of gene: THOC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TH | Rebecca Foulger edited their review of gene: TH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TGDS | Rebecca Foulger edited their review of gene: TGDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TFAP2A | Rebecca Foulger edited their review of gene: TFAP2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TCTN3 | Rebecca Foulger edited their review of gene: TCTN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TCOF1 | Rebecca Foulger edited their review of gene: TCOF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TCF4 | Rebecca Foulger edited their review of gene: TCF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TCF12 | Rebecca Foulger edited their review of gene: TCF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX5 | Rebecca Foulger edited their review of gene: TBX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX4 | Rebecca Foulger edited their review of gene: TBX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX3 | Rebecca Foulger edited their review of gene: TBX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX20 | Rebecca Foulger edited their review of gene: TBX20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX15 | Rebecca Foulger edited their review of gene: TBX15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBX1 | Rebecca Foulger edited their review of gene: TBX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBCK | Rebecca Foulger edited their review of gene: TBCK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBC1D24 | Rebecca Foulger edited their review of gene: TBC1D24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TBC1D23 | Rebecca Foulger edited their review of gene: TBC1D23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TAZ | Rebecca Foulger edited their review of gene: TAZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TAT | Rebecca Foulger edited their review of gene: TAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TAT gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | TAB2 | Rebecca Foulger edited their review of gene: TAB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SYP | Rebecca Foulger edited their review of gene: SYP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYP gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SYNGAP1 | Rebecca Foulger edited their review of gene: SYNGAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYNGAP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SUCLG1 | Rebecca Foulger edited their review of gene: SUCLG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Has presented prenatally (PMID:21093335); Changed rating: GREEN; Changed publications: 21093335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STXBP1 | Rebecca Foulger edited their review of gene: STXBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STXBP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STS | Rebecca Foulger edited their review of gene: STS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Cutaneous patches only. Action taken: Demoted STS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STRA6 | Rebecca Foulger edited their review of gene: STRA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STAR | Rebecca Foulger edited their review of gene: STAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STAMBP | Rebecca Foulger edited their review of gene: STAMBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | STAG1 | Rebecca Foulger edited their review of gene: STAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SRY | Rebecca Foulger edited their review of gene: SRY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SRD5A3 | Rebecca Foulger edited their review of gene: SRD5A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SRCAP | Rebecca Foulger edited their review of gene: SRCAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SPEG | Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SPAG1 | Rebecca Foulger edited their review of gene: SPAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SOX3 | Rebecca Foulger edited their review of gene: SOX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Structural pitiutary abnormalities reported.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SOX2 | Rebecca Foulger edited their review of gene: SOX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SOX17 | Rebecca Foulger edited their review of gene: SOX17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SOS1 | Rebecca Foulger edited their review of gene: SOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SON | Rebecca Foulger edited their review of gene: SON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SNX14 | Rebecca Foulger edited their review of gene: SNX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SNRPB | Rebecca Foulger edited their review of gene: SNRPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMPD1 | Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMPD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMOC1 | Rebecca Foulger edited their review of gene: SMOC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMC3 | Rebecca Foulger edited their review of gene: SMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMC1A | Rebecca Foulger edited their review of gene: SMC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMARCB1 | Rebecca Foulger edited their review of gene: SMARCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SMARCA4 | Rebecca Foulger edited their review of gene: SMARCA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLX4 | Rebecca Foulger edited their review of gene: SLX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: yes providing sufficient evidence.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC6A5 | Rebecca Foulger edited their review of gene: SLC6A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC6A3 | Rebecca Foulger edited their review of gene: SLC6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC6A1 | Rebecca Foulger edited their review of gene: SLC6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC5A5 | Rebecca Foulger edited their review of gene: SLC5A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC5A5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC52A3 | Rebecca Foulger edited their review of gene: SLC52A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC46A1 | Rebecca Foulger edited their review of gene: SLC46A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC46A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC35D1 | Rebecca Foulger edited their review of gene: SLC35D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC33A1 | Rebecca Foulger edited their review of gene: SLC33A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC2A2 | Rebecca Foulger edited their review of gene: SLC2A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC2A2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC27A4 | Rebecca Foulger edited their review of gene: SLC27A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC26A2 | Rebecca Foulger edited their review of gene: SLC26A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC25A24 | Rebecca Foulger edited their review of gene: SLC25A24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC25A15 | Rebecca Foulger edited their review of gene: SLC25A15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A15 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC22A5 | Rebecca Foulger edited their review of gene: SLC22A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC22A5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC19A3 | Rebecca Foulger edited their review of gene: SLC19A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC19A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC17A5 | Rebecca Foulger edited their review of gene: SLC17A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Hydrops in infantile form.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC16A2 | Rebecca Foulger edited their review of gene: SLC16A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SLC13A5 | Rebecca Foulger edited their review of gene: SLC13A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SKI | Rebecca Foulger edited their review of gene: SKI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SIX5 | Rebecca Foulger edited their review of gene: SIX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SIX3 | Rebecca Foulger edited their review of gene: SIX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SIL1 | Rebecca Foulger edited their review of gene: SIL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SIK1 | Rebecca Foulger edited their review of gene: SIK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIK1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SHOX | Rebecca Foulger edited their review of gene: SHOX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SHOC2 | Rebecca Foulger edited their review of gene: SHOC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SHH | Rebecca Foulger edited their review of gene: SHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SH3PXD2B | Rebecca Foulger edited their review of gene: SH3PXD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SF3B4 | Rebecca Foulger edited their review of gene: SF3B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SETBP1 | Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SEC23B | Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SDCCAG8 | Rebecca Foulger edited their review of gene: SDCCAG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCN8A | Rebecca Foulger edited their review of gene: SCN8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN8A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCN2A | Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN2A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCN1B | Rebecca Foulger edited their review of gene: SCN1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCN1A | Rebecca Foulger edited their review of gene: SCN1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCN11A | Rebecca Foulger edited their review of gene: SCN11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN11A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SCARF2 | Rebecca Foulger edited their review of gene: SCARF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SC5D | Rebecca Foulger edited their review of gene: SC5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SATB2 | Rebecca Foulger edited their review of gene: SATB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SALL4 | Rebecca Foulger edited their review of gene: SALL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SALL1 | Rebecca Foulger edited their review of gene: SALL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | RYR1 | Rebecca Foulger edited their review of gene: RYR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.158 | TBX22 | Rebecca Foulger Added comment: Comment on phenotypes: Added '?Abruzzo-Erickson syndrome, 302905' based on OMIM and clinical review that Abruzzo-Erickson syndrome phenotype is clinically relevant. Kept the question-mark because evidence for this gene:disease association is limited (1 family reported in Pauws et al., 2013 (PMID:22784330). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.157 | SAMD9 | Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of inheritance as 'monoallelic' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the associated AR condition (Tumoral calcinosis, familial, normophosphatemic, MIM:610455) is not fetally relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.156 | SAMD9 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed the Mode of Pathogenicity to 'Other' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the AD inheritance may be gain-of-function. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.155 | IFIH1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI back to 'monoallelic' following review by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019: both associated disorders (Aicardi-Goutieres syndrome 7 and 'Singleton-Merten syndrome 1) have monoallelic inheritance. The original switch to biallelic inheritance was probably due to a misunderstanding. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.154 | RARS2 | Rebecca Foulger Publications for gene RARS2 were changed from to 26083569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RNU4ATAC | Rebecca Foulger edited their review of gene: RNU4ATAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RNASET2 | Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RMRP | Rebecca Foulger edited their review of gene: RMRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Rhizomelic limb shortening.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RFX6 | Rebecca Foulger edited their review of gene: RFX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RETREG1 | Rebecca Foulger edited their review of gene: RETREG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted RETREG1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RERE | Rebecca Foulger edited their review of gene: RERE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RELN | Rebecca Foulger edited their review of gene: RELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RECQL4 | Rebecca Foulger edited their review of gene: RECQL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RBM8A | Rebecca Foulger edited their review of gene: RBM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAX | Rebecca Foulger edited their review of gene: RAX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RASA1 | Rebecca Foulger edited their review of gene: RASA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RARS2 | Rebecca Foulger edited their review of gene: RARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 26083569 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RARB | Rebecca Foulger edited their review of gene: RARB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAI1 | Rebecca Foulger edited their review of gene: RAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAF1 | Rebecca Foulger edited their review of gene: RAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAD21 | Rebecca Foulger edited their review of gene: RAD21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Also one family reported with biallelic inheritance, Mungan syndrome (MIM:611376).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAB3GAP2 | Rebecca Foulger edited their review of gene: RAB3GAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAB3GAP1 | Rebecca Foulger edited their review of gene: RAB3GAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAB23 | Rebecca Foulger edited their review of gene: RAB23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RAB18 | Rebecca Foulger edited their review of gene: RAB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | QRICH1 | Rebecca Foulger edited their review of gene: QRICH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Only 5 cases reported so far so phenotype is not that well-characterised yet. Some dysmorphic features may be detectable prenatally- one case had IUGR, and another had severe microcephaly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PYGL | Rebecca Foulger edited their review of gene: PYGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PYGL gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PYCR1 | Rebecca Foulger edited their review of gene: PYCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: An unpublished case presented with IUGR, Microcephaly, hydronephrosis, echogenic kidney, hypoplastic nasal bone. Long bones short and bowed, ambigious genitalia, megalourethra, thickened bladder wall. OMIM phenotypes include IUGR, microcephaly, long bone bowing and agenesis of the corpus callosum (ACC).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PURA | Rebecca Foulger edited their review of gene: PURA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PUF60 | Rebecca Foulger edited their review of gene: PUF60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PTH1R | Rebecca Foulger edited their review of gene: PTH1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PTF1A | Rebecca Foulger edited their review of gene: PTF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PTDSS1 | Rebecca Foulger edited their review of gene: PTDSS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PTCHD1 | Rebecca Foulger edited their review of gene: PTCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PTCHD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PTCH1 | Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PSPH | Rebecca Foulger edited their review of gene: PSPH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Neu-Laxova syndrome would present prenatally, but probably not the milder Phosphoserine phosphatase deficiency.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PRDM12 | Rebecca Foulger edited their review of gene: PRDM12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRDM12 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PQBP1 | Rebecca Foulger edited their review of gene: PQBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PPP2R5D | Rebecca Foulger edited their review of gene: PPP2R5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Could present as ventriculomegaly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PPP2R1A | Rebecca Foulger edited their review of gene: PPP2R1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PPP1CB | Rebecca Foulger edited their review of gene: PPP1CB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | POU1F1 | Rebecca Foulger edited their review of gene: POU1F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PORCN | Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PGAP2 | Rebecca Foulger edited their review of gene: PGAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX7 | Rebecca Foulger edited their review of gene: PEX7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX6 | Rebecca Foulger edited their review of gene: PEX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX5 | Rebecca Foulger edited their review of gene: PEX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX3 | Rebecca Foulger edited their review of gene: PEX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX26 | Rebecca Foulger edited their review of gene: PEX26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX2 | Rebecca Foulger edited their review of gene: PEX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX19 | Rebecca Foulger edited their review of gene: PEX19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX16 | Rebecca Foulger edited their review of gene: PEX16: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX13 | Rebecca Foulger edited their review of gene: PEX13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX11B | Rebecca Foulger edited their review of gene: PEX11B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PEX10 | Rebecca Foulger edited their review of gene: PEX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PDGFRB | Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PDE6G | Rebecca Foulger edited their review of gene: PDE6G: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PDE6G gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PDE4D | Rebecca Foulger edited their review of gene: PDE4D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Midface hypoplasia and severe brachydactyly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCYT1A | Rebecca Foulger edited their review of gene: PCYT1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCNT | Rebecca Foulger edited their review of gene: PCNT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCDH19 | Rebecca Foulger edited their review of gene: PCDH19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PCDH19 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCCB | Rebecca Foulger edited their review of gene: PCCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCCA | Rebecca Foulger edited their review of gene: PCCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PCBD1 | Rebecca Foulger edited their review of gene: PCBD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PCBD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAX9 | Rebecca Foulger edited their review of gene: PAX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX9 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAX3 | Rebecca Foulger edited their review of gene: PAX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAX2 | Rebecca Foulger edited their review of gene: PAX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PARN | Rebecca Foulger edited their review of gene: PARN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cerebellar hypoplasia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAPSS2 | Rebecca Foulger edited their review of gene: PAPSS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PALB2 | Rebecca Foulger edited their review of gene: PALB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAK3 | Rebecca Foulger edited their review of gene: PAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 24556213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAH | Rebecca Foulger edited their review of gene: PAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural abnormalities. Action taken: Demoted PAH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAFAH1B1 | Rebecca Foulger edited their review of gene: PAFAH1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | P3H1 | Rebecca Foulger edited their review of gene: P3H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OXCT1 | Rebecca Foulger edited their review of gene: OXCT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is ketoacidosis, nothing structural. Action taken: Demoted OXCT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OTX2 | Rebecca Foulger edited their review of gene: OTX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OTOGL | Rebecca Foulger edited their review of gene: OTOGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes aren't structural (Nonsyndromic sensorineural deafness). Action taken: Demoted OTOGL gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OTC | Rebecca Foulger edited their review of gene: OTC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural- entirely metabolic and only presents when feeding begins. Action taken: Demoted OTC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | ORC6 | Rebecca Foulger edited their review of gene: ORC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | ORC4 | Rebecca Foulger edited their review of gene: ORC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | ORC1 | Rebecca Foulger edited their review of gene: ORC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OPHN1 | Rebecca Foulger edited their review of gene: OPHN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OCRL | Rebecca Foulger edited their review of gene: OCRL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | OBSL1 | Rebecca Foulger edited their review of gene: OBSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.152 | COL6A2 | Rebecca Foulger commented on gene: COL6A2: COL6A2 was added to the panel from the Additional PAGE list, where it is listed with both monoallelic and biallelic inheritance and Confirmed DD-G2P ratings for both. In OMIM, inheritance is listed as 'AR and AD' for both 'Bethlem myopathy 1, 158810' and 'Ullrich congenital muscular dystrophy 1, 254090' | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RUNX2 | Rebecca Foulger edited their review of gene: RUNX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RTN4IP1 | Rebecca Foulger edited their review of gene: RTN4IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RTN4IP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RTEL1 | Rebecca Foulger edited their review of gene: RTEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RSPO4 | Rebecca Foulger edited their review of gene: RSPO4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RSPO4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RPS6KA3 | Rebecca Foulger edited their review of gene: RPS6KA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RPS19 | Rebecca Foulger edited their review of gene: RPS19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | RPGRIP1L | Rebecca Foulger edited their review of gene: RPGRIP1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | ROR2 | Rebecca Foulger edited their review of gene: ROR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Leave inheritance as both monoallelic and biallelic.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PSMB8 | Rebecca Foulger edited their review of gene: PSMB8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PSMB8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRSS56 | Rebecca Foulger edited their review of gene: PRSS56: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRSS12 | Rebecca Foulger edited their review of gene: PRSS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRSS12 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRRT2 | Rebecca Foulger edited their review of gene: PRRT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural. Action taken: Demoted PRRT2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRPS1 | Rebecca Foulger edited their review of gene: PRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PROP1 | Rebecca Foulger edited their review of gene: PROP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PROP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRKD1 | Rebecca Foulger edited their review of gene: PRKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PRKAR1A | Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Would also explain Myxoma, intracardiac (MIM:255960).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POMT2 | Rebecca Foulger edited their review of gene: POMT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POMT1 | Rebecca Foulger edited their review of gene: POMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POMGNT2 | Rebecca Foulger edited their review of gene: POMGNT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POMGNT1 | Rebecca Foulger edited their review of gene: POMGNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POLR3A | Rebecca Foulger edited their review of gene: POLR3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POLR1D | Rebecca Foulger edited their review of gene: POLR1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POLR1C | Rebecca Foulger edited their review of gene: POLR1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POC1B | Rebecca Foulger edited their review of gene: POC1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted POC1B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | POC1A | Rebecca Foulger edited their review of gene: POC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PMS2 | Rebecca Foulger edited their review of gene: PMS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Associated with Lynch syndrome, which confers an increased risk of cancers, particularly colorectal cancer. Action taken: Demoted PMS2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PMM2 | Rebecca Foulger edited their review of gene: PMM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PLOD2 | Rebecca Foulger edited their review of gene: PLOD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PLOD1 | Rebecca Foulger edited their review of gene: PLOD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PLK4 | Rebecca Foulger edited their review of gene: PLK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PKHD1 | Rebecca Foulger edited their review of gene: PKHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PKD1L1 | Rebecca Foulger edited their review of gene: PKD1L1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PITX3 | Rebecca Foulger edited their review of gene: PITX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PITX2 | Rebecca Foulger edited their review of gene: PITX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIK3R1 | Rebecca Foulger edited their review of gene: PIK3R1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIGV | Rebecca Foulger edited their review of gene: PIGV: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIGT | Rebecca Foulger edited their review of gene: PIGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIGO | Rebecca Foulger edited their review of gene: PIGO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIGL | Rebecca Foulger edited their review of gene: PIGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIGA | Rebecca Foulger edited their review of gene: PIGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PIEZO2 | Rebecca Foulger edited their review of gene: PIEZO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PHGDH | Rebecca Foulger edited their review of gene: PHGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PHF8 | Rebecca Foulger edited their review of gene: PHF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PHF6 | Rebecca Foulger edited their review of gene: PHF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PGM1 | Rebecca Foulger edited their review of gene: PGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.150 | PGAP3 | Rebecca Foulger edited their review of gene: PGAP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cleft in some patients.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.149 | ROR2 | Rebecca Foulger commented on gene: ROR2: In the original PAGE file, Mode of Inheritance is recorded as Biallelic for 'ROR2-RELATED DISORDERS AR', and Monoallelic for 'BRACHYDACTYLY, TYPE B1' and 'ROBINOW SYNDROME, AUTOSOMAL DOMINANT'. All three disorders have 'Confirmed' gene:disease associations with 'Loss of function' mode-of-pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.149 | KARS |
Rebecca Foulger Source Expert Review Red was added to KARS. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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Fetal anomalies v0.149 | AR |
Rebecca Foulger Source Expert Review Green was added to AR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v0.148 | TIMM8A | Rebecca Foulger edited their review of gene: TIMM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted TIMM8A gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | THAP1 | Rebecca Foulger edited their review of gene: THAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SYNE1 | Rebecca Foulger edited their review of gene: SYNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SPTLC2 | Rebecca Foulger edited their review of gene: SPTLC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SMCHD1 | Rebecca Foulger edited their review of gene: SMCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMCHD1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SMAD4 | Rebecca Foulger edited their review of gene: SMAD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMAD4 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SLC4A11 | Rebecca Foulger edited their review of gene: SLC4A11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A11 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | SLC4A1 | Rebecca Foulger edited their review of gene: SLC4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | POLD1 | Rebecca Foulger edited their review of gene: POLD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Does not seem to have evidence for prenatal presentation, and risk of cancer predisposition as an incidental finding. Action taken: Demoted POLD1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | PDCD10 | Rebecca Foulger edited their review of gene: PDCD10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted PDCD10 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | NR5A1 | Rebecca Foulger edited their review of gene: NR5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted NR5A1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | MYO7A | Rebecca Foulger edited their review of gene: MYO7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | MYH8 | Rebecca Foulger edited their review of gene: MYH8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | LMNA | Rebecca Foulger edited their review of gene: LMNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | KRIT1 | Rebecca Foulger edited their review of gene: KRIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.; Changed rating: GREEN; Changed publications: 28749478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | KIT | Rebecca Foulger edited their review of gene: KIT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | KCNE1 | Rebecca Foulger edited their review of gene: KCNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KCNE1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | KARS | Rebecca Foulger edited their review of gene: KARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | FAM161A | Rebecca Foulger edited their review of gene: FAM161A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted FAM161A gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | COL4A2 | Rebecca Foulger edited their review of gene: COL4A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A2 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | COL4A1 | Rebecca Foulger edited their review of gene: COL4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | CLN6 | Rebecca Foulger edited their review of gene: CLN6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CLN6 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | CISD2 | Rebecca Foulger edited their review of gene: CISD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CISD2 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | CDH1 | Rebecca Foulger edited their review of gene: CDH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Obvious structural phenotype. Action taken: Promoted CDH1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | BRCA1 | Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | ATP1A3 | Rebecca Foulger edited their review of gene: ATP1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ATP1A3 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | AR | Rebecca Foulger edited their review of gene: AR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. STRs are NOT to be reported. Action taken: Promoted AR gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | ALDOB | Rebecca Foulger edited their review of gene: ALDOB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | AIRE | Rebecca Foulger edited their review of gene: AIRE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted AIRE gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | AGXT | Rebecca Foulger edited their review of gene: AGXT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted AGXT gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | ACTA2 | Rebecca Foulger edited their review of gene: ACTA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | ACADS | Rebecca Foulger edited their review of gene: ACADS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted ACADS gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.148 | AMER1 | Rebecca Foulger edited their review of gene: AMER1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.145 | GJB2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, inheritance was listed as biallelic for 'DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A' and monoallelic for 'PALMOPLANTAR KERATODERMA WITH DEAFNESS', 'ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME', 'VOHWINKEL SYNDROME' and 'BART-PUMPHREY SYNDROME'. Changed MOI to 'monoallelic' only following clinical review because the deafness phenotype alone is not detectable pre-natally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.144 | GJA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.143 | CRYAA | Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.142 | CASK | Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.142 | ALDH18A1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance in original PAGE file was Monoallelic for 'CUTIS LAXA, AUTOSOMAL DOMINANT 3' and 'SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT', and Biallelic for 'MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES'. Clinical review confirmed that ALDH18A1 should be on the panel with both monoallelic and biallelic inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.135 | ARG1 |
Rebecca Foulger Source Expert Review Red was added to ARG1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.134 | NYX | Rebecca Foulger edited their review of gene: NYX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NYX gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYCN | Rebecca Foulger edited their review of gene: MYCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NUP107 | Rebecca Foulger edited their review of gene: NUP107: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NUBPL | Rebecca Foulger edited their review of gene: NUBPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NTRK1 | Rebecca Foulger edited their review of gene: NTRK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NT5C3A | Rebecca Foulger edited their review of gene: NT5C3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NSDHL | Rebecca Foulger edited their review of gene: NSDHL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NSD1 | Rebecca Foulger edited their review of gene: NSD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NRAS | Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NR2F2 | Rebecca Foulger edited their review of gene: NR2F2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NR2F1 | Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPR2 | Rebecca Foulger edited their review of gene: NPR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPHS2 | Rebecca Foulger edited their review of gene: NPHS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHS2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPHS1 | Rebecca Foulger edited their review of gene: NPHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPHP4 | Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPHP3 | Rebecca Foulger edited their review of gene: NPHP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPHP1 | Rebecca Foulger edited their review of gene: NPHP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPC2 | Rebecca Foulger edited their review of gene: NPC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NPC1 | Rebecca Foulger edited their review of gene: NPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NOTCH2 | Rebecca Foulger edited their review of gene: NOTCH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NOG | Rebecca Foulger edited their review of gene: NOG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NODAL | Rebecca Foulger edited their review of gene: NODAL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NMNAT1 | Rebecca Foulger edited their review of gene: NMNAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NMNAT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NKX3-2 | Rebecca Foulger edited their review of gene: NKX3-2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NKX2-5 | Rebecca Foulger edited their review of gene: NKX2-5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NKX2-1 | Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NHS | Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NGLY1 | Rebecca Foulger edited their review of gene: NGLY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NGLY1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NFIX | Rebecca Foulger edited their review of gene: NFIX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NF1 | Rebecca Foulger edited their review of gene: NF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NEU1 | Rebecca Foulger edited their review of gene: NEU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NEK1 | Rebecca Foulger edited their review of gene: NEK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NECTIN4 | Rebecca Foulger edited their review of gene: NECTIN4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NDP | Rebecca Foulger edited their review of gene: NDP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NDP gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NDE1 | Rebecca Foulger edited their review of gene: NDE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NBN | Rebecca Foulger edited their review of gene: NBN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NBAS | Rebecca Foulger edited their review of gene: NBAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NANS | Rebecca Foulger edited their review of gene: NANS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NALCN | Rebecca Foulger edited their review of gene: NALCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NAGS | Rebecca Foulger edited their review of gene: NAGS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NAGS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NAGA | Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NACC1 | Rebecca Foulger edited their review of gene: NACC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NAA10 | Rebecca Foulger edited their review of gene: NAA10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYT1L | Rebecca Foulger edited their review of gene: MYT1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYT1L gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYO5B | Rebecca Foulger edited their review of gene: MYO5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYO5A | Rebecca Foulger edited their review of gene: MYO5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYH9 | Rebecca Foulger edited their review of gene: MYH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could potentially have a bleed in utero.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MUT | Rebecca Foulger edited their review of gene: MUT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MUT gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTRR | Rebecca Foulger edited their review of gene: MTRR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTR | Rebecca Foulger edited their review of gene: MTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTOR | Rebecca Foulger edited their review of gene: MTOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTO1 | Rebecca Foulger edited their review of gene: MTO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTM1 | Rebecca Foulger edited their review of gene: MTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MTHFR | Rebecca Foulger edited their review of gene: MTHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTHFR gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MSX2 | Rebecca Foulger edited their review of gene: MSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MSX1 | Rebecca Foulger edited their review of gene: MSX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MSL3 | Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MRE11 | Rebecca Foulger edited their review of gene: MRE11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MRE11 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MPLKIP | Rebecca Foulger edited their review of gene: MPLKIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Rare structural associations.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MPI | Rebecca Foulger edited their review of gene: MPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MPI gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MPDU1 | Rebecca Foulger edited their review of gene: MPDU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MOCS2 | Rebecca Foulger edited their review of gene: MOCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MOCS1 | Rebecca Foulger edited their review of gene: MOCS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MNX1 | Rebecca Foulger edited their review of gene: MNX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMP21 | Rebecca Foulger edited their review of gene: MMP21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMP13 | Rebecca Foulger edited their review of gene: MMP13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMADHC | Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMADHC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMACHC | Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMAB | Rebecca Foulger edited their review of gene: MMAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MMAA | Rebecca Foulger edited their review of gene: MMAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MLYCD | Rebecca Foulger edited their review of gene: MLYCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MLC1 | Rebecca Foulger edited their review of gene: MLC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MKS1 | Rebecca Foulger edited their review of gene: MKS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MKKS | Rebecca Foulger edited their review of gene: MKKS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MID1 | Rebecca Foulger edited their review of gene: MID1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MICU1 | Rebecca Foulger edited their review of gene: MICU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MICU1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MGP | Rebecca Foulger edited their review of gene: MGP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MGAT2 | Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MFSD8 | Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MFSD2A | Rebecca Foulger edited their review of gene: MFSD2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MFRP | Rebecca Foulger edited their review of gene: MFRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MESP2 | Rebecca Foulger edited their review of gene: MESP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormal vertebrae.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MEGF8 | Rebecca Foulger edited their review of gene: MEGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MEGF10 | Rebecca Foulger edited their review of gene: MEGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MEF2C | Rebecca Foulger edited their review of gene: MEF2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural brain phenotypes.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MED12 | Rebecca Foulger edited their review of gene: MED12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MECP2 | Rebecca Foulger edited their review of gene: MECP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MCPH1 | Rebecca Foulger edited their review of gene: MCPH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Primary microcephaly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MCOLN1 | Rebecca Foulger edited their review of gene: MCOLN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Dysplastic corpus callosum.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MCEE | Rebecca Foulger edited their review of gene: MCEE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCEE gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MCCC2 | Rebecca Foulger edited their review of gene: MCCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MCCC1 | Rebecca Foulger edited their review of gene: MCCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MC2R | Rebecca Foulger edited their review of gene: MC2R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MC2R gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MATN3 | Rebecca Foulger edited their review of gene: MATN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MASP1 | Rebecca Foulger edited their review of gene: MASP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAPRE2 | Rebecca Foulger edited their review of gene: MAPRE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAP3K1 | Rebecca Foulger edited their review of gene: MAP3K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAP2K2 | Rebecca Foulger edited their review of gene: MAP2K2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAP2K1 | Rebecca Foulger edited their review of gene: MAP2K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAF | Rebecca Foulger edited their review of gene: MAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MAB21L2 | Rebecca Foulger edited their review of gene: MAB21L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LYST | Rebecca Foulger edited their review of gene: LYST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Potentially hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LTBP3 | Rebecca Foulger edited their review of gene: LTBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LTBP2 | Rebecca Foulger edited their review of gene: LTBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LTBP2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LRRC6 | Rebecca Foulger edited their review of gene: LRRC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LRP5 | Rebecca Foulger edited their review of gene: LRP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel with biallelic mode of inheritance only. Action taken: Changed mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LRP2 | Rebecca Foulger edited their review of gene: LRP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LMX1B | Rebecca Foulger edited their review of gene: LMX1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LMBRD1 | Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LMBRD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LIG4 | Rebecca Foulger edited their review of gene: LIG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Microcephaly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LHX4 | Rebecca Foulger edited their review of gene: LHX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormalities of the sella turcica; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LHX3 | Rebecca Foulger edited their review of gene: LHX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Small pituitary.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LFNG | Rebecca Foulger edited their review of gene: LFNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LEMD3 | Rebecca Foulger edited their review of gene: LEMD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LEMD3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LBR | Rebecca Foulger edited their review of gene: LBR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LARP7 | Rebecca Foulger edited their review of gene: LARP7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LARGE1 | Rebecca Foulger edited their review of gene: LARGE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LAMC3 | Rebecca Foulger edited their review of gene: LAMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LAMA2 | Rebecca Foulger edited their review of gene: LAMA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LAMA1 | Rebecca Foulger edited their review of gene: LAMA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | L2HGDH | Rebecca Foulger edited their review of gene: L2HGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KRAS | Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KMT5B | Rebecca Foulger edited their review of gene: KMT5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Single report of talipes. Action taken: Demoted KMT5B gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KMT2A | Rebecca Foulger edited their review of gene: KMT2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KLHL40 | Rebecca Foulger edited their review of gene: KLHL40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KLF1 | Rebecca Foulger edited their review of gene: KLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIF7 | Rebecca Foulger edited their review of gene: KIF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIF22 | Rebecca Foulger edited their review of gene: KIF22: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIF1BP | Rebecca Foulger edited their review of gene: KIF1BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIF1A | Rebecca Foulger edited their review of gene: KIF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIF11 | Rebecca Foulger edited their review of gene: KIF11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KIAA0586 | Rebecca Foulger edited their review of gene: KIAA0586: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KDM6A | Rebecca Foulger edited their review of gene: KDM6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KDM5C | Rebecca Foulger edited their review of gene: KDM5C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNQ2 | Rebecca Foulger edited their review of gene: KCNQ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNQ2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNC1 | Rebecca Foulger edited their review of gene: KCNC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNB1 | Rebecca Foulger edited their review of gene: KCNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNB1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNA2 | Rebecca Foulger edited their review of gene: KCNA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNA2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KAT6B | Rebecca Foulger edited their review of gene: KAT6B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KAT6A | Rebecca Foulger edited their review of gene: KAT6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KANSL1 | Rebecca Foulger edited their review of gene: KANSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | JAK3 | Rebecca Foulger edited their review of gene: JAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAK3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | JAGN1 | Rebecca Foulger edited their review of gene: JAGN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAGN1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | JAG1 | Rebecca Foulger edited their review of gene: JAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IVD | Rebecca Foulger edited their review of gene: IVD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IVD gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ITGA7 | Rebecca Foulger edited their review of gene: ITGA7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ITGA7 gene rating from Green to Red.; Changed rating: RED; Changed publications: 9590299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ITGA3 | Rebecca Foulger edited their review of gene: ITGA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ISPD | Rebecca Foulger edited their review of gene: ISPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IRF6 | Rebecca Foulger edited their review of gene: IRF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | INPPL1 | Rebecca Foulger edited their review of gene: INPPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | INPP5E | Rebecca Foulger edited their review of gene: INPP5E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IMPAD1 | Rebecca Foulger edited their review of gene: IMPAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IL1RAPL1 | Rebecca Foulger edited their review of gene: IL1RAPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IKBKG | Rebecca Foulger edited their review of gene: IKBKG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both XLD and XLR modes of inheritance; although there is less evidence for structural features with XLR, there are some reports.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IHH | Rebecca Foulger edited their review of gene: IHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IGSF1 | Rebecca Foulger edited their review of gene: IGSF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IGSF1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IGF2 | Rebecca Foulger edited their review of gene: IGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFT80 | Rebecca Foulger edited their review of gene: IFT80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFT43 | Rebecca Foulger edited their review of gene: IFT43: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFT172 | Rebecca Foulger edited their review of gene: IFT172: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFT140 | Rebecca Foulger edited their review of gene: IFT140: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFT122 | Rebecca Foulger edited their review of gene: IFT122: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IFITM5 | Rebecca Foulger edited their review of gene: IFITM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IDS | Rebecca Foulger edited their review of gene: IDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HYLS1 | Rebecca Foulger edited their review of gene: HYLS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HYAL1 | Rebecca Foulger edited their review of gene: HYAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HYAL1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HUWE1 | Rebecca Foulger edited their review of gene: HUWE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSPG2 | Rebecca Foulger edited their review of gene: HSPG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSF4 | Rebecca Foulger edited their review of gene: HSF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSD3B7 | Rebecca Foulger edited their review of gene: HSD3B7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD3B7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSD17B4 | Rebecca Foulger edited their review of gene: HSD17B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSD17B10 | Rebecca Foulger edited their review of gene: HSD17B10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD17B10 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HR | Rebecca Foulger edited their review of gene: HR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HPSE2 | Rebecca Foulger edited their review of gene: HPSE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HPS1 | Rebecca Foulger edited their review of gene: HPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPS1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HPRT1 | Rebecca Foulger edited their review of gene: HPRT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPRT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HPGD | Rebecca Foulger edited their review of gene: HPGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPGD gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HOXD13 | Rebecca Foulger edited their review of gene: HOXD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HOXC13 | Rebecca Foulger edited their review of gene: HOXC13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HOXC13 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HOXA13 | Rebecca Foulger edited their review of gene: HOXA13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HOXA1 | Rebecca Foulger edited their review of gene: HOXA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HNRNPU | Rebecca Foulger edited their review of gene: HNRNPU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HNRNPU gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HNF4A | Rebecca Foulger edited their review of gene: HNF4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HNF1B | Rebecca Foulger edited their review of gene: HNF1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HMGCS2 | Rebecca Foulger edited their review of gene: HMGCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCS2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HMGCL | Rebecca Foulger edited their review of gene: HMGCL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCL gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HLCS | Rebecca Foulger edited their review of gene: HLCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HLCS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HIVEP2 | Rebecca Foulger edited their review of gene: HIVEP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HINT1 | Rebecca Foulger edited their review of gene: HINT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HINT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HIBCH | Rebecca Foulger edited their review of gene: HIBCH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HGSNAT | Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HGSNAT gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HEXB | Rebecca Foulger edited their review of gene: HEXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HEXA | Rebecca Foulger edited their review of gene: HEXA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HECW2 | Rebecca Foulger edited their review of gene: HECW2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HECW2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HDAC8 | Rebecca Foulger edited their review of gene: HDAC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HDAC4 | Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HDAC4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HCN1 | Rebecca Foulger edited their review of gene: HCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCN1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HCFC1 | Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCFC1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HAX1 | Rebecca Foulger edited their review of gene: HAX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HAX1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HADHA | Rebecca Foulger edited their review of gene: HADHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HADH | Rebecca Foulger edited their review of gene: HADH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HADH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HACE1 | Rebecca Foulger edited their review of gene: HACE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HACE1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GUSB | Rebecca Foulger edited their review of gene: GUSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GUCY2C | Rebecca Foulger edited their review of gene: GUCY2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GTPBP3 | Rebecca Foulger edited their review of gene: GTPBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GTF2H5 | Rebecca Foulger edited their review of gene: GTF2H5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRM6 | Rebecca Foulger edited their review of gene: GRM6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRM6 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIN2B | Rebecca Foulger edited their review of gene: GRIN2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIN2A | Rebecca Foulger edited their review of gene: GRIN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIN2A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIN1 | Rebecca Foulger edited their review of gene: GRIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIK2 | Rebecca Foulger edited their review of gene: GRIK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIK2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIA3 | Rebecca Foulger edited their review of gene: GRIA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIA3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRHL3 | Rebecca Foulger edited their review of gene: GRHL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GPSM2 | Rebecca Foulger edited their review of gene: GPSM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GPC3 | Rebecca Foulger edited their review of gene: GPC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GORAB | Rebecca Foulger edited their review of gene: GORAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNS | Rebecca Foulger edited their review of gene: GNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNPTG | Rebecca Foulger edited their review of gene: GNPTG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNPTAB | Rebecca Foulger edited their review of gene: GNPTAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNPAT | Rebecca Foulger edited their review of gene: GNPAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNB1 | Rebecca Foulger edited their review of gene: GNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNAS | Rebecca Foulger edited their review of gene: GNAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNAO1 | Rebecca Foulger edited their review of gene: GNAO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May detect thin corpus callosum pre-natally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GNAI3 | Rebecca Foulger edited their review of gene: GNAI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GMPPB | Rebecca Foulger edited their review of gene: GMPPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GMPPA | Rebecca Foulger edited their review of gene: GMPPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GMPPA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLUL | Rebecca Foulger edited their review of gene: GLUL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLUD1 | Rebecca Foulger edited their review of gene: GLUD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted GLUD1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLIS3 | Rebecca Foulger edited their review of gene: GLIS3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLI3 | Rebecca Foulger edited their review of gene: GLI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLI2 | Rebecca Foulger edited their review of gene: GLI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLE1 | Rebecca Foulger edited their review of gene: GLE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GLDC | Rebecca Foulger edited their review of gene: GLDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Absent corpus callosumis a variable phenotype.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJC2 | Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJB2 | Rebecca Foulger edited their review of gene: GJB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel on basis of possible congenital digit constrictions and no harm done. Change MOI to monoallelic only: Recessive inheritance is attributed to the deafness phenotype, which would not be detected prenatally. Action taken: Changed mode of inheritance from 'both biallelic and monoallelic' to 'monoallelic' only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJA8 | Rebecca Foulger edited their review of gene: GJA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJA3 | Rebecca Foulger edited their review of gene: GJA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJA1 | Rebecca Foulger edited their review of gene: GJA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GHR | Rebecca Foulger edited their review of gene: GHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Baby is normal size at birth and fails to grow afterwards, so not detectable prenatally. Action taken: Demoted GHR gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GFM1 | Rebecca Foulger edited their review of gene: GFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Enough structural features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GFAP | Rebecca Foulger edited their review of gene: GFAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GDI1 | Rebecca Foulger edited their review of gene: GDI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No associated structural phenotypes. Action taken: Demoted GDI1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GDF6 | Rebecca Foulger edited their review of gene: GDF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GDF5 | Rebecca Foulger edited their review of gene: GDF5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GCH1 | Rebecca Foulger edited their review of gene: GCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCH1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GCDH | Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCDH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GATM | Rebecca Foulger edited their review of gene: GATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATM gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GATAD2B | Rebecca Foulger edited their review of gene: GATAD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATAD2B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GATA6 | Rebecca Foulger edited their review of gene: GATA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GATA4 | Rebecca Foulger edited their review of gene: GATA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GAMT | Rebecca Foulger edited their review of gene: GAMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GAMT gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GALT | Rebecca Foulger edited their review of gene: GALT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GALT gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GALNS | Rebecca Foulger edited their review of gene: GALNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GALK1 | Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Just cataracts, preventable with early dietary management so not detectable prentally. Action taken: Demoted GALK1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GALE | Rebecca Foulger edited their review of gene: GALE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALE gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GALC | Rebecca Foulger edited their review of gene: GALC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GABRB3 | Rebecca Foulger edited their review of gene: GABRB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early Infantile Epileptic encephalopathy (EIEE) but no structural phenotypes. Action taken: Demoted GABRB3 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FZD6 | Rebecca Foulger edited their review of gene: FZD6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FZD6 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FYCO1 | Rebecca Foulger edited their review of gene: FYCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FTSJ1 | Rebecca Foulger edited their review of gene: FTSJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No additional structural features. Action taken: Demoted FTSJ1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FTL | Rebecca Foulger edited their review of gene: FTL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTL gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FTCD | Rebecca Foulger edited their review of gene: FTCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTCD gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FRMD7 | Rebecca Foulger edited their review of gene: FRMD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FRMD7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FREM2 | Rebecca Foulger edited their review of gene: FREM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FREM1 | Rebecca Foulger edited their review of gene: FREM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FRAS1 | Rebecca Foulger edited their review of gene: FRAS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXRED1 | Rebecca Foulger edited their review of gene: FOXRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXP1 | Rebecca Foulger edited their review of gene: FOXP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXN1 | Rebecca Foulger edited their review of gene: FOXN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXN1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXG1 | Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotypes only. Action taken: Demoted FOXG1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXF1 | Rebecca Foulger edited their review of gene: FOXF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXE3 | Rebecca Foulger edited their review of gene: FOXE3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXE1 | Rebecca Foulger edited their review of gene: FOXE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXC2 | Rebecca Foulger edited their review of gene: FOXC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXC1 | Rebecca Foulger edited their review of gene: FOXC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOLR1 | Rebecca Foulger edited their review of gene: FOLR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLVCR2 | Rebecca Foulger edited their review of gene: FLVCR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLVCR1 | Rebecca Foulger edited their review of gene: FLVCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FLVCR1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLNB | Rebecca Foulger edited their review of gene: FLNB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLAD1 | Rebecca Foulger edited their review of gene: FLAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable prenatally. Action taken: Demoted FLAD1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FKTN | Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FKTN gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FKRP | Rebecca Foulger edited their review of gene: FKRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FKBP14 | Rebecca Foulger edited their review of gene: FKBP14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FHL1 | Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FH | Rebecca Foulger edited their review of gene: FH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FH gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGFR1 | Rebecca Foulger edited their review of gene: FGFR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGF3 | Rebecca Foulger edited their review of gene: FGF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGF12 | Rebecca Foulger edited their review of gene: FGF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early brain imaging is normal. Action taken: Demoted FGF12 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGF10 | Rebecca Foulger edited their review of gene: FGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGD1 | Rebecca Foulger edited their review of gene: FGD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FBXL4 | Rebecca Foulger edited their review of gene: FBXL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FBP1 | Rebecca Foulger edited their review of gene: FBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FBN2 | Rebecca Foulger edited their review of gene: FBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FBN1 | Rebecca Foulger edited their review of gene: FBN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAT4 | Rebecca Foulger edited their review of gene: FAT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAR1 | Rebecca Foulger edited their review of gene: FAR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCI | Rebecca Foulger edited their review of gene: FANCI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCG | Rebecca Foulger edited their review of gene: FANCG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCF | Rebecca Foulger edited their review of gene: FANCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCE | Rebecca Foulger edited their review of gene: FANCE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCD2 | Rebecca Foulger edited their review of gene: FANCD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCC | Rebecca Foulger edited their review of gene: FANCC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCA | Rebecca Foulger edited their review of gene: FANCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAM58A | Rebecca Foulger edited their review of gene: FAM58A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAM20C | Rebecca Foulger edited their review of gene: FAM20C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAM20A | Rebecca Foulger edited their review of gene: FAM20A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAM126A | Rebecca Foulger edited their review of gene: FAM126A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAM111A | Rebecca Foulger edited their review of gene: FAM111A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FAH | Rebecca Foulger edited their review of gene: FAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EZH2 | Rebecca Foulger edited their review of gene: EZH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EYA1 | Rebecca Foulger edited their review of gene: EYA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EXT2 | Rebecca Foulger edited their review of gene: EXT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EXT1 | Rebecca Foulger edited their review of gene: EXT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EXOSC3 | Rebecca Foulger edited their review of gene: EXOSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EVC | Rebecca Foulger edited their review of gene: EVC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ETHE1 | Rebecca Foulger edited their review of gene: ETHE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ETHE1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ETFDH | Rebecca Foulger edited their review of gene: ETFDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ETFB | Rebecca Foulger edited their review of gene: ETFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ETFA | Rebecca Foulger edited their review of gene: ETFA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ESCO2 | Rebecca Foulger edited their review of gene: ESCO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERF | Rebecca Foulger edited their review of gene: ERF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERCC8 | Rebecca Foulger edited their review of gene: ERCC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERCC6L2 | Rebecca Foulger edited their review of gene: ERCC6L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ERCC6L2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERCC6 | Rebecca Foulger edited their review of gene: ERCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERCC3 | Rebecca Foulger edited their review of gene: ERCC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ERCC2 | Rebecca Foulger edited their review of gene: ERCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EPG5 | Rebecca Foulger edited their review of gene: EPG5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EP300 | Rebecca Foulger edited their review of gene: EP300: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EOGT | Rebecca Foulger edited their review of gene: EOGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ENPP1 | Rebecca Foulger edited their review of gene: ENPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable in utero. Action taken: Demoted ENPP1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ELOVL4 | Rebecca Foulger edited their review of gene: ELOVL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ELN | Rebecca Foulger edited their review of gene: ELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ELAC2 | Rebecca Foulger edited their review of gene: ELAC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance to avoid picking up susceptibility to prostate cancer as an incidental finding.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EIF4A3 | Rebecca Foulger edited their review of gene: EIF4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EIF2AK3 | Rebecca Foulger edited their review of gene: EIF2AK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EHMT1 | Rebecca Foulger edited their review of gene: EHMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EGR2 | Rebecca Foulger edited their review of gene: EGR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted EGR2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EFTUD2 | Rebecca Foulger edited their review of gene: EFTUD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EFNB1 | Rebecca Foulger edited their review of gene: EFNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EDNRB | Rebecca Foulger edited their review of gene: EDNRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EDNRA | Rebecca Foulger edited their review of gene: EDNRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EDA | Rebecca Foulger edited their review of gene: EDA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ECEL1 | Rebecca Foulger edited their review of gene: ECEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EBP | Rebecca Foulger edited their review of gene: EBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EBF3 | Rebecca Foulger edited their review of gene: EBF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DYRK1A | Rebecca Foulger edited their review of gene: DYRK1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DYNC1H1 | Rebecca Foulger edited their review of gene: DYNC1H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DYM | Rebecca Foulger edited their review of gene: DYM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DVL3 | Rebecca Foulger edited their review of gene: DVL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DVL1 | Rebecca Foulger edited their review of gene: DVL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DSTYK | Rebecca Foulger edited their review of gene: DSTYK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DSPP | Rebecca Foulger edited their review of gene: DSPP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DSPP gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DPM1 | Rebecca Foulger edited their review of gene: DPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DPAGT1 | Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DPAGT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DOLK | Rebecca Foulger edited their review of gene: DOLK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DOCK8 | Rebecca Foulger edited their review of gene: DOCK8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DOCK8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNMT3B | Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3B gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNMT3A | Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNAAF4 | Rebecca Foulger edited their review of gene: DNAAF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNAAF3 | Rebecca Foulger edited their review of gene: DNAAF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DMPK | Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DMP1 | Rebecca Foulger edited their review of gene: DMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DMP1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DLL4 | Rebecca Foulger edited their review of gene: DLL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DLL3 | Rebecca Foulger edited their review of gene: DLL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DLG3 | Rebecca Foulger edited their review of gene: DLG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted DLG3 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DIS3L2 | Rebecca Foulger edited their review of gene: DIS3L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DHODH | Rebecca Foulger edited their review of gene: DHODH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DHFR | Rebecca Foulger edited their review of gene: DHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable: can manage postnatally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DHCR7 | Rebecca Foulger edited their review of gene: DHCR7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Lots of phenotypes that would present prenatally including ambiguous genitalia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DHCR24 | Rebecca Foulger edited their review of gene: DHCR24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DEPDC5 | Rebecca Foulger edited their review of gene: DEPDC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Epilepsy but no structural brain defects, so probably not detectable prenatally. Action taken: Demoted DEPDC5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDX11 | Rebecca Foulger edited their review of gene: DDX11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital heart defects reported.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDR2 | Rebecca Foulger edited their review of gene: DDR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDOST | Rebecca Foulger edited their review of gene: DDOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDOST gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDHD1 | Rebecca Foulger edited their review of gene: DDHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDHD1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDC | Rebecca Foulger edited their review of gene: DDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDC gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DDB2 | Rebecca Foulger edited their review of gene: DDB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDB2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DCX | Rebecca Foulger edited their review of gene: DCX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DCHS1 | Rebecca Foulger edited their review of gene: DCHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DBT | Rebecca Foulger edited their review of gene: DBT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DBT gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DARS | Rebecca Foulger edited their review of gene: DARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear if the phenotype will present pre-natally, include on the panel due to thinning of the corpus callosumand it won't do any harm to include on the panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DAG1 | Rebecca Foulger edited their review of gene: DAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural phenotypes; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP2U1 | Rebecca Foulger edited their review of gene: CYP2U1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Possibility of fetal phenotype.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP1B1 | Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No features beyond glaucoma. Action taken: Demoted CYP1B1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYC1 | Rebecca Foulger edited their review of gene: CYC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset of episodic lactic acidosis etc is in childhood. Action taken: Demoted CYC1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CUL7 | Rebecca Foulger edited their review of gene: CUL7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Pre- and postnatal growth retardation reported.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CUL4B | Rebecca Foulger edited their review of gene: CUL4B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTSK | Rebecca Foulger edited their review of gene: CTSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Aplasia of clavicle reported amongst OMIM phenotypes.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTSD | Rebecca Foulger edited their review of gene: CTSD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can have very early onset in infancy (some reported patients died within days of birth).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTSA | Rebecca Foulger edited their review of gene: CTSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:7759227 (Landau et al, 1995) reports that galactosialidosis can cause non-immune hydrops.; Changed rating: GREEN; Changed publications: 7759227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTNS | Rebecca Foulger edited their review of gene: CTNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CTNS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTNNB1 | Rebecca Foulger edited their review of gene: CTNNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Intrauterine growth restriction (IUGR) reported in 3 patients in PMID:27915094 (Table 1).; Changed rating: GREEN; Changed publications: 27915094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTCF | Rebecca Foulger edited their review of gene: CTCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Some structural phenotypes.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTC1 | Rebecca Foulger edited their review of gene: CTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: The phenotype is progressive, but include on the panel because it includes Intrauterine growth restriction (IUGR).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CSTB | Rebecca Foulger edited their review of gene: CSTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CSTB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CSPP1 | Rebecca Foulger edited their review of gene: CSPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CSNK2A1 | Rebecca Foulger edited their review of gene: CSNK2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYGD | Rebecca Foulger edited their review of gene: CRYGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYGC | Rebecca Foulger edited their review of gene: CRYGC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYBB3 | Rebecca Foulger edited their review of gene: CRYBB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYBB2 | Rebecca Foulger edited their review of gene: CRYBB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYBB1 | Rebecca Foulger edited their review of gene: CRYBB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYBA4 | Rebecca Foulger edited their review of gene: CRYBA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYBA1 | Rebecca Foulger edited their review of gene: CRYBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRYAA | Rebecca Foulger edited their review of gene: CRYAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both AD and AR modes of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRX | Rebecca Foulger edited their review of gene: CRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype presents later. Action taken: Demoted CRX gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CREBBP | Rebecca Foulger edited their review of gene: CREBBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Several dysmorphic features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRB2 | Rebecca Foulger edited their review of gene: CRB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRB1 | Rebecca Foulger edited their review of gene: CRB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Mainly retinal phenotype. You can see cataracts on a pre-natal scan but in this case the cataracts are progressive and appear later. Action taken: Demoted CRB1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CPS1 | Rebecca Foulger edited their review of gene: CPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not detectable pre-natally- the baby would present normally but deterioriate quickly after. Action taken: Demoted CPS1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COX7B | Rebecca Foulger edited their review of gene: COX7B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COMP | Rebecca Foulger edited their review of gene: COMP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COLEC11 | Rebecca Foulger edited their review of gene: COLEC11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL9A3 | Rebecca Foulger edited their review of gene: COL9A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL9A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL9A2 | Rebecca Foulger edited their review of gene: COL9A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL9A1 | Rebecca Foulger edited their review of gene: COL9A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL6A3 | Rebecca Foulger edited their review of gene: COL6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL6A1 | Rebecca Foulger edited their review of gene: COL6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL4A4 | Rebecca Foulger edited their review of gene: COL4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COL4A4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL4A3BP | Rebecca Foulger edited their review of gene: COL4A3BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL4A3 | Rebecca Foulger edited their review of gene: COL4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Action taken: Demoted COL4A3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL18A1 | Rebecca Foulger edited their review of gene: COL18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL11A2 | Rebecca Foulger edited their review of gene: COL11A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL11A1 | Rebecca Foulger edited their review of gene: COL11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL10A1 | Rebecca Foulger edited their review of gene: COL10A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COG8 | Rebecca Foulger edited their review of gene: COG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:30690882 reports the first antenatal case.; Changed rating: GREEN; Changed publications: 30690882 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COG7 | Rebecca Foulger edited their review of gene: COG7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COG4 | Rebecca Foulger edited their review of gene: COG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COG1 | Rebecca Foulger edited their review of gene: COG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COASY | Rebecca Foulger edited their review of gene: COASY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CNTNAP2 | Rebecca Foulger edited their review of gene: CNTNAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CNOT3 | Rebecca Foulger edited their review of gene: CNOT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Polyhydramnios; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLPB | Rebecca Foulger edited their review of gene: CLPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Presentation at birth/prenatal in severe forms.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN8 | Rebecca Foulger edited their review of gene: CLN8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN8 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN5 | Rebecca Foulger edited their review of gene: CLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN3 | Rebecca Foulger edited their review of gene: CLN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Juvenile onset. Action taken: Demoted CLN3 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLDN19 | Rebecca Foulger edited their review of gene: CLDN19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not detectable prenatally (unlikely to see coloboma). Action taken: Demoted CLDN19 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLCN7 | Rebecca Foulger edited their review of gene: CLCN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CKAP2L | Rebecca Foulger edited their review of gene: CKAP2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotypes include cerebellar atrophy, Ventricular septal defect (VSD), Intrauterine growth restriction (IUGR) and microcephaly.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CIB2 | Rebecca Foulger edited their review of gene: CIB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The phenotypes of deafness and Retinitis pigmentosa (part of Usher syndrome, type IJ) would not present prenatally. Action taken: Demoted CIB2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHUK | Rebecca Foulger edited their review of gene: CHUK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHSY1 | Rebecca Foulger edited their review of gene: CHSY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHST3 | Rebecca Foulger edited their review of gene: CHST3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHST14 | Rebecca Foulger edited their review of gene: CHST14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause Arthrogryposis.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHRNG | Rebecca Foulger edited their review of gene: CHRNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHRNA4 | Rebecca Foulger edited their review of gene: CHRNA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CHRNA4 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHRDL1 | Rebecca Foulger edited their review of gene: CHRDL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The megalocornea phenotype would not be detected pre-natally. Action taken: Demoted CHRDL1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHD7 | Rebecca Foulger edited their review of gene: CHD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHD4 | Rebecca Foulger edited their review of gene: CHD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHD2 | Rebecca Foulger edited their review of gene: CHD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype does not include structural anomalies for detecting pre-natally. Action taken: Demoted CHD2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHAMP1 | Rebecca Foulger edited their review of gene: CHAMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP83 | Rebecca Foulger edited their review of gene: CEP83: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP57 | Rebecca Foulger edited their review of gene: CEP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP41 | Rebecca Foulger edited their review of gene: CEP41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP290 | Rebecca Foulger edited their review of gene: CEP290: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP152 | Rebecca Foulger edited their review of gene: CEP152: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP104 | Rebecca Foulger edited their review of gene: CEP104: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDKN1C | Rebecca Foulger edited their review of gene: CDKN1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Point mutations in CDKN1C can cause phenotypes, and be picked up by this panel. OMIM confirms that CDKN1C is paternally-imprinted with preferential expression of the maternal allele.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDKL5 | Rebecca Foulger edited their review of gene: CDKL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes progressive microcephaly (which may or may not be detectable in a fetus) plus subtle dysmorphic features and small feet.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDK13 | Rebecca Foulger edited their review of gene: CDK13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDH3 | Rebecca Foulger edited their review of gene: CDH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDC6 | Rebecca Foulger edited their review of gene: CDC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDC45 | Rebecca Foulger edited their review of gene: CDC45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCND2 | Rebecca Foulger edited their review of gene: CCND2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCDC40 | Rebecca Foulger edited their review of gene: CCDC40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCDC39 | Rebecca Foulger edited their review of gene: CCDC39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCDC115 | Rebecca Foulger edited their review of gene: CCDC115: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CCDC115 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCDC114 | Rebecca Foulger edited their review of gene: CCDC114: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCDC103 | Rebecca Foulger edited their review of gene: CCDC103: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CCBE1 | Rebecca Foulger edited their review of gene: CCBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CC2D2A | Rebecca Foulger edited their review of gene: CC2D2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CC2D1A | Rebecca Foulger edited their review of gene: CC2D1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant Additional notes from clinical review: Phenotype doesn't include structural abnormalities. Action taken: Demoted CC2D1A gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CBS | Rebecca Foulger edited their review of gene: CBS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CBS gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CBL | Rebecca Foulger edited their review of gene: CBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CASK | Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CAD | Rebecca Foulger edited their review of gene: CAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CACNA1C | Rebecca Foulger edited their review of gene: CACNA1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital abnormalities.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CA8 | Rebecca Foulger edited their review of gene: CA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CA2 | Rebecca Foulger edited their review of gene: CA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C8orf37 | Rebecca Foulger edited their review of gene: C8orf37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C5orf42 | Rebecca Foulger edited their review of gene: C5orf42: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C4orf26 | Rebecca Foulger edited their review of gene: C4orf26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted C4orf26 (ODAPH) gene rating from Green to Red.; Changed rating: RED; Changed phenotypes: Amelogenesis imperfecta, type IIA4, 614832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C2orf71 | Rebecca Foulger edited their review of gene: C2orf71: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C21orf2 | Rebecca Foulger edited their review of gene: C21orf2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C12orf65 | Rebecca Foulger edited their review of gene: C12orf65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Arthrogryposis reported amongst the phenotypes in OMIM.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BUB1B | Rebecca Foulger edited their review of gene: BUB1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural defects.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BTD | Rebecca Foulger edited their review of gene: BTD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Postnatal neurological phenotype, but also relevant for fetal panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BSND | Rebecca Foulger edited their review of gene: BSND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BRWD3 | Rebecca Foulger edited their review of gene: BRWD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BRWD3 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BRPF1 | Rebecca Foulger edited their review of gene: BRPF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes club feet.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BRIP1 | Rebecca Foulger edited their review of gene: BRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BRAF | Rebecca Foulger edited their review of gene: BRAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BMPR1B | Rebecca Foulger edited their review of gene: BMPR1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BMPER | Rebecca Foulger edited their review of gene: BMPER: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BMP4 | Rebecca Foulger edited their review of gene: BMP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BLM | Rebecca Foulger edited their review of gene: BLM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Phenotypes include microcephaly and growth restriction.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BIN1 | Rebecca Foulger edited their review of gene: BIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BICD2 | Rebecca Foulger edited their review of gene: BICD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BICD2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BHLHA9 | Rebecca Foulger edited their review of gene: BHLHA9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BFSP2 | Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BFSP2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BCOR | Rebecca Foulger edited their review of gene: BCOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BCL11A | Rebecca Foulger edited their review of gene: BCL11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BCKDHB | Rebecca Foulger edited their review of gene: BCKDHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BCKDHA | Rebecca Foulger edited their review of gene: BCKDHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted BCKDHA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BCAP31 | Rebecca Foulger edited their review of gene: BCAP31: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS9 | Rebecca Foulger edited their review of gene: BBS9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS7 | Rebecca Foulger edited their review of gene: BBS7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS5 | Rebecca Foulger edited their review of gene: BBS5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS2 | Rebecca Foulger edited their review of gene: BBS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS12 | Rebecca Foulger edited their review of gene: BBS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS10 | Rebecca Foulger edited their review of gene: BBS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS1 | Rebecca Foulger edited their review of gene: BBS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | B4GALT7 | Rebecca Foulger edited their review of gene: B4GALT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | B3GALT6 | Rebecca Foulger edited their review of gene: B3GALT6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATRX | Rebecca Foulger edited their review of gene: ATRX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATP8B1 | Rebecca Foulger edited their review of gene: ATP8B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP8B1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATP7A | Rebecca Foulger edited their review of gene: ATP7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATP6V1B1 | Rebecca Foulger edited their review of gene: ATP6V1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP6V1B1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATM | Rebecca Foulger edited their review of gene: ATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATM gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATIC | Rebecca Foulger edited their review of gene: ATIC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ASXL1 | Rebecca Foulger edited their review of gene: ASXL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ASPM | Rebecca Foulger edited their review of gene: ASPM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ASPA | Rebecca Foulger edited their review of gene: ASPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ASL | Rebecca Foulger edited their review of gene: ASL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ASL gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARX | Rebecca Foulger edited their review of gene: ARX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARSE | Rebecca Foulger edited their review of gene: ARSE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARSB | Rebecca Foulger edited their review of gene: ARSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes multiple features that would present pre-natally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARMC9 | Rebecca Foulger edited their review of gene: ARMC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARMC4 | Rebecca Foulger edited their review of gene: ARMC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes Situs inversus.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARL6 | Rebecca Foulger edited their review of gene: ARL6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARID1B | Rebecca Foulger edited their review of gene: ARID1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARID1A | Rebecca Foulger edited their review of gene: ARID1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ARG1 | Rebecca Foulger edited their review of gene: ARG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ARG1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | APTX | Rebecca Foulger edited their review of gene: APTX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APTX gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | APOPT1 | Rebecca Foulger edited their review of gene: APOPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted APOPT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AP4E1 | Rebecca Foulger edited their review of gene: AP4E1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AP1S2 | Rebecca Foulger edited their review of gene: AP1S2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ANTXR1 | Rebecca Foulger edited their review of gene: ANTXR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ANKRD11 | Rebecca Foulger edited their review of gene: ANKRD11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ANKH | Rebecca Foulger edited their review of gene: ANKH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AMT | Rebecca Foulger edited their review of gene: AMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AMPD2 | Rebecca Foulger edited their review of gene: AMPD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALX4 | Rebecca Foulger edited their review of gene: ALX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALX3 | Rebecca Foulger edited their review of gene: ALX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALX1 | Rebecca Foulger edited their review of gene: ALX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALS2 | Rebecca Foulger edited their review of gene: ALS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The age of onset is 3-20 years. Action taken: Demoted ALS2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALMS1 | Rebecca Foulger edited their review of gene: ALMS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (>3) in OMIM to support gene:disease association.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALG8 | Rebecca Foulger edited their review of gene: ALG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALG6 | Rebecca Foulger edited their review of gene: ALG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALG3 | Rebecca Foulger edited their review of gene: ALG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALG1 | Rebecca Foulger edited their review of gene: ALG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDOA | Rebecca Foulger edited their review of gene: ALDOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH7A1 | Rebecca Foulger edited their review of gene: ALDH7A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype has prenatal or neonatal onset and includes in utero convulsions. Treatable.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH5A1 | Rebecca Foulger edited their review of gene: ALDH5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH5A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH4A1 | Rebecca Foulger edited their review of gene: ALDH4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ALDH4A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH3A2 | Rebecca Foulger edited their review of gene: ALDH3A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with brain abnormalities.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH1A3 | Rebecca Foulger edited their review of gene: ALDH1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH18A1 | Rebecca Foulger edited their review of gene: ALDH18A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with both monoallelic and biallelic mode of inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AKT1 | Rebecca Foulger edited their review of gene: AKT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AKR1D1 | Rebecca Foulger edited their review of gene: AKR1D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AKR1D1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AK2 | Rebecca Foulger edited their review of gene: AK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AK2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AIPL1 | Rebecca Foulger edited their review of gene: AIPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AIPL1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AHI1 | Rebecca Foulger edited their review of gene: AHI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AHDC1 | Rebecca Foulger edited their review of gene: AHDC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AGPS | Rebecca Foulger edited their review of gene: AGPS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AGL | Rebecca Foulger edited their review of gene: AGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AGK | Rebecca Foulger edited their review of gene: AGK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Bilateral cataracts in first week of life which can be picked up prenatally. 3/12 died in neonatal period.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AGA | Rebecca Foulger edited their review of gene: AGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AGA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AFF4 | Rebecca Foulger edited their review of gene: AFF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AFF2 | Rebecca Foulger edited their review of gene: AFF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AFF2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADSL | Rebecca Foulger edited their review of gene: ADSL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May present with cerebellar atrophy.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADGRG6 | Rebecca Foulger edited their review of gene: ADGRG6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADGRG1 | Rebecca Foulger edited their review of gene: ADGRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADAR | Rebecca Foulger edited their review of gene: ADAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADA | Rebecca Foulger edited their review of gene: ADA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ADA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACY1 | Rebecca Foulger edited their review of gene: ACY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because the phenotype is severe, and Cerebellar atrophy was reported in 1 patient (OMIM Clinical Synopsis).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACTG1 | Rebecca Foulger edited their review of gene: ACTG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACP5 | Rebecca Foulger edited their review of gene: ACP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACOX1 | Rebecca Foulger edited their review of gene: ACOX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Brain malformations may be picked up in a late MRI scan.; Changed rating: GREEN; Changed phenotypes: ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, 264470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACAT1 | Rebecca Foulger edited their review of gene: ACAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ACAT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACAN | Rebecca Foulger edited their review of gene: ACAN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACADVL | Rebecca Foulger edited their review of gene: ACADVL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Infantile myopathy presents in the first week of life, and therefore could present in late pregnancy.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACADM | Rebecca Foulger edited their review of gene: ACADM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: This phenotype is screened for neonatally, and would not see pre-natally. Action taken: Demoted ACADM gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACAD9 | Rebecca Foulger edited their review of gene: ACAD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: PMID:26475292 includes one pre-natal case.; Changed rating: GREEN; Changed publications: 26475292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABHD5 | Rebecca Foulger edited their review of gene: ABHD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because Collodion baby is one of the phenotypes of Chanarin-Dorfman syndrome.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABCC9 | Rebecca Foulger edited their review of gene: ABCC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABCC6 | Rebecca Foulger edited their review of gene: ABCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABCB7 | Rebecca Foulger edited their review of gene: ABCB7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB7 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABCB11 | Rebecca Foulger edited their review of gene: ABCB11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ABCB11 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AAAS | Rebecca Foulger edited their review of gene: AAAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | UBA1 | Rebecca Foulger edited their review of gene: UBA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TTC21B | Rebecca Foulger edited their review of gene: TTC21B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TPM3 | Rebecca Foulger edited their review of gene: TPM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TNXB | Rebecca Foulger edited their review of gene: TNXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TNXB gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TNNT1 | Rebecca Foulger edited their review of gene: TNNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TNNI2 | Rebecca Foulger edited their review of gene: TNNI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TMEM231 | Rebecca Foulger edited their review of gene: TMEM231: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TMEM138 | Rebecca Foulger edited their review of gene: TMEM138: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TGM1 | Rebecca Foulger edited their review of gene: TGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TGIF1 | Rebecca Foulger edited their review of gene: TGIF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TCIRG1 | Rebecca Foulger edited their review of gene: TCIRG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TBX6 | Rebecca Foulger edited their review of gene: TBX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SRD5A2 | Rebecca Foulger edited their review of gene: SRD5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SP110 | Rebecca Foulger edited their review of gene: SP110: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SP110 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SOST | Rebecca Foulger edited their review of gene: SOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Change mode of inheritance to 'both monoallelic and biallelic' to include AD Craniodiaphyseal dysplasia. Action taken: Changed Mode of inheritance from 'biallelic' to 'both monoallelic and biallelic'.; Changed rating: GREEN; Changed phenotypes: Craniodiaphyseal dysplasia, autosomal dominant, 122860, Sclerosteosis 1, 269500; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SLC26A3 | Rebecca Foulger edited their review of gene: SLC26A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SLC12A1 | Rebecca Foulger edited their review of gene: SLC12A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SGCA | Rebecca Foulger edited their review of gene: SGCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SGCA gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SELENON | Rebecca Foulger edited their review of gene: SELENON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SELENON gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RPS26 | Rebecca Foulger edited their review of gene: RPS26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RPS17 | Rebecca Foulger edited their review of gene: RPS17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RPS10 | Rebecca Foulger edited their review of gene: RPS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RPL5 | Rebecca Foulger edited their review of gene: RPL5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RPL11 | Rebecca Foulger edited their review of gene: RPL11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | REN | Rebecca Foulger edited their review of gene: REN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PRG4 | Rebecca Foulger edited their review of gene: PRG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | POR | Rebecca Foulger edited their review of gene: POR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PKLR | Rebecca Foulger edited their review of gene: PKLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PKD2 | Rebecca Foulger edited their review of gene: PKD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PKD1 | Rebecca Foulger edited their review of gene: PKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | OSTM1 | Rebecca Foulger edited their review of gene: OSTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | OCLN | Rebecca Foulger edited their review of gene: OCLN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NR0B1 | Rebecca Foulger edited their review of gene: NR0B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NHEJ1 | Rebecca Foulger edited their review of gene: NHEJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYBPC1 | Rebecca Foulger edited their review of gene: MYBPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MSH6 | Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MSH2 | Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but these rare tumours could potentially present neonatally. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MLH1 | Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- phenotype presents in childhood, but very rarely there is a chance of tumours presenting very early as fetal adrenal/renal masses. Action taken: Changed Mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MBTPS2 | Rebecca Foulger edited their review of gene: MBTPS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LZTFL1 | Rebecca Foulger edited their review of gene: LZTFL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LTBP4 | Rebecca Foulger edited their review of gene: LTBP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient (>3) cases in OMIM to support gene:disease association.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LMOD3 | Rebecca Foulger edited their review of gene: LMOD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LMBR1 | Rebecca Foulger edited their review of gene: LMBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | LIFR | Rebecca Foulger edited their review of gene: LIFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KLHL41 | Rebecca Foulger edited their review of gene: KLHL41: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Biallelic inheritance. Sufficient (>3) unrelated cases in OMIM to support gene:disease association.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNJ2 | Rebecca Foulger edited their review of gene: KCNJ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases in OMIM to support gene:disease association, and phenotype would include some structural features.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCNJ1 | Rebecca Foulger edited their review of gene: KCNJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Sufficient cases (3) in OMIM to support gene:disease association.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ITGB4 | Rebecca Foulger edited their review of gene: ITGB4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. ITGB4 is rated Green on the V1.6 'Epidermolysis bullosa' panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ITGA6 | Rebecca Foulger edited their review of gene: ITGA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Prenatally relevant. Although there is only one reported case in OMIM, ITGA6 is rated Green on the V1.6 'Epidermolysis bullosa' panel due to expert review and recent additional publications.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IQCB1 | Rebecca Foulger edited their review of gene: IQCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | INVS | Rebecca Foulger edited their review of gene: INVS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | INSR | Rebecca Foulger edited their review of gene: INSR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | IER3IP1 | Rebecca Foulger edited their review of gene: IER3IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HSD17B3 | Rebecca Foulger edited their review of gene: HSD17B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could present with ambiguous genitalia.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HES7 | Rebecca Foulger edited their review of gene: HES7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GRIP1 | Rebecca Foulger edited their review of gene: GRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include. 3 unrelated cases reported in PMID:22510445.; Changed rating: GREEN; Changed publications: 22510445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GPI | Rebecca Foulger edited their review of gene: GPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include GPI gene because could hydrops is a feature.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGF8 | Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include- the pituitary would present as structurally abnormal.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FBLN5 | Rebecca Foulger edited their review of gene: FBLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only- Macular degeneration presents with AD inheritance so don't want to include this.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNAI1 | Rebecca Foulger edited their review of gene: DNAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNAH11 | Rebecca Foulger edited their review of gene: DNAH11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DNAAF1 | Rebecca Foulger edited their review of gene: DNAAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP21A2 | Rebecca Foulger edited their review of gene: CYP21A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP17A1 | Rebecca Foulger edited their review of gene: CYP17A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP11B1 | Rebecca Foulger edited their review of gene: CYP11B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRTAP | Rebecca Foulger edited their review of gene: CRTAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CRLF1 | Rebecca Foulger edited their review of gene: CRLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CPT2 | Rebecca Foulger edited their review of gene: CPT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL5A2 | Rebecca Foulger edited their review of gene: COL5A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A2 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL5A1 | Rebecca Foulger edited their review of gene: COL5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: pre-natal diagnosis will not explain phenotype in the fetus. Action taken: Demoted COL5A1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHRND | Rebecca Foulger edited their review of gene: CHRND: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHKB | Rebecca Foulger edited their review of gene: CHKB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: unclear whether it would present pre-natally but would want to know this result due to severe phenotype.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CHAT | Rebecca Foulger edited their review of gene: CHAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CFTR | Rebecca Foulger edited their review of gene: CFTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CEP164 | Rebecca Foulger edited their review of gene: CEP164: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CDAN1 | Rebecca Foulger edited their review of gene: CDAN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Additional unpublished case with hydrops.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CAVIN1 | Rebecca Foulger edited their review of gene: CAVIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted CAVIN1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | B3GLCT | Rebecca Foulger edited their review of gene: B3GLCT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Peters-plus syndrome itself would not be picked up, but other common features can be detected pre-natally (e.g. clefting).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | B3GAT3 | Rebecca Foulger edited their review of gene: B3GAT3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ATP6V0A2 | Rebecca Foulger edited their review of gene: ATP6V0A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ASNS | Rebecca Foulger edited their review of gene: ASNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AP3B1 | Rebecca Foulger edited their review of gene: AP3B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted AP3B1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | AGRN | Rebecca Foulger edited their review of gene: AGRN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Unlikely to detect congenital myasthenia prenatally. Action taken: Demoted AGRN gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADAMTSL2 | Rebecca Foulger edited their review of gene: ADAMTSL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ADAMTS10 | Rebecca Foulger edited their review of gene: ADAMTS10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACTG2 | Rebecca Foulger edited their review of gene: ACTG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACE | Rebecca Foulger edited their review of gene: ACE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ABCA12 | Rebecca Foulger edited their review of gene: ABCA12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | WDR19 | Rebecca Foulger edited their review of gene: WDR19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | TMEM67 | Rebecca Foulger edited their review of gene: TMEM67: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | SOX9 | Rebecca Foulger edited their review of gene: SOX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RTTN | Rebecca Foulger edited their review of gene: RTTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RIT1 | Rebecca Foulger edited their review of gene: RIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RIPK4 | Rebecca Foulger edited their review of gene: RIPK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | RAPSN | Rebecca Foulger edited their review of gene: RAPSN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PTPN11 | Rebecca Foulger edited their review of gene: PTPN11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PIK3R2 | Rebecca Foulger edited their review of gene: PIK3R2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PIK3CA | Rebecca Foulger edited their review of gene: PIK3CA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PEX12 | Rebecca Foulger edited their review of gene: PEX12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | PEX1 | Rebecca Foulger edited their review of gene: PEX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | OFD1 | Rebecca Foulger edited their review of gene: OFD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NIPBL | Rebecca Foulger edited their review of gene: NIPBL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | NEB | Rebecca Foulger edited their review of gene: NEB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MYH3 | Rebecca Foulger edited their review of gene: MYH3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MUSK | Rebecca Foulger edited their review of gene: MUSK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | L1CAM | Rebecca Foulger edited their review of gene: L1CAM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KMT2D | Rebecca Foulger edited their review of gene: KMT2D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | KCTD1 | Rebecca Foulger edited their review of gene: KCTD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | HRAS | Rebecca Foulger edited their review of gene: HRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GBE1 | Rebecca Foulger edited their review of gene: GBE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FOXP3 | Rebecca Foulger edited their review of gene: FOXP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLT4 | Rebecca Foulger edited their review of gene: FLT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FLNA | Rebecca Foulger edited their review of gene: FLNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGFR3 | Rebecca Foulger edited their review of gene: FGFR3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FGFR2 | Rebecca Foulger edited their review of gene: FGFR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FANCB | Rebecca Foulger edited their review of gene: FANCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EVC2 | Rebecca Foulger edited their review of gene: EVC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DYNC2H1 | Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYP11A1 | Rebecca Foulger edited their review of gene: CYP11A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL2A1 | Rebecca Foulger edited their review of gene: COL2A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL1A2 | Rebecca Foulger edited their review of gene: COL1A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COL1A1 | Rebecca Foulger edited their review of gene: COL1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Need caution when reviewing variants in COL1A1, because different variants are associated with different phenotypes. Gain of function variants cause a more severe phenotype than LOF variants, which cause a mild phenotype.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BBS4 | Rebecca Foulger edited their review of gene: BBS4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALPL | Rebecca Foulger edited their review of gene: ALPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALG12 | Rebecca Foulger edited their review of gene: ALG12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | STAT1 | Rebecca Foulger edited their review of gene: STAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STAT1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | EIF2B3 | Rebecca Foulger edited their review of gene: EIF2B3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | BMP1 | Rebecca Foulger edited their review of gene: BMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ACTC1 | Rebecca Foulger edited their review of gene: ACTC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.132 | ASCC1 |
Julia Baptista gene: ASCC1 was added gene: ASCC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478 Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures Review for gene: ASCC1 was set to GREEN gene: ASCC1 was marked as current diagnostic Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant. Sources: Literature |
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Fetal anomalies v0.131 | IGHMBP2 | Rebecca Foulger Added comment: Comment on phenotypes: The disorder 'Neuronopathy, distal hereditary motor, type VI, 604320' is also called SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.131 | IGHMBP2 | Rebecca Foulger Phenotypes for gene: IGHMBP2 were changed from SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.127 | FARS2 | Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.126 | FARS2 |
Rebecca Foulger gene: FARS2 was added gene: FARS2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency |
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Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Marked gene: STAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.122 | STAT1 | Ellen McDonagh Added comment: Comment on list classification: This gene and phenotype were discussed in a meeting with Lyn Chitty, Anna de Burca, Richard Scott, Ellen McDonagh and Rebecca Foulger (Great Ormond Street, March 11th 2019). This gene-phenotype is not fetally-relevant. Agreed that this gene should be demoted to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.121 | MYT1 | Rebecca Foulger Phenotypes for gene: MYT1 were changed from Oculo-auriculo-vertebral spectrum (OAVS) to Oculo-auriculo-vertebral spectrum (OAVS); OAVS/Goldenhar syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.120 | MYT1 | Rebecca Foulger commented on gene: MYT1: MYT1 was added to the panel as Amber based on a 'Probable' rating in the Additional Gene list supplied by the PAGE group. Note that 'OAVS/Goldenhar syndrome' currently has a 'possible' rating in DD-G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.120 | AAAS | Ellen McDonagh Marked gene: AAAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.120 | UFC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.115 | UFC1 |
Rebecca Foulger gene: UFC1 was added gene: UFC1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: UFC1 was set to Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
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Fetal anomalies v0.115 | UFM1 |
Rebecca Foulger gene: UFM1 was added gene: UFM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
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Fetal anomalies v0.114 | AAAS | Rebecca Foulger commented on gene: AAAS: AAAS Gene and phenotype discussed at meeting with Lynn Chitty, Richard Scott and Anna De Burca (meeting at Great Ormond Street, February 27th 2019). Although microcephaly may or may not show in a prenatal setting, the advice is to leave AAAS on the fetal panel as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.114 | BRCA2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber following advice from Lynn Chitty (Professor of Genetics and Fetal Medicine, Great Ormond Street), Richard Scott and Anna De Burca (meeting at Great Ormond Street, February 27th 2019). Fanconi Anemia phenotype is fetally-relevant and BRCA2 should be on this panel with a BIALLELIC mode of inheritance (therefore excluding monoallelic variants associated with cancers). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.113 | AUTS2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Red following advice from Lynn Chitty (Professor of Genetics and Fetal Medicine, Great Ormond Street), Richard Scott and Anna De Burca (meeting at Great Ormond Street, February 27th 2019). Phenotype is not fetally-relevant, and AUTS2 should be excluded from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | ANO5 | Rebecca Foulger commented on gene: ANO5: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L in DD-G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | FMR1 | Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 is also rated 'confirmed' for MYHRE SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | SYNE1 | Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | POLD1 | Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | MYH6 | Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | LDB3 | Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | KARS | Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | DARS2 | Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | CDH1 | Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | ATP13A2 | Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | AR | Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | ALDOB | Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | AGXT | Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.109 | KARS |
Rebecca Foulger Source Expert Review Amber was added to KARS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Fetal anomalies v0.109 | DARS2 |
Rebecca Foulger Source Expert Review Amber was added to DARS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Fetal anomalies v0.109 | AR |
Rebecca Foulger Source Expert Review Amber was added to AR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Fetal anomalies v0.106 | TWIST2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both monoallelic and biallelic' to 'monoallelic'. Inheritance is recessive for Focal facial dermal dysplasia 3, Setleis type (MIM:227260) which Deirdre Cilliers notes would not present pre-natally. Inheritance is autosomal dominant for Ablepharon-macrostomia syndrome (MIM:200110) and Barber-Say syndrome (MIM:209885). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.105 | TWIST2 | Rebecca Foulger Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME to ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.103 | TWIST2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Deirdre Cilliers (OUH). Originally rated Amber based on multiple ratings for different disorders, but as Deirdre notes: Setleis would not present prenatally. Sufficient cases (>3) of Barber-Say and ablepharon-macrostomia syndrome to support causation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.102 | TWIST2 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to 'Other' based on comment by Deirdre Cilliers: gain of function for Barber-Say and ablepharon-macrostomia syndrome, which are relevant to this fetal panel. As noted in original upload, DD-G2P record a 'loss of function' mechanism for SETLEIS SYNDROME, but this wouldn't present prenatally (see comment from Deirdre Cilliers). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.101 | TWIST2 | Rebecca Foulger commented on gene: TWIST2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TWIST2 should be on the Fetal anomalies panel]. Very particular mutations which improve the chance of variant interpretation - gain of function for Barber-Say and ablepharon-macrostomia syndrome. May present with ambiguous genitalia (microarray may identify a male karyotype when thought that female genitalia were seen on scan) or talipes which may be identified, but other features not clear on scan (loss of lateral lower lip). Setleis type of focal facial dermal dysplasia would not present prenatally, although there is a small chance of an incidental finding if this gene is on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.100 | TBCE | Rebecca Foulger commented on gene: TBCE: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: No [TBCE should not be on the Fetal anomalies panel]. Would not usually present prenatally. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.100 | TBC1D20 | Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Green following comment from Deirdre Cilliers. Originally rated Amber based on multiple ratings in the PAGE upload. Sufficient cases (>3) from PMID:24239381 to support causation of Warburg micro syndrome 4 (MIM:615663), and Deirdre Cilliers confirms that phenotype is fetally-relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.98 | TBC1D20 | Rebecca Foulger commented on gene: TBC1D20: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [TBC1D20 should be on the Fetal anomalies panel]. Many of the features would be seen on ultrasound scan. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.96 | SUFU | Rebecca Foulger commented on gene: SUFU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [SUFU should be on the Fetal anomalies panel]. Joubert syndrome would present prenatally with the cerebellar vermis hypoplasia and/or polydactyly. If the test incidentally identifies the predisposition to cancer, screening would be offered early in childhood in any case, although this would be difficult news to hear in the prenatal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.95 | MITF | Rebecca Foulger commented on gene: MITF: In 2 unrelated children with coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD; 617306), whose parents exihibited features of WS2A, George et al. (2016, PMID:27889061) identified compound heterozygosity for variants in the MITF gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.94 | MITF | Rebecca Foulger Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306 to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.93 | MITF | Rebecca Foulger Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.92 | MITF | Rebecca Foulger commented on gene: MITF: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [CFC1 should be on the Fetal anomalies panel]. COMMAD would present prenatally as microphalmia and congenital cataracts would be seen on ultrasound scan as may be the macrocephaly and frontal bossing. The parents would likely exhibit the Tietz albinism deafness/Waardenburg phenotypes so would be able to interpret variants for this condition. However, some fetusses may incidentally be identified to have Tietz albinism deafness/Waardenburg phenotypes, but this may also be informative to parents, although more difficult information for them to receive. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.92 | MAGEL2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Diedre Cilliers. Originally rated Amber based on multiple ratings for multiple disorders: rated as Confirmed for Schaaf-Yang syndrome in DDG2P, with sufficient (>3) cases to support causation. PMID:26365340 (Mejlachowicz et al 2015) report 3 fetuses with Schaaf-Yang syndrome manifested as arthrogryposis multiplex congenita (AMC) and death in utero, and Diedre Cilliers confirms that phenotype is fetally relevant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.90 | MAGEL2 | Rebecca Foulger Phenotypes for gene: MAGEL2 were changed from Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA to Schaaf-Yang syndrome; ARTHROGRYPOSIS MULTIPLEX CONGENITA; Schaaf-Yang syndrome, 615547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.89 | MAGEL2 | Rebecca Foulger commented on gene: MAGEL2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [MAGEL2 should be on the Fetal anomalies panel]. The phenotype would be clear on scan and the test likely requested because of the scan findings of akinesia. Even if incidentally identified, it will be useful information for the parents, e.g. expectation of learning difficulties, if positive. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.88 | MAFB | Rebecca Foulger commented on gene: MAFB: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [Would not include MAFB on the Fetal anomalies panel]: Not usually manifesting in the prenatal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.86 | KMT2C | Rebecca Foulger commented on gene: KMT2C: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [KMT2C should be on the Fetal anomalies panel]. Structural brain malformations and digital anomalies will be seen on ultrasound scan, although there are not many patients in the literature, so difficult to know how frequent these findings are. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.85 | EMG1 | Rebecca Foulger commented on gene: EMG1: Bowen-Conradi syndrome includes marked prenatal and postnatal growth retardation, microcephaly, a prominent nose with an absent glabellar angle, micrognathia, joint abnormalities including flexion contractures, camptodactyly, rocker-bottom feet, and severe psychomotor delay (PMID:19463982). So far, one EMG1 variant (D86G) recorded for Bowen-Conradi Syndrome, with virtually all affected babies born into Hutterite families. PMID:19463982 does however report that there are at least 4 published (Russian, German, Turkish and two Indian babies) and four unpublished reports of non-Hutterite babies with BCS-compatible features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.84 | EMG1 | Rebecca Foulger commented on gene: EMG1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [EMG1 should be on the Fetal anomalies panel]. There are structural findings that will be identified on ultrasound scan, namely IUGR, microcephaly, cleft lip and hypospadias (even rocker bottom feet can sometimes be identified on ultrasound scan, although testing would not be offered for this in isolation). These findings are less frequent in the condition, but will be ascertained prenatally. Poor outcome also and this would be useful information for parents to consider in pregnancy – although it is a rare condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.83 | DNAH5 | Rebecca Foulger commented on gene: DNAH5: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [DNAH5 should be on the Fetal anomalies panel]. The prenatal phenotype would be heterotaxy and often seen on ultrasound scan and about half of affected pregnancies with this mutation would have this phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.83 | DNAH5 | Rebecca Foulger Phenotypes for gene: DNAH5 were changed from CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644 to CILIARY DYSKINESIA, PRIMARY, 3; Primary ciliary dyskinesia 608644; heterotaxy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.81 | DEAF1 | Rebecca Foulger commented on gene: DEAF1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Probably not [include DEAF1 on the Fetal anomalies panel] if the panel was requested only for fetal structural anomalies. Difficult to decide as one would like to make this diagnosis prenatally. However, no structural features on ultrasound scan and this would make variant interpretation difficult – especially as some of the mutations have been missense mutations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.81 | EDAR | Rebecca Foulger Classified gene: EDAR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.81 | EDAR | Rebecca Foulger Gene: edar has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.80 | EDAR | Rebecca Foulger commented on gene: EDAR: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [EDAR should not be on the Fetal anomalies panel]. The AD and AR ectodermal dysplasia are not going to present as structural anomalies on scan and it would be difficult if there is a VUS present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.80 | EDAR | Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.77 | IFIH1 | Rebecca Foulger Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME to AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.76 | IFIH1 | Rebecca Foulger Added comment: Comment on publications: PMID:25542954 describes a prenatal diagnosis of Aicardi-Goutières syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.75 | IFIH1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' after discussion with Genomics England clinical fellows: monoallelic form is associated with cardiovascular features so risk of incidental findings with monoallelic recorded inheritance. Further advice came from Deidre Cilliers Oxford University Hospitals who notes: I would report biallelic inheritance in the known genes with an AR inheritance pattern as there is a high recurrence risk for the family, e.g. AGS caused by TREX1 and there is a clear prenatal phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.74 | IFIH1 | Rebecca Foulger commented on gene: IFIH1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [IFIH1 should be on the Fetal anomalies panel]. Aicardi-Goutieres is often missed in the prenatal period as it is assumed that there is congenital infection present (even if testing negative). When reading through the cases in the literature, I think that later ultrasound scans in pregnancy might have identified some of the IFIH1 mutations in addition to the more commonly found TREX1. I have had two families in the past 2 years where I suggested the diagnosis in the prenatal period, although in one family with two affected pregnancies we never found the mutations. However, the phenotype is also clear on ultrasound scan as it looks like infection and the screen for this is negative. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.74 | ARCN1 | Rebecca Foulger Publications for gene: ARCN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.73 | ARCN1 | Rebecca Foulger Phenotypes for gene: ARCN1 were changed from Microcephalic dwarfism to Microcephalic dwarfism; Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.72 | ARCN1 | Rebecca Foulger commented on gene: ARCN1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [ARCN1 should be on the Fetal anomalies panel]. All [patients from PMID:27476655] have a degree of developmental delay, although most were mildy affected (useful for parents to have this information). Microcephaly and IUGR will be seen on ultrasound scan as well as structural anomalies, e.g. diaphragmatic hernia, VSD and severe micrognathia (some of these patients may need a paediatrician at birth for airway management as some have required tracheostomies). Cleft palate would likely be missed in most cases on ultrasound scan. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.72 | ARCN1 | Rebecca Foulger commented on gene: ARCN1: Additional information to support Green rating: 4 patients from 3 families in Izumi et al., 27476655, 2016 of patients with Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay. All individuals had short stature but just 2 families (subjects 3 and 4 are related) with microcephaly. Genomics England Clinical team (Helen Brittain) notes that IUGR is listed as a feature therefore could present in a fetus, also a smattering of structural malformations e.g. CHD / cleft which might also be detected in utero so probably OK to include. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.71 | TPM2 | Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1; Arthrogryposis multiplex congenita, distal, type 1, 108120; Arthrogryposis, distal, type 2B, 601680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.70 | TPM2 | Rebecca Foulger commented on gene: TPM2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TPM2 should be on the Fetal anomalies panel]. Distal arthrogryposis is seen relatively frequently on ultrasound scan. Often a diagnosis is of help as it gives information about the chance (or not) of learning difficulties when there is a diagnosis of arthrogryposis in the feta’s. The phenotype is also relatively straightforward to identify on ultrasound scan and this would make variant interpretation better. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.70 | KYNU | Rebecca Foulger commented on gene: KYNU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Only 2 cases – amber (although for me it would be a yes for the reasons below). Ultrasound findings, although variable in the condition, may be identified, e.g. short long bones, hypoplastic Lt heart, VU reflux, talipes, dysplastic kidney and absent kidney. Combinations of these features would make interpretation of a variant possible. Also, the reported variants so far were truncating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.70 | HAAO | Rebecca Foulger commented on gene: HAAO: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Only 2 cases – amber (although for me it would be a yes for the reasons below). Ultrasound findings, although variable in the condition, may be identified, e.g. short long bones, hypoplastic Lt heart, VU reflux, talipes, dysplastic kidney and absent kidney. Combinations of these features would make interpretation of a variant possible. Also, the reported variants so far were truncating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.68 | CHRNA1 | Rebecca Foulger commented on gene: CHRNA1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CHRNA1 should be on the Fetal anomalies panel]. The phenotype would be clear on ultrasound scan and variant interpretation would be easier because of this. In general, arthrogryposis can be variable, but the extent would be relatively obvious on scan and would be the reason for the test request. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.68 | CHRNA1 | Rebecca Foulger commented on gene: CHRNA1: Additional information to support Green rating: Rated Green on Arthrogryposis panel, and Green on 'Neuromuscular disorders' and 'Congenital myaesthenic syndrome' panels also. 2 unrelated cases in OMIM of CHRNA1 variants causing LETHAL-type multiple pterygium syndrome from PMID:18252226 (2008). Plus a 2018 paper (PMID:30177536) reporting a homozygous CHRNA1 variant in a child who had reduced fetal movements during pregnancy, polyhydramnios and arthrogryposis multiplex congenita (AMC). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.67 | CFC1 | Rebecca Foulger Phenotypes for gene: CFC1 were changed from CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS; Heterotaxy, visceral, 2, autosomal, 605376 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.66 | CFC1 | Rebecca Foulger commented on gene: CFC1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [CFC1 should be on the Fetal anomalies panel]. The phenotype would easily be seen on ultrasound scan and such a result would give the parents good information about the pregnancy and also help allow variant interpretation. It would let them know that the intellect is likely normal and they can then concentrate on the particular cardiac problem only. If incidentally identified, ultrasound scans can be offered in pregnancy. Also, one of the patients [in PMID:11062482] had an absent corpus callosum, although it may have been an incidental finding. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.66 | CFC1 | Rebecca Foulger commented on gene: CFC1: Further information on evidence for Green rating: Reviewed as Green on the 'Familial non syndromic congenital heart disease' panel in relation to heterotaxy phenotype. 3 cases in OMIM cases to support causation of 'Heterotaxy, visceral, 2, autosomal, 605376' although incomplete penetrance (with phenotypically-normal parent carrying the variant) seen in two cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | NOTCH1 | Rebecca Foulger edited their review of gene: NOTCH1: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Clefting', 'Skeletal dysplasia' and 'Limb disorders' panels. Sufficient evidence for causation: >3 unrelated cases reported for variants in NOTCH1 causing Adams-Oliver type 5 syndrome, as reviewed on the 'Limb disorders' panel.; Changed rating: GREEN; Changed publications: 27077170, 25132448, 25963545; Changed phenotypes: Adams-Oliver syndrome 5, 616028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | USP18 | Rebecca Foulger edited their review of gene: USP18: Added comment: Rated as 'Probable' in original PAGE list. Rated green on 'Intracerebral calcification disorders' panel and phenotype (pseudo-TORCH syndrome) is appropriate for Fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). However, kept rating as Amber for now based on insufficient evidence to support causation: One publication (Meuwissen et al. 2016, PMID:27325888) with two families (Turkish and German) with pseudo-TORCH syndrome-2 and homozygous or compound het variants in USP18. Segregation shown in 5 affected individuals plus an unaffected sibling. Cells from patients in both families showed complete absence of the USP18 protein.; Changed publications: 27325888; Changed phenotypes: Pseudo-TORCH syndrome 2, 617397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | TRIP4 | Rebecca Foulger edited their review of gene: TRIP4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Paediatric motor neuronopathies' and 'Neuromuscular disorders' panels. Sufficient cases from one paper to support causation: 5 patients from 3 unrelated families (from Kosovo and Albania) with spinal muscular atrophy with congenital bone fractures-1 (MIM:616866) where Knierim et al. (2016, PMID:26924529) identified homozygous or compound het truncating variants in the TRIP4 gene.; Changed rating: GREEN; Changed publications: 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 1, 616866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | TBX18 | Rebecca Foulger edited their review of gene: TBX18: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'CAKUT' panel with the phenotype 'Congenital anomalies of kidney and urinary tract 2'. Sufficient cases to support association from one paper:PMID:26235987 (2015) shows variants in 3 unrelated families with a variety of renal malformations.; Changed rating: GREEN; Changed publications: 26235987; Changed phenotypes: Congenital anomalies of kidney and urinary tract 2, 143400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | TAPT1 | Rebecca Foulger edited their review of gene: TAPT1: Added comment: Rated as 'Probable' in original PAGE list. Rated Green on the Osteogenesis imperfecta V1.14 panel, and phenotype (COMPLEX LETHAL OSTEOCHONDRODYSPLASIA) is appropriate for Fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). However, kept rating as Amber for now based on insufficient evidence to support causation: 2 families (Moroccan and Syrian) reported in OMIM with no further cases identified from the literature.; Changed publications: 26365339; Changed phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | RBPJ | Rebecca Foulger edited their review of gene: RBPJ: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia' and 'Limb disorders' panels with the 'Adams-Oliver syndrome 3, 614219' phenotype. Sufficient cases to support causation: 2 families reported in OMIM from PMID:22883147, plus additional cases of RBPJ variants causing Adams-Oliver syndrome 3 in PMID:28160419.; Changed rating: GREEN; Changed publications: 22883147, 28160419; Changed phenotypes: Adams-Oliver syndrome 3, 614814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | LGI4 | Rebecca Foulger edited their review of gene: LGI4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis', 'Congenital myopathy', 'Neuromuscular disorders' and 'Intellectual disability' panels. Sufficient evidence to support causation: 4 unrelated families with neurogenic arthrogryposis multiplex congenita with myelin defect (MIM:617468) and homozygous/compound heterozygous LGI4 variants from PMID:28318499 (Xue et al 2017).; Changed rating: GREEN; Changed publications: 28318499; Changed phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | GLDN | Rebecca Foulger edited their review of gene: GLDN: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis' panel, and 4 families assocaited with 'Lethal congenital contracture syndrome 11, 617194' phenotype in OMIM, all from PMID:27616481 (Maluenda 2016).; Changed rating: GREEN; Changed publications: 27616481; Changed phenotypes: Lethal congenital contracture syndrome 11, 617194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | EPHB4 | Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Primary lymphoedema' panel. Sufficient evidence to support hydrops fetalis association as part of MIM:617300, with 3 variants listed in OMIM from 3 families, each with multiple affected individuals (PMIDs:27400125 and 29905864).; Changed rating: GREEN; Changed publications: 27400125, 29905864; Changed phenotypes: Lymphatic malformation 7, 617300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | DOCK6 | Rebecca Foulger edited their review of gene: DOCK6: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders' panels with the 'Adams-Oliver syndrome 2, 614219' phenotype. Sufficient (>3) unrelated cases in OMIM of DOCK6 variants associated with MIM:614219.; Changed rating: GREEN; Changed publications: 23522784, 25824905, 21820096; Changed phenotypes: Adams-Oliver syndrome 2, 614219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | CNTNAP1 | Rebecca Foulger edited their review of gene: CNTNAP1: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Arthrogryposis' V2.37 panel, and 4 families in OMIM associated with LETHAL CONGENITAL CONTRACTURE SYNDROME 7 (from PMID:24319099/Laquerriere et al 2014).; Changed rating: GREEN; Changed publications: 24319099; Changed phenotypes: Lethal congenital contracture syndrome 7, 616286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | ARHGAP31 | Rebecca Foulger edited their review of gene: ARHGAP31: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated green on the 'Skeletal dysplasia', 'Clefting', and 'Limb disorders panels with the 'Adams-Oliver syndrome 1, 100300' phenotype. 2 variants reported for MIM:100300 in OMIM from PMID:21565291, plus another case in Meester et al (2018) (PMID:29924900).; Changed rating: GREEN; Changed publications: 21565291, 29924900; Changed phenotypes: Adams-Oliver syndrome 1, 100300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.63 | AKT3 | Rebecca Foulger edited their review of gene: AKT3: Added comment: Additional details for change of rating from Amber ('probable' PAGE rating) to Green: Phenotype is fetally-relevant, and rated Green on the 'Hydrocephalus', 'Malformations of cortical development' and 'Segmental overgrowth disorders' panels. Sufficient evidence to support causation: 3 AKT3 variants and multiple unrelated cases documented on OMIM to support association with 'Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937'.; Changed rating: GREEN; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.61 | OPHN1 | Louise Daugherty Phenotypes for gene: OPHN1 were changed from MENTAL RETARDATION X-LINKED OPHN1-RELATED to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.60 | SIL1 | Louise Daugherty Phenotypes for gene: SIL1 were changed from MARINESCO-SJOEGREN SYNDROME to Marinesco-Sjogren syndrome, 248800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.58 | TSEN54 | Louise Daugherty Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.57 | COQ8A | Louise Daugherty Phenotypes for gene: COQ8A were changed from COENZYME Q10 DEFICIENCY to Coenzyme Q10 deficiency, primary 4, 612016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.55 | ATAD3A | Rebecca Foulger Mode of pathogenicity for gene: ATAD3A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.51 | ATAD3A | Rebecca Foulger Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.50 | PIEZO1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Anna's suggestion of biallelic MOI is based on Lymphatic malformation 6 phenotype (MIM:616843) which has AR inheritance and fetally-relevant phenotype. After further discussion we agreed to include AD inheritance for PIEZO1 based on reviews on the Fetal hydrops panel: in summary, PMID:26333996 (Fotiou et al., 2015) reports that NIHF variably occurs in DHS (with AD inheritance), and a review by Tessa Homfray lists both AD and AR inheritance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.45 | ITPR1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.44 | ACTB | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review and email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. As summarised by Anna there is good evidence for GOF variants causing Baraitser-Winter syndrome plus some evidence for LOF variants associated (in some cases) with structural anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.43 | ACTB | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Anna notes that there is good evidence for GOF variants causing Baraitser-Winter syndrome but there is also a paper from DDD (PMID:29220674) reporting LOF variants associated predominantly with developmental delay but in some cases structural anomalies including congenital heart defects and/or CAKUT- this may not be a severe enough prenatal phenotype for inclusion in a fetal panel but overall Anna notes that it is probably reasonable to report any variants in this gene, whether GOF or LOF. Therefore no exception to LOF was added to the MOP section. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.40 | ERCC4 | Rebecca Foulger Phenotypes for gene: ERCC4 were changed from XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F to XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; PRIMORDIAL DWARFISM; XERODERMA PIGMENTOSUM, GROUP F; Xeroderma pigmentosum, group F, 278760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.38 | TCTN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Anna notes that TCTN1 is Green on the 'Rare multisystem ciliopathy disorders' panel with Joubert syndrome phenotype, and therefore Green rating is appropriate for this Fetal anomalies panel. 3 cases from the literature to support Green rating: Two Bangladeshi sisters in PMID:21725307 with homozgyous variant in TCTN1. A compound het variant from PMID:26477546 in a male fetus, and PMID:26489806 report an additional compound het case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.35 | IL11RA | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following email correspondance from Anna de Burca. Originally assigned an Amber rating because of different PAGE/DDG2P ratings for different disorders. Rated as 'Confirmed' for AR Craniosynostosis. As noted by Anna, IL11RA is Green on the Craniosynostosis panel, so Green rating also appropriate for Fetal Anomalies panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.34 | ATAD3A | Anna de Burca commented on gene: ATAD3A: PMID: 27640307 reports a recurrent de novo variant in ATAD3A in five unrelated individuals with developmental delay and hypotonia. Some individuals had peripheral neuropathy, optic atrophy and hypertrophic cardiomyopathy. A toxic gain of function mechanism was postulated. PMID: 28327206 reports an additional case with the same de novo variant. This individual had delayed motor development and hypotonia. PMID: 27640307 also reports a biallelic missense variant in siblings of distantly related parents with motor and speech delay, hypotonia, cerebellar atrophy, ataxia, seizures, muscle weakness, cataracts and optic nerve hypoplasia. There is insufficient evidence for this association at present. Therefore, this gene should be classified green with regard to monoallelic gain of function only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.34 | ATAD3A | Anna de Burca reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 27640307, 28327206; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.34 | ACTB | Anna de Burca reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22366783, 29220674, 26275891; Phenotypes: Baraitser-Winter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.34 | PIEZO1 | Anna de Burca reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26333996, 23695678; Phenotypes: Lymphatic malformation 6, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.32 | TRIP4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Rated Green on 'Paediatric motor neuronopathies' panel based on sufficient cases, zebrafish model and Green review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.31 | TPM2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ARTHROGRYPOSIS, DISTAL, TYPE 1 ) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). 2 unrelated cases listed in OMIM for ARTHROGRYPOSIS disorders- TPM2 is Green on the Arthrogryposis panel based on these cases plus two Green reviews. Therefore reasonable to promote to Green on this fetal panel based on ARTHROGRYPOSIS phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.29 | TBX18 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Sufficient unrelated cases (3) listed in OMIM and summarised in the gene review on the CAKUT panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.28 | RBPJ | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ADAMS OLIVER SYNDROME) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). Although OMIM lists 2 unrelated cases, further cases supporting causation are provided in PMID:28160419, as detailed on the 'Limb disorders' panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.24 | LGI4 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (ARTHROGRYPOSIS MULTIPLEX CONGENITA) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.23 | KYNU | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MIM:617661) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). The literature evidence amounts to 2 unrelated patients with vertebral, cardiac, renal, and limb defects syndrome-2 (MIM:617661) and variants in HAAO (Shi et al. 2017, PMID:28792876) plus mouse model of embryonic defects from the same paper. However, the comment on the 'VACTERL-like phenotypes' and 'CAKUT' panels states "Confirmed with the clinical team that this gene has enough evidence to be green". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.22 | HAAO | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MIM:617660) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). The literature evidence amounts to 2 unrelated patients, each born of consanguineous parents, with vertebral, cardiac, renal, and limb defects syndrome-1 (MIM:617660) and homozygous truncating variants in HAAO (Shi et al. 2017, PMID:28792876). However, the comment on the 'VACTERL-like phenotypes', 'Undiagnosed metabolic disorders' and 'CAKUT' panels states "Confirmed with the clinical team that this gene has enough evidence to be green". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.21 | GLDN | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Lethal arthroogryposis) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.16 | CFC1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.15 | ARHGAP31 | Rebecca Foulger Classified gene: ARHGAP31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.15 | ARHGAP31 | Rebecca Foulger Gene: arhgap31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.14 | ARHGAP31 | Rebecca Foulger Classified gene: ARHGAP31 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.14 | ARHGAP31 | Rebecca Foulger Gene: arhgap31 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.13 | ARCN1 | Rebecca Foulger Classified gene: ARCN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.13 | ARCN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Microcephalic dwarfism) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.13 | ARCN1 | Rebecca Foulger Gene: arcn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ZC4H2 | Rebecca Foulger commented on gene: ZC4H2: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | YWHAG | Rebecca Foulger commented on gene: YWHAG: DDG2P rating in original PAGE list: Probable for Early-Onset Epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | WWOX | Rebecca Foulger commented on gene: WWOX: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 and Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | VSX2 | Rebecca Foulger commented on gene: VSX2: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 and Confirmed for MICROPHTHALMIA ISOLATED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | USP9X | Rebecca Foulger commented on gene: USP9X: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 99 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TUBB3 | Rebecca Foulger commented on gene: TUBB3: DDG2P rating in original PAGE list: Probable for CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES and Probable for CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TTI2 | Rebecca Foulger commented on gene: TTI2: DDG2P rating in original PAGE list: Probable for AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TTC8 | Rebecca Foulger commented on gene: TTC8: DDG2P rating in original PAGE list: Confirmed for RETINITIS PIGMENTOSA TYPE 51 and Confirmed for BARDET-BIEDL SYNDROME TYPE 8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TSEN34 | Rebecca Foulger commented on gene: TSEN34: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TSEN2 | Rebecca Foulger commented on gene: TSEN2: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TSEN15 | Rebecca Foulger commented on gene: TSEN15: DDG2P rating in original PAGE list: Probable for Pontocerebellar Hypoplasia and Progressive Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TRIM32 | Rebecca Foulger commented on gene: TRIM32: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 11 and Confirmed for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TPM2 | Rebecca Foulger commented on gene: TPM2: DDG2P rating in original PAGE list: Probable for ARTHROGRYPOSIS, DISTAL, TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TP63 | Rebecca Foulger commented on gene: TP63: DDG2P rating in original PAGE list: Confirmed for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Confirmed for SPLIT-HAND/FOOT MALFORMATION TYPE 4, Confirmed for ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Confirmed for NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, Confirmed for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Confirmed for ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME and Confirmed for LIMB-MAMMARY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | THOC2 | Rebecca Foulger commented on gene: THOC2: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, X-LINKED 12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TFAP2B | Rebecca Foulger commented on gene: TFAP2B: DDG2P rating in original PAGE list: Confirmed for CHAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TBC1D24 | Rebecca Foulger commented on gene: TBC1D24: DDG2P rating in original PAGE list: Confirmed for NON SYNDROMAL HEARING LOSS, Confirmed for MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, and Confirmed for DOORS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | TAB2 | Rebecca Foulger commented on gene: TAB2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | STAR | Rebecca Foulger reviewed gene: STAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ST3GAL3 | Rebecca Foulger commented on gene: ST3GAL3: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SRCAP | Rebecca Foulger commented on gene: SRCAP: DDG2P rating in original PAGE list: Confirmed for FLOATING-HARBOR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SPTAN1 | Rebecca Foulger commented on gene: SPTAN1: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SPARC | Rebecca Foulger commented on gene: SPARC: DDG2P rating in original PAGE list: Probable for OSTEOGENESIS IMPERFECTA, TYPE XVII | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SOX3 | Rebecca Foulger commented on gene: SOX3: DDG2P rating in original PAGE list: Confirmed for SEX REVERSAL TYPE 3 and Confirmed for MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SOX11 | Rebecca Foulger commented on gene: SOX11: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SOX10 | Rebecca Foulger commented on gene: SOX10: DDG2P rating in original PAGE list: Confirmed for PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, Confirmed for YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME, Confirmed for WAARDENBURG SYNDROME TYPE 2E, Confirmed for KALLMANN SYNDROME WITH DEAFNESS and Confirmed for WAARDENBURG SYNDROME TYPE 4C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SMARCE1 | Rebecca Foulger commented on gene: SMARCE1: DDG2P rating in original PAGE list: Probable for COFFIN SIRIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SMARCB1 | Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SMARCAL1 | Rebecca Foulger reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SMARCA4 | Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SMARCA2 | Rebecca Foulger commented on gene: SMARCA2: DDG2P rating in original PAGE list: Confirmed for COFFIN SIRIS and Confirmed for NICOLAIDES-BARAITSER SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC6A17 | Rebecca Foulger commented on gene: SLC6A17: DDG2P rating in original PAGE list: Probable for MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC39A8 | Rebecca Foulger commented on gene: SLC39A8: DDG2P rating in original PAGE list: Confirmed for Intellectual Disability with Cerebellar Atrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC25A4 | Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC25A24 | Rebecca Foulger commented on gene: SLC25A24: DDG2P rating in original PAGE list: Confirmed for Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC25A22 | Rebecca Foulger commented on gene: SLC25A22: DDG2P rating in original PAGE list: Probable for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SHH | Rebecca Foulger commented on gene: SHH: DDG2P rating in original PAGE list: Confirmed for TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME, Confirmed for MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5, Confirmed for SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR and Confirmed for HOLOPROSENCEPHALY TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SCN8A | Rebecca Foulger commented on gene: SCN8A: DDG2P rating in original PAGE list: Confirmed for COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA and Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SCN4A | Rebecca Foulger commented on gene: SCN4A: DDG2P rating in original PAGE list: Confirmed for HYPOKALEMIC PERIODIC PARALYSIS, Confirmed for HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 and Confirmed for PARAMYOTONIA CONGENITA OF VON EULENBURG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SCARF2 | Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RPS23 | Rebecca Foulger commented on gene: RPS23: DDG2P rating in original PAGE list: Probable for Microcephaly, hearing loss, and dysmorphic features | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RNU4ATAC | Rebecca Foulger commented on gene: RNU4ATAC: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RARS2 | Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RARB | Rebecca Foulger commented on gene: RARB: DDG2P rating in original PAGE list: Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA and Confirmed for MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | QARS | Rebecca Foulger commented on gene: QARS: DDG2P rating in original PAGE list: Probable for MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PTPN11 | Rebecca Foulger commented on gene: PTPN11: DDG2P rating in original PAGE list: Confirmed for LEOPARD SYNDROME TYPE 1 and Confirmed for NOONAN SYNDROME 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PTH1R | Rebecca Foulger commented on gene: PTH1R: DDG2P rating in original PAGE list: Confirmed for PRIMARY FAILURE OF TOOTH ERUPTION, Confirmed for JANSEN METAPHYSEAL CHONDRODYSPLASIA, Confirmed for EIKEN SKELETAL DYSPLASIA, and Confirmed for CHONDRODYSPLASIA BLOMSTRAND TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PTF1A | Rebecca Foulger commented on gene: PTF1A: DDG2P rating in original PAGE list: Confirmed for DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS and Confirmed for PANCREATIC AGENESIS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PTDSS1 | Rebecca Foulger commented on gene: PTDSS1: DDG2P rating in original PAGE list: Confirmed for LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PRPS1 | Rebecca Foulger commented on gene: PRPS1: DDG2P rating in original PAGE list: Confirmed for CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5, Confirmed for DEAFNESS X-LINKED TYPE 1, Confirmed for PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY and Confirmed for ARTS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PRKD1 | Rebecca Foulger commented on gene: PRKD1: DDG2P rating in original PAGE list: Confirmed for Syndromic congenital heart defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PRKAR1A | Rebecca Foulger commented on gene: PRKAR1A: DDG2P rating in original PAGE list: Confirmed for ACRODYSOSTOSIS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PPP1CB | Rebecca Foulger commented on gene: PPP1CB: DDG2P rating in original PAGE list: Confirmed for Rasopathy with developmental delay, short stature and sparse slow-growing hair | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PPA2 | Rebecca Foulger commented on gene: PPA2: DDG2P rating in original PAGE list: Confirmed for Sudden arrhythmic cardiac death after infectious or alcohol trigger | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | POMGNT1 | Rebecca Foulger commented on gene: POMGNT1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3, Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3, and Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | POLR3B | Rebecca Foulger commented on gene: POLR3B: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PNPT1 | Rebecca Foulger commented on gene: PNPT1: DDG2P rating in original PAGE list: Confirmed for RESPIRATORY CHAIN DISORDER and Confirmed for HEARING LOSS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PLP1 | Rebecca Foulger commented on gene: PLP1: DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY HYPOMYELINATING TYPE 1 and Confirmed for SPASTIC PARAPLEGIA X-LINKED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PLCB4 | Rebecca Foulger commented on gene: PLCB4: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PITX3 | Rebecca Foulger commented on gene: PITX3: DDG2P rating in original PAGE list: Confirmed for CATARACT POSTERIOR POLAR TYPE 4, Confirmed for ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS and Confirmed for CATARACT AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PITX1 | Rebecca Foulger commented on gene: PITX1: DDG2P rating in original PAGE list: Probable for HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS and Probable for CONGENITAL CLUBFOOT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: DDG2P rating in original PAGE list: Confirmed for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, Confirmed for HEMIMEGALENCEPHALY PIK3CA and Confirmed for MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PIGV | Rebecca Foulger commented on gene: PIGV: DDG2P rating in original PAGE list: Confirmed for HYPERPHOSPHATASIA WITH MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PDSS1 | Rebecca Foulger commented on gene: PDSS1: DDG2P rating in original PAGE list: Probable for COENZYME Q10 DEFICIENCY, PRIMARY, 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PAX6 | Rebecca Foulger commented on gene: PAX6: DDG2P rating in original PAGE list: Confirmed for KERATITIS HEREDITARY, Confirmed for COLOBOMA OF OPTIC NERVE, Confirmed for PETERS ANOMALY, Confirmed for FOVEAL HYPOPLASIA, Confirmed for BILATERAL OPTIC NERVE HYPOPLASIA, Confirmed for ANIRIDIA and Confirmed for ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PARN | Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PAK3 | Rebecca Foulger commented on gene: PAK3: DDG2P rating in original PAGE list: Confirmed for AGENESIS OF THE CORPUS CALLOSUM and Confirmed for MENTAL RETARDATION X-LINKED TYPE 30. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | P4HB | Rebecca Foulger commented on gene: P4HB: DDG2P rating in original PAGE list: Probable for COLE-CARPENTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | OSGEP | Rebecca Foulger commented on gene: OSGEP: DDG2P rating in original PAGE list: Probable for Nephrotic syndrome with primary microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NOG | Rebecca Foulger commented on gene: NOG: DDG2P rating in original PAGE list: Confirmed for SYMPHALANGISM PROXIMAL SYNDROME, Confirmed for STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, Confirmed for MULTIPLE SYNOSTOSES SYNDROME TYPE 1, Confirmed for TARSAL-CARPAL COALITION SYNDROME, and Confirmed for BRACHYDACTYLY TYPE B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NKX2-5 | Rebecca Foulger commented on gene: NKX2-5: DDG2P rating in original PAGE list: Confirmed for ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, Confirmed for TETRALOGY OF FALLOT, and Confirmed for CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NEDD4L | Rebecca Foulger commented on gene: NEDD4L: DDG2P rating in original PAGE list: Probable for Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NALCN | Rebecca Foulger commented on gene: NALCN: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, Confirmed for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES, and Confirmed for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | NACC1 | Rebecca Foulger commented on gene: NACC1: DDG2P rating in original PAGE list: Confirmed for Infantile Epilepsy, Cataracts, and Profound Developmental Delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MYH3 | Rebecca Foulger commented on gene: MYH3: DDG2P rating in original PAGE list: Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B and Confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MSX2 | Rebecca Foulger commented on gene: MSX2: DDG2P rating in original PAGE list: Confirmed for ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM and Confirmed for CRANIOSYNOSTOSIS, TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MFSD2A | Rebecca Foulger commented on gene: MFSD2A: DDG2P rating in original PAGE list: Confirmed for MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MECP2 | Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MECOM | Rebecca Foulger commented on gene: MECOM: DDG2P rating in original PAGE list: Probable for Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAP3K7 | Rebecca Foulger commented on gene: MAP3K7: DDG2P rating in original PAGE list: Probable for Cardiospondylocarpofacial syndrome and Probable for FRONTOMETAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAP2K2 | Rebecca Foulger commented on gene: MAP2K2: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAP2K1 | Rebecca Foulger commented on gene: MAP2K1: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAN1B1 | Rebecca Foulger commented on gene: MAN1B1: DDG2P rating in original PAGE list: Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAF | Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | LIPT1 | Rebecca Foulger commented on gene: LIPT1: DDG2P rating in original PAGE list: Probable for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | LARS2 | Rebecca Foulger commented on gene: LARS2: DDG2P rating in original PAGE list: Probable for PERRAULT SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | LARP7 | Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | LARGE1 | Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KRAS | Rebecca Foulger commented on gene: KRAS: DDG2P rating in original PAGE list: Confirmed for CARDIOFACIOCUTANEOUS SYNDROME and Confirmed for NOONAN SYNDROME TYPE 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KLHL7 | Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KIF7 | Rebecca Foulger commented on gene: KIF7: DDG2P rating in original PAGE list: Confirmed for ACROCALLOSAL SYNDROME and Confirmed for AUTOSOMAL RECESSIVE MENTAL RETARDATION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KIF1A | Rebecca Foulger commented on gene: KIF1A: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, and Confirmed for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KCTD1 | Rebecca Foulger commented on gene: KCTD1: DDG2P rating in original PAGE list: Confirmed for SCALP-EAR-NIPPLE SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KCNT1 | Rebecca Foulger commented on gene: KCNT1: DDG2P rating in original PAGE list: Confirmed for MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY and Confirmed for SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KCNH1 | Rebecca Foulger commented on gene: KCNH1: DDG2P rating in original PAGE list: Probable for TEMPLE BARRAISTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KCNC3 | Rebecca Foulger commented on gene: KCNC3: DDG2P rating in original PAGE list: Probable for SPINOCEREBELLAR ATAXIA TYPE 13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KCNB1 | Rebecca Foulger commented on gene: KCNB1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KAT6B | Rebecca Foulger commented on gene: KAT6B: DDG2P rating in original PAGE list: Confirmed for BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE and Confirmed for GENITOPATELLAR SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | IRX5 | Rebecca Foulger commented on gene: IRX5: DDG2P rating in original PAGE list: Probable for HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | IQSEC2 | Rebecca Foulger commented on gene: IQSEC2: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | INPP5K | Rebecca Foulger commented on gene: INPP5K: DDG2P rating in original PAGE list: Probable for Muscular dystrophy, congenital, with cataracts and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | INPP5E | Rebecca Foulger commented on gene: INPP5E: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS and Confirmed for JOUBERT SYNDROME TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | IARS | Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HUWE1 | Rebecca Foulger commented on gene: HUWE1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HSF4 | Rebecca Foulger commented on gene: HSF4: DDG2P rating in original PAGE list: Confirmed for CATARACT MARNER TYPE and Confirmed for CATARACT ZONULAR HSF4-RELATED. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HSD17B10 | Rebecca Foulger commented on gene: HSD17B10: DDG2P rating in original PAGE list: Confirmed for 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY and Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HR | Rebecca Foulger commented on gene: HR: DDG2P rating in original PAGE list: Confirmed for ALOPECIA UNIVERSALIS and Confirmed for ATRICHIA WITH PAPULAR LESIONS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HOXB1 | Rebecca Foulger commented on gene: HOXB1: DDG2P rating in original PAGE list: Probable for FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HMGCS2 | Rebecca Foulger commented on gene: HMGCS2: DDG2P rating in original PAGE list: Confirmed for 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HCN1 | Rebecca Foulger commented on gene: HCN1: DDG2P rating in original PAGE list: Confirmed for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HCFC1 | Rebecca Foulger commented on gene: HCFC1: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION, X-LINKED 3 and Confirmed for COBALAMIN DISORDER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GUCY2C | Rebecca Foulger commented on gene: GUCY2C: DDG2P rating in original PAGE list: Confirmed for MECONIUM ILEUS and Confirmed for FAMILIAL DIARRHEA DIARRHEA 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GRIN2B | Rebecca Foulger commented on gene: GRIN2B: DDG2P rating in original PAGE list: Confirmed for AUTISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, and Confirmed for EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GNAS | Rebecca Foulger commented on gene: GNAS: DDG2P rating in original PAGE list: Confirmed for PSEUDOHYPOPARATHYROIDISM TYPE 1B, Confirmed for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, Confirmed for ALBRIGHT HEREDITARY OSTEODYSTROPHY and Confirmed for GNAS HYPERFUNCTION. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GNAI3 | Rebecca Foulger commented on gene: GNAI3: DDG2P rating in original PAGE list: Confirmed for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GNA14 | Rebecca Foulger commented on gene: GNA14: DDG2P rating in original PAGE list: Probable for Congenital vascular tumours | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GMPPB | Rebecca Foulger commented on gene: GMPPB: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GMNN | Rebecca Foulger commented on gene: GMNN: DDG2P rating in original PAGE list: Probable for Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GLE1 | Rebecca Foulger commented on gene: GLE1: DDG2P rating in original PAGE list: Confirmed for ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GJC2 | Rebecca Foulger commented on gene: GJC2: DDG2P rating in original PAGE list: Confirmed for LYMPHEDEMA, HEREDITARY, IC, Confirmed for SPASTIC PARAPLEGIA, 44 and Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GJB2 | Rebecca Foulger commented on gene: GJB2: DDG2P rating in original PAGE list: Confirmed for DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A, Confirmed for PALMOPLANTAR KERATODERMA WITH DEAFNESS, Confirmed for ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME, Confirmed for VOHWINKEL SYNDROME and Confirmed for BART-PUMPHREY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GJA8 | Rebecca Foulger commented on gene: GJA8: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT TYPE 1 and Confirmed for CATARACT-MICROCORNEA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GJA3 | Rebecca Foulger commented on gene: GJA3: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GJA1 | Rebecca Foulger commented on gene: GJA1: DDG2P rating in original PAGE list: Confirmed for HALLERMANN-STREIFF SYNDROME, Confirmed for HYPOPLASTIC LEFT HEART SYNDROME, Confirmed for AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, and Confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GCDH | Rebecca Foulger commented on gene: GCDH: DDG2P rating in original PAGE list: Confirmed for GLUTARICACIDEMIA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | GATA6 | Rebecca Foulger commented on gene: GATA6: DDG2P rating in original PAGE list: Confirmed for ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIAL SEPTAL DEFECT 9, and Confirmed for PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FOXE1 | Rebecca Foulger commented on gene: FOXE1: DDG2P rating in original PAGE list: Confirmed for BAMFORTH-LAZARUS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FLNB | Rebecca Foulger commented on gene: FLNB: DDG2P rating in original PAGE list: Confirmed for SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Confirmed for BOOMERANG DYSPLASIA, Confirmed for AUTOSOMAL DOMINANT LARSEN SYNDROME, Confirmed for ATELOSTEOGENESIS TYPE 3 and Confirmed for ATELOSTEOGENESIS TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FLNA | Rebecca Foulger commented on gene: FLNA: DDG2P rating in original PAGE list: Confirmed for OTOPALATODIGITAL SYNDROME TYPE 1, Confirmed for EPILEPTIC ENCEPHALOPATHY, Confirmed for TERMINAL OSSEOUS DYSPLASIA, Confirmed for MELNICK-NEEDLES SYNDROME, Confirmed for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, Confirmed for OTOPALATODIGITAL SYNDROME TYPE 2, Confirmed for FRONTOMETAPHYSEAL DYSPLASIA, Confirmed for FG SYNDROME TYPE 2 and Confirmed for PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FGFR3 | Rebecca Foulger commented on gene: FGFR3: DDG2P rating in original PAGE list: Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for MUENKE SYNDROME, Confirmed for CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, Confirmed for ACHONDROPLASIA, Confirmed for THANATOPHORIC DYSPLASIA TYPE 2, Confirmed for CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME, Confirmed for HYPOCHONDROPLASIA, and Confirmed for THANATOPHORIC DYSPLASIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FGFR2 | Rebecca Foulger commented on gene: FGFR2: DDG2P rating in original PAGE list: Confirmed for CROUZON SYNDROME, Confirmed for APERT SYNDROME, Confirmed for LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME, Confirmed for FAMILIAL SCAPHOCEPHALY SYNDROME, Confirmed for JACKSON-WEISS SYNDROME, Confirmmed for ANTLEY-BIXLER SYNDROME, Confirmed for BEARE-STEVENSON CUTIS GYRATA SYNDROME, and Confirmed for ACROCEPHALOSYNDACTYLY TYPE V. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FGFR1 | Rebecca Foulger commented on gene: FGFR1: DDG2P rating in original PAGE list: Confirmed for OSTEOGLOPHONIC DYSPLASIA, Confirmed for KALLMANN SYNDROME TYPE 2, Confirmed for PFEIFFER SYNDROME, Confirmed for IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM, Confirmed for Encephalocraniocutaneous lipomatosis, and Confirmed for Hartsfield syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FBN2 | Rebecca Foulger commented on gene: FBN2: DDG2P rating in original PAGE list: Confirmed for CONGENITAL CONTRACTURAL ARACHNODACTYLY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FBN1 | Rebecca Foulger commented on gene: FBN1: DDG2P rating in original PAGE list: Confirmed for biallelic and monoallelic MARFAN SYNDROME, Confirmed for SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and Confirmed for MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FAR1 | Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | EXOSC3 | Rebecca Foulger commented on gene: EXOSC3: DDG2P rating in original PAGE list: Confirmed for PONTOCEREBELLAR HYPOPLASIA TYPE 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ERF | Rebecca Foulger commented on gene: ERF: DDG2P rating in original PAGE list: Confirmed for COMPLEX CRANIOSYNOSTOSIS and Confirmed for Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | EMC1 | Rebecca Foulger commented on gene: EMC1: DDG2P rating in original PAGE list: Probable for monoallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy and Probable for biallelic Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | EDN1 | Rebecca Foulger commented on gene: EDN1: DDG2P rating in original PAGE list: Probable for AURICULOCONDYLAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | EDAR | Rebecca Foulger commented on gene: EDAR: DDG2P rating in original PAGE list: Confirmed for Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | DYNC1H1 | Rebecca Foulger commented on gene: DYNC1H1: DDG2P rating in original PAGE list: Confirmed for SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD and Confirmed for SEVERE ID WITH NEURONAL MIGRATION DISORDER. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | DPAGT1 | Rebecca Foulger commented on gene: DPAGT1: DDG2P rating in original PAGE list: Confirmed for MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 and Confirmed for DPAGT1-CDG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | DNAAF5 | Rebecca Foulger commented on gene: DNAAF5: DDG2P rating in original PAGE list: Probable for CILIARY DYSKINESIA, PRIMARY, 18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | DARS | Rebecca Foulger commented on gene: DARS: DDG2P rating in original PAGE list: Confirmed for HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | DAG1 | Rebecca Foulger commented on gene: DAG1: DDG2P rating in original PAGE list: Confirmed for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CYP1B1 | Rebecca Foulger commented on gene: CYP1B1: DDG2P rating in original PAGE list: Confirmed for PRIMARY CONGENITAL GLAUCOMA TYPE 3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CYC1 | Rebecca Foulger commented on gene: CYC1: DDG2P rating in original PAGE list: Confirmed for MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYGD | Rebecca Foulger commented on gene: CRYGD: DDG2P rating in original PAGE list: Confirmed for CATARACT CONGENITAL CERULEAN TYPE 3 and Confirmed for CATARACT AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYBB3 | Rebecca Foulger commented on gene: CRYBB3: DDG2P rating in original PAGE list: Confirmed for CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYBB2 | Rebecca Foulger commented on gene: CRYBB2: DDG2P rating in original PAGE list: Confirmed for CATARACT, COPPOCK-LIKE and Confirmed for CATARACT, CONGENITAL, CERULEAN TYPE, 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYBA4 | Rebecca Foulger commented on gene: CRYBA4: DDG2P rating in original PAGE list: Confirmed for CATARACT ZONULAR TYPE 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRYAA | Rebecca Foulger commented on gene: CRYAA: DDG2P rating in original PAGE list: Confirmed for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 and Confirmed for CATARACT, NUCLEAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CRADD | Rebecca Foulger commented on gene: CRADD: DDG2P rating in original PAGE list: Probable for Megalencephaly with Variant Lissencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | COMP | Rebecca Foulger commented on gene: COMP: DDG2P rating in original PAGE list: Confirmed for ARE THE CAUSE OF PSEUDOACHONDROPLASIA and Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | COL2A1 | Rebecca Foulger commented on gene: COL2A1: DDG2P rating in original PAGE list: Confirmed for KNIEST DYSPLASIA, Confirmed for ACHONDROGENESIS TYPE 2, Confirmed for PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE, Confirmed for STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR, Confirmed for SPONDYLOPERIPHERAL DYSPLASIA, Confirmed for SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE, Confirmed for RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT and Confirmed for SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CLP1 | Rebecca Foulger commented on gene: CLP1: DDG2P rating in original PAGE list: Probable for PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CLDN19 | Rebecca Foulger commented on gene: CLDN19: DDG2P rating in original PAGE list: Confirmed for HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CIT | Rebecca Foulger commented on gene: CIT: DDG2P rating in original PAGE list: Probable for PRIMARY MICROCEPHALY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | C21orf59 | Rebecca Foulger commented on gene: C21orf59: DDG2P rating in original PAGE list: Probable for PRIMARY CILIARY DYSKINESIA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CDK13 | Rebecca Foulger commented on gene: CDK13: DDG2P rating in original PAGE list: Confirmed for Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | FAM58A | Rebecca Foulger commented on gene: FAM58A: DDG2P rating in original PAGE list: Confirmed for STAR SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CASK | Rebecca Foulger commented on gene: CASK: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 and Confirmed for MRX WITH/WITHOUT NYSTAGMUS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CARS2 | Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | CACNA1D | Rebecca Foulger commented on gene: CACNA1D: DDG2P rating in original PAGE list: Probable for SINOATRIAL NODE DYSFUNCTION AND DEAFNESS and Probable for PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | C1QBP | Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | BRAF | Rebecca Foulger commented on gene: BRAF: DDG2P rating in original PAGE list: Confirmed for NOONAN SYNDROME TYPE 7, Confirmed for LEOPARD SYNDROME TYPE 3, and Confirmed for CARDIOFACIOCUTANEOUS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | BICD2 | Rebecca Foulger commented on gene: BICD2: DDG2P rating in original PAGE list: Confirmed for PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | BFSP2 | Rebecca Foulger commented on gene: BFSP2: DDG2P rating in original PAGE list: Confirmed for CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ATP7A | Rebecca Foulger commented on gene: ATP7A: DDG2P rating in original PAGE list: Confirmed for OCCIPITAL HORN SYNDROME, Confirmed for SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 and Confirmed for MENKES DISEASE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ASAH1 | Rebecca Foulger commented on gene: ASAH1: DDG2P rating in original PAGE list: Confirmed for FARBER LIPOGRANULOMATOSIS and Confirmed for SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARX | Rebecca Foulger commented on gene: ARX: DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARSB | Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARSA | Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARMC9 | Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARMC4 | Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARL6 | Rebecca Foulger commented on gene: ARL6: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 3 and Confirmed for RETINITIS PIGMENTOSA TYPE 55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARL13B | Rebecca Foulger reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARID2 | Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARID1B | Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARID1A | Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARHGAP31 | Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARG1 | Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARFGEF2 | Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ARCN1 | Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ALDH18A1 | Rebecca Foulger commented on gene: ALDH18A1: DDG2P rating in original PAGE list: Confirmed for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Confirmed for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, and Confirmed for CUTIS LAXA, AUTOSOMAL DOMINANT 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ACTG1 | Rebecca Foulger commented on gene: ACTG1: DDG2P rating in original PAGE list: Confirmed for BARAITSER-WINTER SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | ABL1 | Rebecca Foulger commented on gene: ABL1: DDG2P rating in original PAGE list: Probable for Congenital heart defects and skeletal malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | AARS | Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | SPTLC2 | Rebecca Foulger commented on gene: SPTLC2: Rating in original PAGE file: 'both DD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | SMCHD1 | Rebecca Foulger commented on gene: SMCHD1: Rating in original PAGE file: 'both DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Rating in original PAGE file: 'both DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD and RENAL TUBULAR ACIDOSIS, DISTAL, AR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | POLD1 | Rebecca Foulger commented on gene: POLD1: Rating in original PAGE file: 'both DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | MYH8 | Rebecca Foulger commented on gene: MYH8: Rating in original PAGE file: 'both DD and IF' for CARNEY COMPLEX VARIANT and DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | MYH6 | Rebecca Foulger commented on gene: MYH6: Rating in original PAGE file: 'both DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3, CARDIOMYOPATHY DILATED TYPE 1EE and CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | LMNA | Rebecca Foulger commented on gene: LMNA: Rating in original PAGE file: 'both DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A, CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM, FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, HUTCHINSON-GILFORD PROGERIA SYNDROME, MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED, MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B, LETHAL TIGHT SKIN CONTRACTURE SYNDROME and HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | LDB3 | Rebecca Foulger commented on gene: LDB3: Rating in original PAGE file: 'both DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3 and CARDIOMYOPATHY DILATED TYPE 1C and MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | KARS | Rebecca Foulger commented on gene: KARS: Rating in original PAGE file: 'both DD and IF' for both CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B and DEAFNESS, AUTOSOMAL RECESSIVE 89. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | DARS2 | Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | CDH1 | Rebecca Foulger commented on gene: CDH1: Rating in original PAGE file: 'both DD and IF' for Blepharo-cheiro-dontic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | AR | Rebecca Foulger commented on gene: AR: Rating in original PAGE file: 'both DD and IF' for both SPINAL AND BULBAR MUSCULAR ATROPHY and ANDROGEN INSENSITIVITY SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | ANO5 | Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.6 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'Both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.6 | ANO5 | Rebecca Foulger commented on gene: ANO5: Rating in original PAGE file: 'Both DD and IF' for both MIYOSHI MUSCULAR DYSTROPHY TYPE 3 and GNATHODIAPHYSEAL DYSPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.5 | SMAD4 | Rebecca Foulger commented on gene: SMAD4: Multiple ratings in original PAGE file: rated as confirmed for MYHRE SYNDROME. Rated as both DD and IF for: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME and JUVENILE POLYPOSIS SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.5 | FMR1 | Rebecca Foulger commented on gene: FMR1: Multiple ratings in original PAGE file: rated as confirmed for FRAGILE X SYNDROME. Rated as both DD and IF for: PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 and FRAGILE X TREMOR/ATAXIA SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PIK3CA | Rebecca Foulger commented on gene: PIK3CA: Mosaicism tag added based on original PAGE file which records Mosaic MOI for CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI, HEMIMEGALENCEPHALY PIK3CA and MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | GNA14 | Rebecca Foulger commented on gene: GNA14: Mosaicism tag added based on original PAGE file which records Mosaic MOI for Congenital vascular tumours. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | GNAS | Rebecca Foulger commented on gene: GNAS: Mosaicism tag added based on original PAGE file which records Mosaic MOI for ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | C2orf71 | Rebecca Foulger commented on gene: C2orf71: Added new-gene-name tag, new approved HGNC gene symbol is PCARE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | EDAR | Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | ARX | Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | KARS | Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | ARL6 | Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | AR | Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | RARB | Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | SPARC | Rebecca Foulger reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | SMARCE1 | Rebecca Foulger reviewed gene: SMARCE1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | QARS | Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | LARS2 | Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | DARS | Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | SMARCA2 | Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | PRKAR1A | Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | ZNF711 |
Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED |
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Fetal anomalies v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 |
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Fetal anomalies v0.1 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 |
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Fetal anomalies v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED |
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Fetal anomalies v0.1 | ZC4H2 | Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY for gene: ZC4H2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | YWHAG |
Rebecca Foulger gene: YWHAG was added gene: YWHAG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy |
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Fetal anomalies v0.1 | YAP1 |
Rebecca Foulger gene: YAP1 was added gene: YAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION |
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Fetal anomalies v0.1 | XYLT2 |
Rebecca Foulger gene: XYLT2 was added gene: XYLT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME |
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Fetal anomalies v0.1 | XRCC4 |
Rebecca Foulger gene: XRCC4 was added gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM |
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Fetal anomalies v0.1 | WWOX | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 for gene: WWOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 |
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Fetal anomalies v0.1 | WDR62 |
Rebecca Foulger gene: WDR62 was added gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION |
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Fetal anomalies v0.1 | WDPCP |
Rebecca Foulger gene: WDPCP was added gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 |
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Fetal anomalies v0.1 | WASHC5 |
Rebecca Foulger gene: WASHC5 was added gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210 |
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Fetal anomalies v0.1 | VSX2 |
Rebecca Foulger gene: VSX2 was added gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES |
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Fetal anomalies v0.1 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 |
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Fetal anomalies v0.1 | VPS53 |
Rebecca Foulger gene: VPS53 was added gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744; 12920088 Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 |
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Fetal anomalies v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 |
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Fetal anomalies v0.1 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 |
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Fetal anomalies v0.1 | USP9X | Rebecca Foulger Added phenotypes MENTAL RETARDATION, X-LINKED 99 for gene: USP9X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 |
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Fetal anomalies v0.1 | UPF3B |
Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 |
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Fetal anomalies v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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Fetal anomalies v0.1 | UGT1A1 |
Rebecca Foulger gene: UGT1A1 was added gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I |
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Fetal anomalies v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME |
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Fetal anomalies v0.1 | UBE3B |
Rebecca Foulger gene: UBE3B was added gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION |
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Fetal anomalies v0.1 | UBE2A |
Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION |
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Fetal anomalies v0.1 | UBA1 |
Rebecca Foulger gene: UBA1 was added gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830 |
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Fetal anomalies v0.1 | TWIST2 |
Rebecca Foulger gene: TWIST2 was added gene: TWIST2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME |
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Fetal anomalies v0.1 | TUSC3 |
Rebecca Foulger gene: TUSC3 was added gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 |
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Fetal anomalies v0.1 | TUBGCP6 |
Rebecca Foulger gene: TUBGCP6 was added gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION |
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Fetal anomalies v0.1 | TUBB3 |
Rebecca Foulger gene: TUBB3 was added gene: TUBB3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES |
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Fetal anomalies v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | TTC8 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 for gene: TTC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
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Fetal anomalies v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 |
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Fetal anomalies v0.1 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly |
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Fetal anomalies v0.1 | TRPM1 |
Rebecca Foulger gene: TRPM1 was added gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C |
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Fetal anomalies v0.1 | TRIP4 |
Rebecca Foulger gene: TRIP4 was added gene: TRIP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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Fetal anomalies v0.1 | TRIP13 |
Rebecca Foulger gene: TRIP13 was added gene: TRIP13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
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Fetal anomalies v0.1 | TRIM32 | Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H for gene: TRIM32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 |
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Fetal anomalies v0.1 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE |
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Fetal anomalies v0.1 | TRAPPC9 |
Rebecca Foulger gene: TRAPPC9 was added gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 |
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Fetal anomalies v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA |
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Fetal anomalies v0.1 | TRAPPC11 |
Rebecca Foulger gene: TRAPPC11 was added gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S |
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Fetal anomalies v0.1 | TRAIP |
Rebecca Foulger gene: TRAIP was added gene: TRAIP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM |
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Fetal anomalies v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 |
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Fetal anomalies v0.1 | TP63 | Rebecca Foulger Added phenotypes LIMB-MAMMARY SYNDROME for gene: TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TP63 | Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE for gene: TP63 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TOE1 |
Rebecca Foulger gene: TOE1 was added gene: TOE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA |
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Fetal anomalies v0.1 | TNNI2 |
Rebecca Foulger gene: TNNI2 was added gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680 |
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Fetal anomalies v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 |
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Fetal anomalies v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
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Fetal anomalies v0.1 | TMEM260 |
Rebecca Foulger gene: TMEM260 was added gene: TMEM260 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome |
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Fetal anomalies v0.1 | TMCO1 |
Rebecca Foulger gene: TMCO1 was added gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | TKT |
Rebecca Foulger gene: TKT was added gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
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Fetal anomalies v0.1 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
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Fetal anomalies v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 |
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Fetal anomalies v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2B were set to CHAR SYNDROME |
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Fetal anomalies v0.1 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS |
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Fetal anomalies v0.1 | TBX3 |
Rebecca Foulger gene: TBX3 was added gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME |
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Fetal anomalies v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 |
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Fetal anomalies v0.1 | TBCE | Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TBCE | Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy |
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Fetal anomalies v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS |
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Fetal anomalies v0.1 | TBC1D23 |
Rebecca Foulger gene: TBC1D23 was added gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia |
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Fetal anomalies v0.1 | TBC1D20 |
Rebecca Foulger Source PAGE Additional Gene List was added to TBC1D20. Added phenotypes Warburg micro syndrome 4 615663 for gene: TBC1D20 |
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Fetal anomalies v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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Fetal anomalies v0.1 | TAZ |
Rebecca Foulger gene: TAZ was added gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to BARTH SYNDROME |
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Fetal anomalies v0.1 | TANGO2 |
Rebecca Foulger gene: TANGO2 was added gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
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Fetal anomalies v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 |
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Fetal anomalies v0.1 | SYP |
Rebecca Foulger gene: SYP was added gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED |
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Fetal anomalies v0.1 | SYNGAP1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 for gene: SYNGAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SYNE1 | Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 for gene: SYNE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS |
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Fetal anomalies v0.1 | STXBP1 | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 for gene: STXBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 |
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Fetal anomalies v0.1 | STAR |
Rebecca Foulger gene: STAR was added gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA |
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Fetal anomalies v0.1 | STAMBP |
Rebecca Foulger gene: STAMBP was added gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME |
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Fetal anomalies v0.1 | ST3GAL3 |
Rebecca Foulger gene: ST3GAL3 was added gene: ST3GAL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
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Fetal anomalies v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME |
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Fetal anomalies v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
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Fetal anomalies v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 |
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Fetal anomalies v0.1 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 |
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Fetal anomalies v0.1 | SPEG |
Rebecca Foulger gene: SPEG was added gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY |
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Fetal anomalies v0.1 | SPATA5 |
Rebecca Foulger gene: SPATA5 was added gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII |
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Fetal anomalies v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
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Fetal anomalies v0.1 | SOX3 | Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY for gene: SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 |
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Fetal anomalies v0.1 | SOX10 | Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 4C for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SOX10 | Rebecca Foulger Added phenotypes WAARDENBURG SYNDROME TYPE 2E for gene: SOX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE |
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Fetal anomalies v0.1 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA |
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Fetal anomalies v0.1 | SNRPB |
Rebecca Foulger gene: SNRPB was added gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME |
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Fetal anomalies v0.1 | SMN1 |
Rebecca Foulger gene: SMN1 was added gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300 |
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Fetal anomalies v0.1 | SMCHD1 |
Rebecca Foulger gene: SMCHD1 was added gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome |
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Fetal anomalies v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMARCB1 | Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME for gene: SMARCB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 |
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Fetal anomalies v0.1 | SMARCAL1 |
Rebecca Foulger gene: SMARCAL1 was added gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
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Fetal anomalies v0.1 | SMARCA4 | Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 for gene: SMARCA4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SMARCA4 |
Rebecca Foulger gene: SMARCA4 was added gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMARCA2 | Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME for gene: SMARCA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMAD4 | Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME for gene: SMAD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE |
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Fetal anomalies v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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Fetal anomalies v0.1 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE |
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Fetal anomalies v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 |
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Fetal anomalies v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES |
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Fetal anomalies v0.1 | SLC4A1 | Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD |
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Fetal anomalies v0.1 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION |
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Fetal anomalies v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy |
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Fetal anomalies v0.1 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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Fetal anomalies v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME |
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Fetal anomalies v0.1 | SLC26A3 |
Rebecca Foulger gene: SLC26A3 was added gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700 |
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Fetal anomalies v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
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Fetal anomalies v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction |
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Fetal anomalies v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 |
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Fetal anomalies v0.1 | SLC25A20 |
Rebecca Foulger gene: SLC25A20 was added gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
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Fetal anomalies v0.1 | SLC22A5 |
Rebecca Foulger gene: SLC22A5 was added gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY |
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Fetal anomalies v0.1 | SLC12A1 |
Rebecca Foulger gene: SLC12A1 was added gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678 |
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Fetal anomalies v0.1 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME |
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Fetal anomalies v0.1 | SHH | Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR for gene: SHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME |
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Fetal anomalies v0.1 | SGSH |
Rebecca Foulger gene: SGSH was added gene: SGSH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A |
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Fetal anomalies v0.1 | SGCA |
Rebecca Foulger gene: SGCA was added gene: SGCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099 |
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Fetal anomalies v0.1 | SETD5 |
Rebecca Foulger gene: SETD5 was added gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 |
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Fetal anomalies v0.1 | SELENON |
Rebecca Foulger gene: SELENON was added gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 |
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Fetal anomalies v0.1 | SCYL1 |
Rebecca Foulger gene: SCYL1 was added gene: SCYL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
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Fetal anomalies v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY |
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Fetal anomalies v0.1 | SCN8A | Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
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Fetal anomalies v0.1 | SCN4A | Rebecca Foulger Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SCN4A | Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS |
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Fetal anomalies v0.1 | SCARF2 |
Rebecca Foulger gene: SCARF2 was added gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME |
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Fetal anomalies v0.1 | SASS6 |
Rebecca Foulger gene: SASS6 was added gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 24951542 Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402 |
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Fetal anomalies v0.1 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME |
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Fetal anomalies v0.1 | SALL4 |
Rebecca Foulger gene: SALL4 was added gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME |
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Fetal anomalies v0.1 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
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Fetal anomalies v0.1 | RTN4IP1 |
Rebecca Foulger gene: RTN4IP1 was added gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
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Fetal anomalies v0.1 | RSPH9 |
Rebecca Foulger gene: RSPH9 was added gene: RSPH9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650 |
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Fetal anomalies v0.1 | RSPH4A |
Rebecca Foulger gene: RSPH4A was added gene: RSPH4A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649 |
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Fetal anomalies v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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Fetal anomalies v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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Fetal anomalies v0.1 | RPS23 |
Rebecca Foulger gene: RPS23 was added gene: RPS23 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features |
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Fetal anomalies v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR |
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Fetal anomalies v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I |
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Fetal anomalies v0.1 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 |
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Fetal anomalies v0.1 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 |
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Fetal anomalies v0.1 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 |
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Fetal anomalies v0.1 | RMRP |
Rebecca Foulger gene: RMRP was added gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA |
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Fetal anomalies v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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Fetal anomalies v0.1 | RFX6 |
Rebecca Foulger gene: RFX6 was added gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME |
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Fetal anomalies v0.1 | RETREG1 |
Rebecca Foulger gene: RETREG1 was added gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB |
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Fetal anomalies v0.1 | REN |
Rebecca Foulger gene: REN was added gene: REN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430 |
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Fetal anomalies v0.1 | RBM10 |
Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP SYNDROME |
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Fetal anomalies v0.1 | RASA1 | Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION for gene: RASA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME |
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Fetal anomalies v0.1 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 |
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Fetal anomalies v0.1 | RARB | Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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Fetal anomalies v0.1 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME |
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Fetal anomalies v0.1 | RAB3GAP1 |
Rebecca Foulger gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS |
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Fetal anomalies v0.1 | RAB18 |
Rebecca Foulger gene: RAB18 was added gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | QARS |
Rebecca Foulger gene: QARS was added gene: QARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY |
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Fetal anomalies v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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Fetal anomalies v0.1 | PXDN |
Rebecca Foulger gene: PXDN was added gene: PXDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
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Fetal anomalies v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION |
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Fetal anomalies v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM |
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Fetal anomalies v0.1 | PTF1A |
Rebecca Foulger gene: PTF1A was added gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS |
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Fetal anomalies v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM |
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Fetal anomalies v0.1 | PRX |
Rebecca Foulger gene: PRX was added gene: PRX was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895 |
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Fetal anomalies v0.1 | PRSS12 |
Rebecca Foulger gene: PRSS12 was added gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 |
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Fetal anomalies v0.1 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | PRPS1 | Rebecca Foulger Added phenotypes ARTS SYNDROME for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 |
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Fetal anomalies v0.1 | PROP1 |
Rebecca Foulger gene: PROP1 was added gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
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Fetal anomalies v0.1 | PRMT7 |
Rebecca Foulger gene: PRMT7 was added gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder |
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Fetal anomalies v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects |
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Fetal anomalies v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS |