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Fetal anomalies v3.164 ORC6 Arina Puzriakova Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, OMIM:613803
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 v3.161 TRAIP Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, OMIM:616777
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 v3.159 CDC6 Arina Puzriakova Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805
Fetal anomalies v3.158 CDT1 Arina Puzriakova Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804
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
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 v3.157 PLD1 Arina Puzriakova Classified gene: PLD1 as Green List (high evidence)
Fetal anomalies v3.157 PLD1 Arina Puzriakova Added comment: 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.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Gene: pld1 has been classified as Green List (High Evidence).
Fetal anomalies v3.156 PLD1 Arina Puzriakova Tag Q2_24_demote_red tag was added to gene: PLD1.
Tag Q2_24_expert_review tag was added to gene: PLD1.
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
Fetal anomalies v3.156 GLI3 Arina Puzriakova Phenotypes for gene: GLI3 were changed from PALLISTER-HALL SYNDROME; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PREAXIAL POLYDACTYLY TYPE IV; POSTAXIAL POLYDACTYLY TYPE A to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700
Fetal anomalies v3.155 GRM1 Arina Puzriakova Classified gene: GRM1 as Red List (low evidence)
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 v3.155 GRM1 Arina Puzriakova Gene: grm1 has been classified as Red List (Low Evidence).
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 v3.153 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Fetal anomalies v3.152 NRXN2 Sarah Leigh Classified gene: NRXN2 as Red List (low evidence)
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 v3.152 NRXN2 Sarah Leigh Gene: nrxn2 has been classified as Red List (Low Evidence).
Fetal anomalies v3.151 RRAS Sarah Leigh Tag Q2_24_promote_green tag was added to gene: RRAS.
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 v3.151 RRAS Sarah Leigh Added comment: Comment on phenotypes: Phenotype from Gen2Phen
Fetal anomalies v3.151 RRAS Sarah Leigh Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to RRAS-related atypical Noonan syndrome
Fetal anomalies v3.150 RRAS Sarah Leigh Publications for gene: RRAS were set to
Fetal anomalies v3.149 NRXN2 Sarah Leigh Publications for gene: NRXN2 were set to
Fetal anomalies v3.147 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
Fetal anomalies v3.147 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731
Fetal anomalies v3.146 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
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 v3.144 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880; 29194579; 35227688
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880
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.
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Mode of inheritance for gene: ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.141 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from tetralogy of Fallot and septal defects to Tetralogy of Fallot and septal defects; Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v3.140 ROBO1 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: ROBO1.
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 v3.139 CCBE1 Arina Puzriakova Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
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 v3.136 EFNB1 Arina Puzriakova Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, OMIM:304110
Fetal anomalies v3.135 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Fetal anomalies v3.135 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.134 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Fetal anomalies v3.134 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Fetal anomalies v3.133 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v3.130 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency 266200 to Pyruvate kinase deficiency, OMIM:266200
Fetal anomalies v3.129 MYLK Arina Puzriakova Phenotypes for gene: MYLK were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; MMIH to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Fetal anomalies v3.128 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, OMIM; 145900 to Dejerine-Sottas disease, OMIM:145900
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.
Fetal anomalies v3.126 PRX Arina Puzriakova Mode of inheritance for gene: PRX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.125 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Deleted their comment
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v3.124 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
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 MED12 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Fetal anomalies v3.122 KIDINS220 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: KIDINS220.
Tag Q2_21_expert_review was removed from gene: KIDINS220.
Tag Q2_21_MOI was removed from gene: KIDINS220.
Fetal anomalies v3.122 LIFR Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: LIFR.
Tag Q2_22_expert_review was removed from gene: LIFR.
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 v3.121 NSMF Arina Puzriakova Mode of pathogenicity for gene: NSMF was changed from to Other
Fetal anomalies v3.120 NSMF Arina Puzriakova Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism 9 with or without anosmia 614838 to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Fetal anomalies v3.119 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Fetal anomalies v3.118 ESAM Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from intracranial hemorrhage; cerebral anomalies to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Fetal anomalies v3.117 ESAM Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, PMID:36996813 reported foetal intracranial hemorrhage in four foetuses from three unrelated families. Hence, there is sufficient evidence for this gene to be promoted to green rating in this panel in the next GMS review.
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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)).
Fetal anomalies v3.115 FAM111A Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.114 FAM111A Sarah Leigh Publications for gene: FAM111A were set to
Fetal anomalies v3.111 C1QBP Eleanor Williams commented on gene: C1QBP
Fetal anomalies v3.111 C1QBP Eleanor Williams Tag Q2_23_promote_green was removed from gene: C1QBP.
Tag Q2_23_NHS_review was removed from gene: C1QBP.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2: Removed the Q2_23_promote_green tag as has now been promoted to green.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2.
Fetal anomalies v3.111 TRIT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1.
Fetal anomalies v3.111 NDUFAF8 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDUFAF8.
Fetal anomalies v3.111 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Fetal anomalies v3.111 ROBO1 Arina Puzriakova Tag gene-checked was removed from gene: ROBO1.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag gene-checked tag was added to gene: CDX2.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2
Fetal anomalies v3.111 ECHS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1.
Tag Q2_23_NHS_review was removed from gene: ECHS1.
Fetal anomalies v3.111 GATB Sarah Leigh Tag Q2_23_promote_green was removed from gene: GATB.
Tag Q2_23_NHS_review was removed from gene: GATB.
Fetal anomalies v3.111 IBA57 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IBA57.
Tag Q2_23_NHS_review was removed from gene: IBA57.
Fetal anomalies v3.111 KIF21A Sarah Leigh Tag Q2_23_promote_green was removed from gene: KIF21A.
Tag Q2_23_NHS_review was removed from gene: KIF21A.
Fetal anomalies v3.111 MECOM Sarah Leigh Tag Q2_23_promote_green was removed from gene: MECOM.
Tag Q2_23_NHS_review was removed from gene: MECOM.
Fetal anomalies v3.111 MTFMT Sarah Leigh Tag Q2_23_promote_green was removed from gene: MTFMT.
Tag Q2_23_NHS_review was removed from gene: MTFMT.
Fetal anomalies v3.111 MYL9 Sarah Leigh Tag Q2_23_promote_green was removed from gene: MYL9.
Fetal anomalies v3.111 NDUFA6 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6.
Tag Q2_23_NHS_review was removed from gene: NDUFA6.
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFAF8.
Tag Q2_23_NHS_review was removed from gene: NDUFAF8.
Fetal anomalies v3.111 NDUFB10 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB10.
Tag Q2_23_NHS_review was removed from gene: NDUFB10.
Fetal anomalies v3.111 NDUFB3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3.
Tag Q2_23_NHS_review was removed from gene: NDUFB3.
Fetal anomalies v3.111 NDUFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFS1.
Tag Q2_23_NHS_review was removed from gene: NDUFS1.
Fetal anomalies v3.111 PC Sarah Leigh Tag Q2_23_promote_green was removed from gene: PC.
Tag Q2_23_NHS_review was removed from gene: PC.
Fetal anomalies v3.111 PDHB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB.
Tag Q2_23_NHS_review was removed from gene: PDHB.
Fetal anomalies v3.111 PDHX Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX.
Tag Q2_23_NHS_review was removed from gene: PDHX.
Fetal anomalies v3.111 PET100 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PET100.
Tag Q2_23_NHS_review was removed from gene: PET100.
Fetal anomalies v3.111 PLXND1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PLXND1.
Fetal anomalies v3.111 PNPLA8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PNPLA8.
Tag Q2_23_NHS_review was removed from gene: PNPLA8.
Fetal anomalies v3.111 PRKACA Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACA.
Fetal anomalies v3.111 PRKACB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACB.
Fetal anomalies v3.111 QRSL1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: QRSL1.
Tag Q2_23_NHS_review was removed from gene: QRSL1.
Fetal anomalies v3.111 RAB11A Sarah Leigh Tag Q2_23_promote_green was removed from gene: RAB11A.
Tag Q2_23_NHS_review was removed from gene: RAB11A.
Fetal anomalies v3.111 RMND1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: RMND1.
Tag Q2_23_NHS_review was removed from gene: RMND1.
Fetal anomalies v3.111 SCUBE3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3.
Tag Q2_23_NHS_review was removed from gene: SCUBE3.
Fetal anomalies v3.111 SLC25A46 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46.
Tag Q2_23_NHS_review was removed from gene: SLC25A46.
Fetal anomalies v3.111 TK2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2.
Tag Q2_23_NHS_review was removed from gene: TK2.
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1.
Tag Q2_23_NHS_review was removed from gene: UQCRFS1.
Fetal anomalies v3.111 WLS Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ZMYM2.
Tag Q2_23_NHS_review was removed from gene: ZMYM2.
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.
Fetal anomalies v3.111 DNA2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNA2.
Tag Q2_23_NHS_review was removed from gene: DNA2.
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.
Fetal anomalies v3.111 COQ7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: COQ7.
Tag Q2_23_NHS_review was removed from gene: COQ7.
Fetal anomalies v3.111 CLCN4 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CLCN4.
Tag Q2_23_NHS_review was removed from gene: CLCN4.
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 C19orf70 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70.
Tag Q2_23_NHS_review was removed from gene: C19orf70.
Fetal anomalies v3.111 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Fetal anomalies v3.111 AGTR1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1.
Tag Q2_23_NHS_review was removed from gene: AGTR1.
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.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 TK2 Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RMND1 Sarah Leigh reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RAB11A Sarah Leigh reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 QRSL1 Sarah Leigh reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PRKACB Sarah Leigh reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 PRKACA Sarah Leigh reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 PNPLA8 Sarah Leigh reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PLXND1 Sarah Leigh reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PET100 Sarah Leigh reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHX Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHB Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PC Sarah Leigh reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFS1 Sarah Leigh reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB3 Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFA6 Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MYL9 Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MTFMT Sarah Leigh reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v3.111 IBA57 Sarah Leigh reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 GATB Sarah Leigh reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ECHS1 Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 DNA2 Sarah Leigh reviewed gene: DNA2: 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 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; 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 v3.111 CDX2 Sarah Leigh reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 C1QBP Sarah Leigh reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 C19orf70 Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AGTR1 Sarah Leigh reviewed gene: AGTR1: 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 KDM5C Sarah Leigh Tag Q4_22_MOI was removed from gene: KDM5C.
Fetal anomalies v3.110 ZMYM2 Sarah Leigh Source Expert Review Green was added to ZMYM2.
Source NHS GMS was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 WLS Sarah Leigh Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 UQCRFS1 Sarah Leigh Source Expert Review Green was added to UQCRFS1.
Source NHS GMS was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 TK2 Sarah Leigh Source Expert Review Green was added to TK2.
Source NHS GMS was added to TK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SLC25A46 Sarah Leigh Source Expert Review Green was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SCUBE3 Sarah Leigh Source Expert Review Green was added to SCUBE3.
Source NHS GMS was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RMND1 Sarah Leigh Source Expert Review Green was added to RMND1.
Source NHS GMS was added to RMND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RAB11A Sarah Leigh Source Expert Review Green was added to RAB11A.
Source NHS GMS was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Source NHS GMS was added to QRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACB Sarah Leigh Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACA Sarah Leigh Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Source NHS GMS was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PLXND1 Sarah Leigh Source Expert Review Green was added to PLXND1.
Source NHS GMS was added to PLXND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PET100 Sarah Leigh Source Expert Review Green was added to PET100.
Source NHS GMS was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHX Sarah Leigh Source Expert Review Green was added to PDHX.
Source NHS GMS was added to PDHX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHB Sarah Leigh Source Expert Review Green was added to PDHB.
Source NHS GMS was added to PDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PC Sarah Leigh Source Expert Review Green was added to PC.
Source NHS GMS was added to PC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFS1 Sarah Leigh Source Expert Review Green was added to NDUFS1.
Source NHS GMS was added to NDUFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB3 Sarah Leigh Source Expert Review Green was added to NDUFB3.
Source NHS GMS was added to NDUFB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB10 Sarah Leigh Source Expert Review Green was added to NDUFB10.
Source NHS GMS was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFAF8 Sarah Leigh Source Expert Review Green was added to NDUFAF8.
Source NHS GMS was added to NDUFAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Source NHS GMS was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MYL9 Sarah Leigh Source Expert Review Green was added to MYL9.
Source NHS GMS was added to MYL9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Source NHS GMS was added to MTFMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MECOM Sarah Leigh Source Expert Review Green was added to MECOM.
Source NHS GMS was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.110 IBA57 Sarah Leigh Source Expert Review Green was added to IBA57.
Source NHS GMS was added to IBA57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 GATB Sarah Leigh Source Expert Review Green was added to GATB.
Source NHS GMS was added to GATB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ECHS1 Sarah Leigh Source Expert Review Green was added to ECHS1.
Source NHS GMS was added to ECHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Fetal anomalies v3.110 DNA2 Sarah Leigh Source Expert Review Green was added to DNA2.
Source NHS GMS was added to DNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Fetal anomalies v3.110 COQ7 Sarah Leigh Source Expert Review Green was added to COQ7.
Source NHS GMS was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CLCN4 Sarah Leigh Source Expert Review Green was added to CLCN4.
Source NHS GMS was added to CLCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CDX2 Sarah Leigh Source Expert Review Green was added to CDX2.
Source NHS GMS was added to CDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C1QBP Sarah Leigh Source Expert Review Green was added to C1QBP.
Source NHS GMS was added to C1QBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C19orf70 Sarah Leigh Source Expert Review Green was added to C19orf70.
Source NHS GMS was added to C19orf70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AGTR1 Sarah Leigh Source Expert Review Green was added to AGTR1.
Source NHS GMS was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Fetal anomalies v3.109 NRXN2 Dmitrijs Rots reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36923655; Phenotypes: ASD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.109 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
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
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 v3.107 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, OMIM:610828
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 commented on gene: SLC12A1
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
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 v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Fetal anomalies v3.103 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
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 v3.103 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.102 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
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 v3.100 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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 v3.99 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome, OMIM:303600
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 v3.97 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
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 v3.95 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
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 v3.94 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v3.92 EN1 Eleanor Williams Tag watchlist tag was added to gene: EN1.
Fetal anomalies v3.92 EN1 Eleanor Williams commented on gene: EN1: This gene was copied from the Skeletal dysplasia panel to the Fetal anomalies panel. The Genomics England clinical team have agreed that Fetal anomalies is an appropriate panel for this gene and the rating should currently be amber.
Fetal anomalies v3.92 EN1 Eleanor Williams Entity copied from Skeletal dysplasia v4.10
Fetal anomalies v3.92 EN1 Eleanor Williams gene: EN1 was added
gene: EN1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Fetal anomalies v3.91 EPHB4 Arina Puzriakova Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Lymphatic malformation 7, OMIM:617300; hydrops fetalis
Fetal anomalies v3.90 ACAN Arina Puzriakova commented on gene: ACAN
Fetal anomalies v3.90 ETFB Sarah Leigh Publications for gene: ETFB were set to
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 v3.87 COASY Sarah Leigh Publications for gene: COASY were set to
Fetal anomalies v3.86 PRKACB Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
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
Fetal anomalies v3.85 PRKACA Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
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
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 v3.83 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from BLOOM SYNDROME to Bloom syndrome, OMIM:210900
Fetal anomalies v3.82 GRIN2B Arina Puzriakova Publications for gene: GRIN2B were set to
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 v3.80 SCUBE3 Arina Puzriakova Classified gene: SCUBE3 as Amber List (moderate evidence)
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Gene: scube3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.79 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: SCUBE3.
Tag Q3_22_rating was removed from gene: SCUBE3.
Tag Q3_22_expert_review was removed from gene: SCUBE3.
Fetal anomalies v3.79 RAB11A Arina Puzriakova Classified gene: RAB11A as Amber List (moderate evidence)
Fetal anomalies v3.79 RAB11A Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.79 RAB11A Arina Puzriakova Gene: rab11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.78 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: RAB11A.
Tag Q3_22_rating was removed from gene: RAB11A.
Tag Q3_22_expert_review was removed from gene: RAB11A.
Fetal anomalies v3.78 MRPS14 Arina Puzriakova commented on gene: MRPS14
Fetal anomalies v3.78 GATB Arina Puzriakova changed review comment from: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green. Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."; to: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green (9th May 2023). Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."
Fetal anomalies v3.78 MRPS14 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: MRPS14.
Tag Q2_23_promote_green was removed from gene: MRPS14.
Tag Q2_23_NHS_review was removed from gene: MRPS14.
Fetal anomalies v3.78 GATB Arina Puzriakova commented on gene: GATB
Fetal anomalies v3.78 GATB Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: GATB.
Fetal anomalies v3.78 WNT9B Arina Puzriakova Classified gene: WNT9B as Amber List (moderate evidence)
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 v3.78 WNT9B Arina Puzriakova Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.77 WNT9B Arina Puzriakova Tag watchlist tag was added to gene: WNT9B.
Fetal anomalies v3.77 WLS Arina Puzriakova Classified gene: WLS as Amber List (moderate evidence)
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 v3.77 WLS Arina Puzriakova Gene: wls has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.76 WLS Arina Puzriakova Phenotypes for gene: WLS were changed from structural congenital anomalies to Zaki syndrome, OMIM:619648
Fetal anomalies v3.75 WLS Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: WLS.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Fetal anomalies v3.75 MYL9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.74 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641
Fetal anomalies v3.73 MYL9 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9.
Fetal anomalies v3.73 MYL9 Arina Puzriakova commented on gene: MYL9: Third family reported by Billon et al. 2020 (PMID: 32621347) with the same homozygous exon 4 deletion of MYL9 as the one detected by Moreno et al. 2018 (PMID: 29453416) in an unrelated case. Family includes three sibs affected with megacystis, intestinal malrotation, small and thin colon, as well as some dysmorphic features. Fetopathological examination confirmed the diagnosis of MMIHS.
Fetal anomalies v3.73 MYL9 Arina Puzriakova Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Fetal anomalies v3.72 SCUBE3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SCUBE3.
Tag Q2_23_NHS_review tag was added to gene: SCUBE3.
Fetal anomalies v3.72 RAB11A Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RAB11A.
Tag Q2_23_NHS_review tag was added to gene: RAB11A.
Fetal anomalies v3.72 ZMYM2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ZMYM2.
Tag Q2_23_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v3.72 LRIG2 Arina Puzriakova Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME; Urofacial syndrome 2, OMIM:615112 to Urofacial syndrome 2, OMIM:615112
Fetal anomalies v3.71 AGTR1 Arina Puzriakova Publications for gene: AGTR1 were set to
Fetal anomalies v3.70 AGTR1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AGTR1.
Tag Q2_23_NHS_review tag was added to gene: AGTR1.
Fetal anomalies v3.70 CLCN4 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CLCN4.
Tag Q2_23_NHS_review tag was added to gene: CLCN4.
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 v3.69 MECOM Arina Puzriakova Publications for gene: MECOM were set to
Fetal anomalies v3.68 MECOM Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MECOM.
Tag Q2_23_NHS_review tag was added to gene: MECOM.
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 v3.66 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Fetal anomalies v3.65 UQCRFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: UQCRFS1.
Tag Q2_23_NHS_review tag was added to gene: UQCRFS1.
Fetal anomalies v3.65 UQCC2 Arina Puzriakova Publications for gene: UQCC2 were set to
Fetal anomalies v3.64 TXN2 Arina Puzriakova Publications for gene: TXN2 were set to
Fetal anomalies v3.63 TRMU Arina Puzriakova Publications for gene: TRMU were set to
Fetal anomalies v3.62 TRIT1 Arina Puzriakova Publications for gene: TRIT1 were set to
Fetal anomalies v3.61 TMEM65 Arina Puzriakova Publications for gene: TMEM65 were set to
Fetal anomalies v3.60 TK2 Arina Puzriakova Tag watchlist was removed from gene: TK2.
Tag Q2_23_promote_green tag was added to gene: TK2.
Tag Q2_23_NHS_review tag was added to gene: TK2.
Fetal anomalies v3.60 SUCLA2 Arina Puzriakova Publications for gene: SUCLA2 were set to
Fetal anomalies v3.59 SLC25A46 Arina Puzriakova Publications for gene: SLC25A46 were set to
Fetal anomalies v3.58 SLC25A46 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SLC25A46.
Tag Q2_23_NHS_review tag was added to gene: SLC25A46.
Fetal anomalies v3.58 SLC25A1 Arina Puzriakova Publications for gene: SLC25A1 were set to
Fetal anomalies v3.57 SFXN4 Arina Puzriakova Publications for gene: SFXN4 were set to
Fetal anomalies v3.56 SDHD Arina Puzriakova Publications for gene: SDHD were set to
Fetal anomalies v3.55 RMND1 Arina Puzriakova Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT; Combined oxidative phosphorylation deficiency 11, OMIM:614922 to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Fetal anomalies v3.54 RMND1 Arina Puzriakova Publications for gene: RMND1 were set to
Fetal anomalies v3.53 RMND1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RMND1.
Tag Q2_23_NHS_review tag was added to gene: RMND1.
Fetal anomalies v3.53 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to
Fetal anomalies v3.52 QRSL1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: QRSL1.
Tag Q2_23_NHS_review tag was added to gene: QRSL1.
Fetal anomalies v3.52 POLG Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Fetal anomalies v3.51 POLG Arina Puzriakova Publications for gene: POLG were set to
Fetal anomalies v3.50 PNPLA8 Arina Puzriakova Publications for gene: PNPLA8 were set to
Fetal anomalies v3.49 PNPLA8 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PNPLA8.
Tag Q2_23_NHS_review tag was added to gene: PNPLA8.
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 v3.48 PET100 Arina Puzriakova Publications for gene: PET100 were set to
Fetal anomalies v3.47 PET100 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PET100.
Tag Q2_23_NHS_review tag was added to gene: PET100.
Fetal anomalies v3.47 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY; Lacticacidemia due to PDX1 deficiency, OMIM:245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Fetal anomalies v3.46 PDHX Arina Puzriakova Publications for gene: PDHX were set to
Fetal anomalies v3.45 PDHX Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHX.
Tag Q2_23_NHS_review tag was added to gene: PDHX.
Fetal anomalies v3.45 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Fetal anomalies v3.44 PDHB Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHB.
Tag Q2_23_NHS_review tag was added to gene: PDHB.
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 v3.43 PC Arina Puzriakova Publications for gene: PC were set to
Fetal anomalies v3.42 PC Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PC.
Tag Q2_23_NHS_review tag was added to gene: PC.
Fetal anomalies v3.42 NDUFV2 Arina Puzriakova Publications for gene: NDUFV2 were set to
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 v3.40 NDUFS1 Arina Puzriakova Publications for gene: NDUFS1 were set to
Fetal anomalies v3.39 NDUFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFS1.
Tag Q2_23_NHS_review tag was added to gene: NDUFS1.
Fetal anomalies v3.39 NDUFC2 Arina Puzriakova Publications for gene: NDUFC2 were set to
Fetal anomalies v3.38 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to
Fetal anomalies v3.37 NDUFB3 Arina Puzriakova Publications for gene: NDUFB3 were set to
Fetal anomalies v3.36 NDUFB3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB3.
Tag Q2_23_NHS_review tag was added to gene: NDUFB3.
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 v3.34 NDUFB10 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB10.
Tag Q2_23_NHS_review tag was added to gene: NDUFB10.
Fetal anomalies v3.34 NDUFAF8 Arina Puzriakova Publications for gene: NDUFAF8 were set to
Fetal anomalies v3.33 NDUFAF8 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFAF8.
Tag Q2_23_NHS_review tag was added to gene: NDUFAF8.
Fetal anomalies v3.33 NDUFA6 Arina Puzriakova Publications for gene: NDUFA6 were set to
Fetal anomalies v3.32 NDUFA6 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFA6.
Tag Q2_23_NHS_review tag was added to gene: NDUFA6.
Fetal anomalies v3.32 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to
Fetal anomalies v3.31 NADK2 Arina Puzriakova Publications for gene: NADK2 were set to
Fetal anomalies v3.30 MTPAP Arina Puzriakova Publications for gene: MTPAP were set to
Fetal anomalies v3.29 MTFMT Arina Puzriakova Publications for gene: MTFMT were set to
Fetal anomalies v3.28 MTFMT Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MTFMT.
Tag Q2_23_NHS_review tag was added to gene: MTFMT.
Fetal anomalies v3.28 MRPS14 Arina Puzriakova Publications for gene: MRPS14 were set to
Fetal anomalies v3.27 MRPS14 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MRPS14.
Tag Q2_23_promote_green tag was added to gene: MRPS14.
Tag Q2_23_NHS_review tag was added to gene: MRPS14.
Fetal anomalies v3.27 MPC2 Arina Puzriakova Publications for gene: MPC2 were set to
Fetal anomalies v3.26 MPC1 Arina Puzriakova Publications for gene: MPC1 were set to
Fetal anomalies v3.25 IBA57 Arina Puzriakova Publications for gene: IBA57 were set to
Fetal anomalies v3.24 IBA57 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: IBA57.
Tag Q2_23_NHS_review tag was added to gene: IBA57.
Fetal anomalies v3.24 GFM2 Arina Puzriakova Publications for gene: GFM2 were set to
Fetal anomalies v3.23 GATB Arina Puzriakova Publications for gene: GATB were set to
Fetal anomalies v3.22 GATB Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: GATB.
Tag Q2_23_promote_green tag was added to gene: GATB.
Tag Q2_23_NHS_review tag was added to gene: GATB.
Fetal anomalies v3.22 ECHS1 Arina Puzriakova Publications for gene: ECHS1 were set to
Fetal anomalies v3.21 ECHS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ECHS1.
Tag Q2_23_NHS_review tag was added to gene: ECHS1.
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.
Fetal anomalies v3.20 DNA2 Arina Puzriakova Publications for gene: DNA2 were set to
Fetal anomalies v3.19 DNA2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DNA2.
Tag Q2_23_NHS_review tag was added to gene: DNA2.
Fetal anomalies v3.19 DGUOK Arina Puzriakova Publications for gene: DGUOK were set to
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.
Fetal anomalies v3.16 COX14 Arina Puzriakova Publications for gene: COX14 were set to
Fetal anomalies v3.15 COQ7 Arina Puzriakova Publications for gene: COQ7 were set to
Fetal anomalies v3.14 COQ7 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COQ7.
Tag Q2_23_NHS_review tag was added to gene: COQ7.
Fetal anomalies v3.14 COA6 Arina Puzriakova Publications for gene: COA6 were set to
Fetal anomalies v3.13 COA6 Arina Puzriakova Tag Q2_23_promote_green was removed from gene: COA6.
Tag Q2_23_NHS_review was removed from gene: COA6.
Fetal anomalies v3.13 COA6 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COA6.
Tag Q2_23_NHS_review tag was added to gene: COA6.
Fetal anomalies v3.13 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to 32304219
Fetal anomalies v3.12 C1QBP Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C1QBP.
Tag Q2_23_NHS_review tag was added to gene: C1QBP.
Fetal anomalies v3.12 C19orf70 Arina Puzriakova Publications for gene: C19orf70 were set to
Fetal anomalies v3.11 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Tag Q2_23_NHS_review tag was added to gene: ATP5O.
Fetal anomalies v3.11 ATP5O Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Tag new-gene-name tag was added to gene: ATP5O.
Fetal anomalies v3.11 C19orf70 Arina Puzriakova Tag new-gene-name tag was added to gene: C19orf70.
Fetal anomalies v3.11 C19orf70 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C19orf70.
Tag Q2_23_NHS_review tag was added to gene: C19orf70.
Fetal anomalies v3.11 ATP5O Arina Puzriakova Publications for gene: ATP5O were set to
Fetal anomalies v3.10 ATP5O Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O.
Tag Q2_23_NHS_review tag was added to gene: ATP5O.
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.
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 SCUBE3 Stephanie Allen commented on gene: SCUBE3
Fetal anomalies v3.8 RAB11A Stephanie Allen commented on gene: RAB11A
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 LRIG2 Stephanie Allen commented on gene: LRIG2: 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 Amber gene.
Fetal anomalies v3.8 AGTR1 Stephanie Allen commented on gene: AGTR1: 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 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 SDHD Stephanie Allen commented on gene: SDHD: 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 Red gene.
Fetal anomalies v3.8 SUCLA2 Stephanie Allen commented on gene: SUCLA2: 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 Amber gene.
Fetal anomalies v3.8 SLC25A1 Stephanie Allen commented on gene: SLC25A1: 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 Amber gene.
Fetal anomalies v3.8 SFXN4 Stephanie Allen commented on gene: SFXN4: 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 Amber gene.
Fetal anomalies v3.8 MPC2 Stephanie Allen commented on gene: MPC2: 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 Amber gene.
Fetal anomalies v3.8 MPC1 Stephanie Allen commented on gene: MPC1: 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 Amber gene.
Fetal anomalies v3.8 GFM2 Stephanie Allen commented on gene: GFM2: 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 Amber gene.
Fetal anomalies v3.8 DGUOK Stephanie Allen commented on gene: DGUOK: 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 Amber gene.
Fetal anomalies v3.8 COX14 Stephanie Allen commented on gene: COX14: 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 Amber gene.
Fetal anomalies v3.8 COA6 Stephanie Allen commented on gene: COA6: 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 Amber gene.
Fetal anomalies v3.8 SLC25A46 Stephanie Allen commented on gene: SLC25A46: 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 RMND1 Stephanie Allen commented on gene: RMND1: 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 QRSL1 Stephanie Allen commented on gene: QRSL1: 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 IBA57 Stephanie Allen commented on gene: IBA57: 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 GATB Stephanie Allen commented on gene: GATB: 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 ECHS1 Stephanie Allen commented on gene: ECHS1: 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 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 DNA2 Stephanie Allen commented on gene: DNA2: 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 COQ7 Stephanie Allen commented on gene: COQ7: 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 C1QBP Stephanie Allen commented on gene: C1QBP: 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 C19orf70 Stephanie Allen commented on gene: C19orf70: 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 ATP5O Stephanie Allen commented on gene: ATP5O: 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 LRIG2 Stephanie Allen reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Urofacial syndrome 2, OMIM:615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 CLCN4 Stephanie Allen reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raynaud-Claes syndrome, OMIM:300114; 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 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 TXN2 Stephanie Allen reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26626369; Phenotypes: ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TRMU Stephanie Allen reviewed gene: TRMU: Rating: RED; Mode of pathogenicity: ; Publications: 23625533; Phenotypes: Liver failure, transient infantile, OMIM:613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TRIT1 Stephanie Allen reviewed gene: TRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32088416; Phenotypes: Combined oxidative phosphorylation deficiency 35, OMIM:617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TMEM65 Stephanie Allen reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: 28295037; Phenotypes: TMEM65 related mitochondrial encephalopmyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 TK2 Stephanie Allen reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 SUCLA2 Stephanie Allen reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17287286; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073; 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 SFXN4 Stephanie Allen reviewed gene: SFXN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, OMIM:615578; 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 RMND1 Stephanie Allen reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604853, 27412952; Phenotypes: Combined oxidative phosphorylation deficiency 11, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 QRSL1 Stephanie Allen reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29440775, 30283131; Phenotypes: Combined oxidative phosphorylation deficiency 40, OMIM:618835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 POLG Stephanie Allen reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: 29574624, 33579567, 8368248; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459, Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PNPLA8 Stephanie Allen reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29681094, 34177434; Phenotypes: ?Mitochondrial myopathy with lactic acidosis, OMIM:251950; 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 PDHX Stephanie Allen reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 20002125, 34873726; Phenotypes: Lacticacidemia due to PDX1 deficiency, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 PDHB Stephanie Allen reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; 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 NADK2 Stephanie Allen reviewed gene: NADK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27940755; Phenotypes: 2,4-dienoyl-CoA reductase deficiency, OMIM:616034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 MTPAP Stephanie Allen reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 31779033; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM:613672; 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 MRPS14 Stephanie Allen reviewed gene: MRPS14: Rating: GREEN; Mode of pathogenicity: ; Publications: 30358850; Phenotypes: ?Combined oxidative phosphorylation deficiency 38, OMIM:618378; 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 IBA57 Stephanie Allen reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23462291, 33890810; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 GFM2 Stephanie Allen reviewed gene: GFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29075935, 26016410; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM:618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 GATB Stephanie Allen reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283131; Phenotypes: ?Combined oxidative phosphorylation deficiency 41, OMIM:618838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 ECHS1 Stephanie Allen reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30918357, 26920905, 26000322; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277; 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 DNA2 Stephanie Allen reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31045292, 24389050; Phenotypes: Seckel syndrome 8, OMIM:615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 DGUOK Stephanie Allen reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 22868686; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070, Portal hypertension, noncirrhotic, 1, OMIM:617068; 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 C1QBP Stephanie Allen reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977026, 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, OMIM:617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 C19orf70 Stephanie Allen reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 27485409, 29618761; Phenotypes: Combined oxidative phosphorylation deficiency 37, OMIM:618329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.8 ATP5O Stephanie Allen reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; 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
Fetal anomalies v3.7 LRIG2 Arina Puzriakova Added phenotypes Urofacial syndrome 2, OMIM:615112 for gene: LRIG2
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
Fetal anomalies v3.7 CLCN4 Arina Puzriakova gene: CLCN4 was added
gene: CLCN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CLCN4 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: CLCN4 were set to Raynaud-Claes syndrome, OMIM:300114
Fetal anomalies v3.7 MECOM Arina Puzriakova Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 for gene: MECOM
Fetal anomalies v3.7 TK2 Arina Puzriakova Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 for gene: TK2
Fetal anomalies v3.7 RMND1 Arina Puzriakova Added phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 for gene: RMND1
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 C1QBP Arina Puzriakova Added phenotypes Combined oxidative phosphorylation deficiency 33, OMIM:617713 for gene: C1QBP
Fetal anomalies v3.7 POLG Arina Puzriakova Source Expert Review Amber was added to POLG.
Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 for gene: POLG
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 PDHX Arina Puzriakova Source Expert Review Amber was added to PDHX.
Added phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 for gene: PDHX
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v3.7 PDHB Arina Puzriakova Source Expert Review Amber was added to PDHB.
Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 for gene: PDHB
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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)
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)
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)
Fetal anomalies v3.7 TRMU Arina Puzriakova gene: TRMU was added
gene: TRMU was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, OMIM:613070
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
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
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
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
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
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
Fetal anomalies v3.7 TXN2 Arina Puzriakova gene: TXN2 was added
gene: TXN2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TXN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXN2 were set to ?Combined oxidative phosphorylation deficiency 29 , OMIM:616811
Fetal anomalies v3.7 TRIT1 Arina Puzriakova gene: TRIT1 was added
gene: TRIT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Fetal anomalies v3.7 TMEM65 Arina Puzriakova gene: TMEM65 was added
gene: TMEM65 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM65 were set to TMEM65 related mitochondrial encephalopmyopathy
Fetal anomalies v3.7 SUCLA2 Arina Puzriakova gene: SUCLA2 was added
gene: SUCLA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
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
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
Fetal anomalies v3.7 SFXN4 Arina Puzriakova gene: SFXN4 was added
gene: SFXN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SFXN4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFXN4 were set to Combined oxidative phosphorylation deficiency 18, OMIM:615578
Fetal anomalies v3.7 QRSL1 Arina Puzriakova gene: QRSL1 was added
gene: QRSL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QRSL1 were set to Combined oxidative phosphorylation deficiency 40, OMIM:618835
Fetal anomalies v3.7 PNPLA8 Arina Puzriakova gene: PNPLA8 was added
gene: PNPLA8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
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
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
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
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
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
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
Fetal anomalies v3.7 NADK2 Arina Puzriakova gene: NADK2 was added
gene: NADK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Fetal anomalies v3.7 MTPAP Arina Puzriakova gene: MTPAP was added
gene: MTPAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to ?Spastic ataxia 4, autosomal recessive, OMIM:613672
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
Fetal anomalies v3.7 MRPS14 Arina Puzriakova gene: MRPS14 was added
gene: MRPS14 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPS14 were set to ?Combined oxidative phosphorylation deficiency 38, OMIM:618378
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
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
Fetal anomalies v3.7 IBA57 Arina Puzriakova gene: IBA57 was added
gene: IBA57 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Fetal anomalies v3.7 GFM2 Arina Puzriakova gene: GFM2 was added
gene: GFM2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM2 were set to Combined oxidative phosphorylation deficiency 39, OMIM:618397
Fetal anomalies v3.7 GATB Arina Puzriakova gene: GATB was added
gene: GATB was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATB were set to ?Combined oxidative phosphorylation deficiency 41, OMIM:618838
Fetal anomalies v3.7 ECHS1 Arina Puzriakova gene: ECHS1 was added
gene: ECHS1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
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
Fetal anomalies v3.7 DNA2 Arina Puzriakova gene: DNA2 was added
gene: DNA2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Fetal anomalies v3.7 DGUOK Arina Puzriakova gene: DGUOK was added
gene: DGUOK was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, OMIM:617070; Portal hypertension, noncirrhotic, 1, OMIM:617068
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
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
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
Fetal anomalies v3.7 C19orf70 Arina Puzriakova gene: C19orf70 was added
gene: C19orf70 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, OMIM:618329
Fetal anomalies v3.7 ATP5O Arina Puzriakova gene: ATP5O was added
gene: ATP5O was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency
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)
Fetal anomalies v3.6 CDX2 Arina Puzriakova Publications for gene: CDX2 were set to PMID: 34671974
Fetal anomalies v3.5 CDX2 Arina Puzriakova Classified gene: CDX2 as Amber List (moderate evidence)
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.
Fetal anomalies v3.5 CDX2 Arina Puzriakova Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.4 CDX2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CDX2.
Fetal anomalies v3.4 AAAS Arina Puzriakova Classified gene: AAAS as Green List (high evidence)
Fetal anomalies v3.4 AAAS Arina Puzriakova Added comment: Comment on list classification: Maintaining Green rating as this gene was previously determined to be appropriate for this panel by the NHS GMS Fetal expert group at GOSH.
Fetal anomalies v3.4 AAAS Arina Puzriakova Gene: aaas has been classified as Green List (High Evidence).
Fetal anomalies v3.3 KIF21A Arina Puzriakova Publications for gene: KIF21A were set to 34740919
Fetal anomalies v3.2 KIF21A Arina Puzriakova Classified gene: KIF21A as Amber List (moderate evidence)
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.
Fetal anomalies v3.2 KIF21A Arina Puzriakova Gene: kif21a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.1 KIF21A Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: KIF21A.
Tag Q2_23_NHS_review tag was added to gene: KIF21A.
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
Fetal anomalies v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2023-03-22
Fetal anomalies v3.0 Arina Puzriakova promoted panel to version 3.0
Fetal anomalies v2.17 SMARCC1 Eleanor Williams Added comment: Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.
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 v2.16 KPTN Sarah Leigh Phenotypes for gene: KPTN were changed from MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: PLXND1.
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Classified gene: PLXND1 as Amber List (moderate evidence)
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) to be promoted to GREEN rating at the next GMS panel update.
Fetal anomalies v2.15 PLXND1 Achchuthan Shanmugasundram Gene: plxnd1 has been classified as Amber List (Moderate Evidence).
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
Fetal anomalies v2.13 SELENON Achchuthan Shanmugasundram Added comment: Comment on phenotypes: Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3 and not with SELENON. Hence, it has been removed here.
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 v2.12 CHAMP1 Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
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 WNT7B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNT7B.
Fetal anomalies v2.10 SLC20A1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC20A1.
Fetal anomalies v2.10 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
Fetal anomalies v2.10 FOXP4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: SCUBE3.
Fetal anomalies v2.10 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: RAB11A.
Fetal anomalies v2.10 MED12 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: MED12.
Fetal anomalies v2.10 LIFR Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: LIFR.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova Tag Q2_21_rating was removed from gene: FOXP4.
Tag Q2_21_phenotype was removed from gene: FOXP4.
Tag Q2_21_expert_review was removed from gene: FOXP4.
Fetal anomalies v2.10 WNT7B Arina Puzriakova Tag Q3_22_rating was removed from gene: WNT7B.
Tag Q3_22_NHS_review was removed from gene: WNT7B.
Fetal anomalies v2.10 WBP11 Arina Puzriakova Tag Q2_21_rating was removed from gene: WBP11.
Fetal anomalies v2.10 TMEM70 Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM70.
Tag Q3_22_NHS_review was removed from gene: TMEM70.
Fetal anomalies v2.10 TMEM260 Arina Puzriakova Tag Q4_21_rating was removed from gene: TMEM260.
Fetal anomalies v2.10 TLL1 Arina Puzriakova Tag Q1_22_rating was removed from gene: TLL1.
Fetal anomalies v2.10 SYNE1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SYNE1.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova Tag Q2_21_rating was removed from gene: SLC20A1.
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova Tag for-review was removed from gene: SLC12A6.
Fetal anomalies v2.10 SETD2 Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2.
Tag Q3_22_NHS_review was removed from gene: SETD2.
Fetal anomalies v2.10 RAC3 Arina Puzriakova Tag Q2_22_rating was removed from gene: RAC3.
Fetal anomalies v2.10 PLD1 Arina Puzriakova Tag Q2_21_rating was removed from gene: PLD1.
Tag Q3_22_NHS_review was removed from gene: PLD1.
Fetal anomalies v2.10 PLCB4 Arina Puzriakova Tag Q2_22_rating was removed from gene: PLCB4.
Fetal anomalies v2.10 PEX6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
Fetal anomalies v2.10 OTUD5 Arina Puzriakova Tag Q2_21_rating was removed from gene: OTUD5.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova Tag Q3_22_rating was removed from gene: NDUFB11.
Tag Q3_22_NHS_review was removed from gene: NDUFB11.
Fetal anomalies v2.10 MYH6 Arina Puzriakova Tag Q1_22_MOI was removed from gene: MYH6.
Fetal anomalies v2.10 MTM1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: MTM1.
Fetal anomalies v2.10 MED13L Arina Puzriakova Tag Q3_22_rating was removed from gene: MED13L.
Tag Q3_22_NHS_review was removed from gene: MED13L.
Fetal anomalies v2.10 LTBP3 Arina Puzriakova Tag Q1_22_MOI was removed from gene: LTBP3.
Fetal anomalies v2.10 LARS2 Arina Puzriakova Tag Q2_21_rating was removed from gene: LARS2.
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: KIDINS220.
Fetal anomalies v2.10 HSF4 Arina Puzriakova Tag Q1_22_MOI was removed from gene: HSF4.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova Tag Q3_21_MOI was removed from gene: GRIN1.
Fetal anomalies v2.10 FBN2 Arina Puzriakova Tag Q2_21_MOI was removed from gene: FBN2.
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova Tag Q4_21_rating was removed from gene: EHBP1L1.
Fetal anomalies v2.10 EDNRB Arina Puzriakova Tag Q4_21_MOI was removed from gene: EDNRB.
Fetal anomalies v2.10 EDA Arina Puzriakova Tag Q3_22_rating was removed from gene: EDA.
Tag Q3_22_NHS_review was removed from gene: EDA.
Fetal anomalies v2.10 DPH1 Arina Puzriakova Tag Q2_21_rating was removed from gene: DPH1.
Fetal anomalies v2.10 DMPK Arina Puzriakova Tag Q3_21_MOI was removed from gene: DMPK.
Tag Q3_21_rating was removed from gene: DMPK.
Tag Q3_21_expert_review was removed from gene: DMPK.
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11B1.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11A1.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CRYBB3.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A3.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A1.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova Tag Q3_22_MOI was removed from gene: COL1A2.
Tag Q3_22_expert_review was removed from gene: COL1A2.
Fetal anomalies v2.10 CLPB Arina Puzriakova Tag Q4_21_expert_review was removed from gene: CLPB.
Tag Q4_21_MOI was removed from gene: CLPB.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova Tag Q4_21_MOI was removed from gene: CLCN7.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova Tag Q4_21_MOI was removed from gene: BHLHA9.
Fetal anomalies v2.10 ATAD3A Arina Puzriakova Tag Q3_21_MOI was removed from gene: ATAD3A.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova Tag Q4_21_MOI was removed from gene: AP1S2.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v2.10 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: After NHS Genomic Medicine Service consideration, the rating of this STR has not been changed and remains Amber.
Fetal anomalies v2.10 SCUBE3 Arina Puzriakova commented on gene: SCUBE3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Fetal anomalies v2.10 RAB11A Arina Puzriakova commented on gene: RAB11A
Fetal anomalies v2.10 MED12 Arina Puzriakova commented on gene: MED12
Fetal anomalies v2.10 LIFR Arina Puzriakova commented on gene: LIFR
Fetal anomalies v2.10 KIDINS220 Arina Puzriakova commented on gene: KIDINS220: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to Green. However, the mode of inheritance of 'BIALLELIC, autosomal or pseudoautosomal' was approved following NHS Genomic Medicine Service consideration.
Fetal anomalies v2.10 FOXP4 Arina Puzriakova reviewed gene: FOXP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 WNT7B Arina Puzriakova edited their review of gene: WNT7B: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 WBP11 Arina Puzriakova reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TMEM70 Arina Puzriakova edited their review of gene: TMEM70: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 TMEM260 Arina Puzriakova reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 TLL1 Arina Puzriakova reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 SYNE1 Arina Puzriakova commented on gene: SYNE1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 SLC20A1 Arina Puzriakova edited their review of gene: SLC20A1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 SLC12A6 Arina Puzriakova commented on gene: SLC12A6
Fetal anomalies v2.10 SETD2 Arina Puzriakova edited their review of gene: SETD2: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 RAC3 Arina Puzriakova edited their review of gene: RAC3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 PLCB4 Arina Puzriakova reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 PEX6 Arina Puzriakova commented on gene: PEX6
Fetal anomalies v2.10 OTUD5 Arina Puzriakova commented on gene: OTUD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 NDUFB11 Arina Puzriakova edited their review of gene: NDUFB11: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 MYH6 Arina Puzriakova commented on gene: MYH6
Fetal anomalies v2.10 MTM1 Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 MED13L Arina Puzriakova edited their review of gene: MED13L: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v2.10 LTBP3 Arina Puzriakova commented on gene: LTBP3
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 v2.10 HSF4 Arina Puzriakova commented on gene: HSF4: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 GRIN1 Arina Puzriakova commented on gene: GRIN1
Fetal anomalies v2.10 FBN2 Arina Puzriakova commented on gene: FBN2
Fetal anomalies v2.10 EHBP1L1 Arina Puzriakova reviewed gene: EHBP1L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v2.10 EDNRB Arina Puzriakova commented on gene: EDNRB
Fetal anomalies v2.10 EDA Arina Puzriakova edited their review of gene: EDA: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 DPH1 Arina Puzriakova commented on gene: DPH1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 DMPK Arina Puzriakova edited their review of gene: DMPK: Added comment: The rating of this gene has been updated to Red and the mode of inheritance set to 'Other' following NHS Genomic Medicine Service approval.; Changed rating: RED
Fetal anomalies v2.10 CYP11B1 Arina Puzriakova commented on gene: CYP11B1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CYP11A1 Arina Puzriakova commented on gene: CYP11A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CRYBB3 Arina Puzriakova commented on gene: CRYBB3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A3 Arina Puzriakova commented on gene: COL6A3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL6A1 Arina Puzriakova commented on gene: COL6A1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 COL1A2 Arina Puzriakova commented on gene: COL1A2
Fetal anomalies v2.10 CLPB Arina Puzriakova commented on gene: CLPB: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 CLCN7 Arina Puzriakova commented on gene: CLCN7: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 BHLHA9 Arina Puzriakova commented on gene: BHLHA9
Fetal anomalies v2.10 ATAD3A Arina Puzriakova commented on gene: ATAD3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.10 AP1S2 Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Fetal anomalies v2.9 WNT7B Arina Puzriakova Source Expert Review Green was added to WNT7B.
Source NHS GMS was added to WNT7B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 WBP11 Arina Puzriakova Source Expert Review Green was added to WBP11.
Source NHS GMS was added to WBP11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM70 Arina Puzriakova Source Expert Review Green was added to TMEM70.
Source NHS GMS was added to TMEM70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TMEM260 Arina Puzriakova Source Expert Review Green was added to TMEM260.
Source NHS GMS was added to TMEM260.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 TLL1 Arina Puzriakova Source Expert Review Green was added to TLL1.
Source NHS GMS was added to TLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SYNE1 Arina Puzriakova Source Expert Review Green was added to SYNE1.
Source NHS GMS was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC20A1 Arina Puzriakova Source Expert Review Green was added to SLC20A1.
Source NHS GMS was added to SLC20A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 SLC12A6 Arina Puzriakova Source NHS GMS was added to SLC12A6.
Mode of inheritance for gene SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 SETD2 Arina Puzriakova Source Expert Review Green was added to SETD2.
Source NHS GMS was added to SETD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 RAC3 Arina Puzriakova Source Expert Review Green was added to RAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLD1 Arina Puzriakova Source Expert Review Green was added to PLD1.
Source NHS GMS was added to PLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PLCB4 Arina Puzriakova Source Expert Review Green was added to PLCB4.
Source NHS GMS was added to PLCB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 PEX6 Arina Puzriakova Source NHS GMS was added to PEX6.
Mode of inheritance for gene PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 OTUD5 Arina Puzriakova Source Expert Review Green was added to OTUD5.
Source NHS GMS was added to OTUD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 NDUFB11 Arina Puzriakova Source Expert Review Green was added to NDUFB11.
Source NHS GMS was added to NDUFB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 MYH6 Arina Puzriakova Source NHS GMS was added to MYH6.
Mode of inheritance for gene MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 MTM1 Arina Puzriakova Source NHS GMS was added to MTM1.
Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v2.9 MED13L Arina Puzriakova Source Expert Review Green was added to MED13L.
Source NHS GMS was added to MED13L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 LTBP3 Arina Puzriakova Source NHS GMS was added to LTBP3.
Mode of inheritance for gene LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)
Fetal anomalies v2.9 KIDINS220 Arina Puzriakova Source NHS GMS was added to KIDINS220.
Fetal anomalies v2.9 HSF4 Arina Puzriakova Source NHS GMS was added to HSF4.
Mode of inheritance for gene HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 GRIN1 Arina Puzriakova Source NHS GMS was added to GRIN1.
Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v2.9 FBN2 Arina Puzriakova Source NHS GMS was added to FBN2.
Mode of inheritance for gene FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 EHBP1L1 Arina Puzriakova Source Expert Review Green was added to EHBP1L1.
Source NHS GMS was added to EHBP1L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 EDNRB Arina Puzriakova Source NHS GMS was added to EDNRB.
Mode of inheritance for gene EDNRB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 EDA Arina Puzriakova Source Expert Review Red was added to EDA.
Source NHS GMS was added to EDA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 DPH1 Arina Puzriakova Source Expert Review Green was added to DPH1.
Source NHS GMS was added to DPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v2.9 DMPK Arina Puzriakova Source Expert Review Red was added to DMPK.
Source NHS GMS was added to DMPK.
Mode of inheritance for gene DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v2.9 CYP11B1 Arina Puzriakova Source NHS GMS was added to CYP11B1.
Mode of inheritance for gene CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 CYP11A1 Arina Puzriakova Source NHS GMS was added to CYP11A1.
Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CRYBB3 Arina Puzriakova Source NHS GMS was added to CRYBB3.
Mode of inheritance for gene CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A3 Arina Puzriakova Source NHS GMS was added to COL6A3.
Mode of inheritance for gene COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL6A1 Arina Puzriakova Source NHS GMS was added to COL6A1.
Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 COL1A2 Arina Puzriakova Source NHS GMS was added to COL1A2.
Mode of inheritance for gene COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v2.9 CLPB Arina Puzriakova Source NHS GMS was added to CLPB.
Mode of inheritance for gene CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 CLCN7 Arina Puzriakova Source NHS GMS was added to CLCN7.
Mode of inheritance for gene CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 BHLHA9 Arina Puzriakova Source NHS GMS was added to BHLHA9.
Mode of inheritance for gene BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v2.9 ATAD3A Arina Puzriakova Source NHS GMS was added to ATAD3A.
Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v2.9 AP1S2 Arina Puzriakova Source NHS GMS was added to AP1S2.
Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
Fetal anomalies v2.8 TUBB2B Arina Puzriakova Phenotypes for gene: TUBB2B were changed from POLYMICROGYRIA ASYMMETRIC to Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
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 v2.6 DCX Arina Puzriakova Phenotypes for gene: DCX were changed from SUBCORTICAL BAND HETEROTOPIA X-LINKED; LISSENCEPHALY X-LINKED TYPE 1 to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067
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 v2.3 CHRNE Arina Puzriakova Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Fetal anomalies v2.2 SHOX Arina Puzriakova Phenotypes for gene: SHOX were changed from LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582
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 v2.1 Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30
Fetal anomalies v2.0 Eleanor Williams promoted panel to version 2.0
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
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 commented on gene: PRIM1
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 PRIM1 Eleanor Williams Tag gene-checked was removed from gene: PRIM1.
Fetal anomalies v1.990 FAM126A Eleanor Williams commented on gene: FAM126A
Fetal anomalies v1.990 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
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 v1.989 KDM5C Arina Puzriakova Publications for gene: KDM5C were set to
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.
Fetal anomalies v1.988 KDM5C Arina Puzriakova Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.987 KDM5C Arina Puzriakova Tag Q4_22_MOI tag was added to gene: KDM5C.
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 v1.982 FBLN5 Arina Puzriakova Phenotypes for gene: FBLN5 were changed from Cutis laxa 614434; Cutis laxa 219100 to ?Cutis laxa, autosomal dominant 2, OMIM:614434; Cutis laxa, autosomal recessive, type IA, OMIM:219100
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 EDA Eleanor Williams Tag Q3_22_expert_review was removed from gene: EDA.
Fetal anomalies v1.980 EDA Eleanor Williams Tag Q3_22_expert_review tag was added to gene: EDA.
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 DMPK Eleanor Williams Tag Q3_21_expert_review tag was added to gene: DMPK.
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 v1.979 GNAS Sarah Leigh Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, 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).
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 v1.976 COL1A2 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: COL1A2.
Fetal anomalies v1.976 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE to Camurati-Engelmann disease, OMIM:131300
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 FOXP4 Eleanor Williams Tag Q2_21_rating tag was added to gene: FOXP4.
Tag Q2_21_expert_review tag was added to gene: FOXP4.
Fetal anomalies v1.974 SCUBE3 Eleanor Williams commented on gene: SCUBE3: Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)
Fetal anomalies v1.974 SCUBE3 Eleanor Williams Tag Q4_21_expert_review was removed from gene: SCUBE3.
Tag Q3_22_rating tag was added to gene: SCUBE3.
Tag Q3_22_expert_review tag was added to gene: SCUBE3.
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 v1.974 COL1A2 Eleanor Williams Mode of inheritance for gene: COL1A2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.973 COL1A2 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL1A2.
Fetal anomalies v1.973 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Fetal anomalies v1.972 RAX Sarah Leigh Phenotypes for gene: RAX were changed from MICROPHTHALMIA ISOLATED TYPE 3 to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604
Fetal anomalies v1.971 RAX Sarah Leigh Publications for gene: RAX were set to
Fetal anomalies v1.970 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to
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 v1.968 SETD2 Arina Puzriakova Classified gene: SETD2 as Amber List (moderate evidence)
Fetal anomalies v1.968 SETD2 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.968 SETD2 Arina Puzriakova Gene: setd2 has been classified as Amber List (Moderate Evidence).
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 v1.966 SETD2 Arina Puzriakova Phenotypes for gene: SETD2 were changed from SETD2-associated Overgrowth Syndrome to microcephaly; profound intellectual disability; congenital anomalies; dysmorphic facial features
Fetal anomalies v1.965 SETD2 Arina Puzriakova Publications for gene: SETD2 were set to
Fetal anomalies v1.964 SETD2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: SETD2.
Tag Q3_22_NHS_review tag was added to gene: SETD2.
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 v1.964 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415 to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Fetal anomalies v1.963 UNC13D Arina Puzriakova Publications for gene: UNC13D were set to PMID: 33249554
Fetal anomalies v1.962 UNC13D Arina Puzriakova Classified gene: UNC13D as Amber List (moderate evidence)
Fetal anomalies v1.962 UNC13D 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.
Fetal anomalies v1.962 UNC13D Arina Puzriakova Gene: unc13d has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.961 TK2 Arina Puzriakova Phenotypes for gene: TK2 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM to Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560
Fetal anomalies v1.960 TK2 Arina Puzriakova Classified gene: TK2 as Amber List (moderate evidence)
Fetal anomalies v1.960 TK2 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.960 TK2 Arina Puzriakova Gene: tk2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.959 TK2 Arina Puzriakova Tag watchlist tag was added to gene: TK2.
Fetal anomalies v1.959 THSD1 Arina Puzriakova Classified gene: THSD1 as Amber List (moderate evidence)
Fetal anomalies v1.959 THSD1 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.
Fetal anomalies v1.959 THSD1 Arina Puzriakova Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.958 THSD1 Arina Puzriakova Publications for gene: THSD1 were set to PMID: 28749478; 26036949
Fetal anomalies v1.957 ST3GAL5 Arina Puzriakova Phenotypes for gene: ST3GAL5 were changed from AMISH INFANTILE EPILEPSY SYNDROME to Infantile epilepsy
Fetal anomalies v1.956 ST3GAL5 Arina Puzriakova Publications for gene: ST3GAL5 were set to
Fetal anomalies v1.955 SERPINA11 Arina Puzriakova Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478
Fetal anomalies v1.954 SERPINA11 Arina Puzriakova Classified gene: SERPINA11 as Amber List (moderate evidence)
Fetal anomalies v1.954 SERPINA11 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.
Fetal anomalies v1.954 SERPINA11 Arina Puzriakova Gene: serpina11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.953 PIGS Arina Puzriakova Publications for gene: PIGS were set to PMID: 30269814
Fetal anomalies v1.952 PIGS Arina Puzriakova Phenotypes for gene: PIGS were changed from Developmental and epileptic encephalopathy 95 to Developmental and epileptic encephalopathy 95, OMIM:618143
Fetal anomalies v1.951 PIGS Arina Puzriakova Classified gene: PIGS as Amber List (moderate evidence)
Fetal anomalies v1.951 PIGS 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.
Fetal anomalies v1.951 PIGS Arina Puzriakova Gene: pigs has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.950 NUP88 Arina Puzriakova Publications for gene: NUP88 were set to 30543681
Fetal anomalies v1.949 NONO Arina Puzriakova Tag watchlist tag was added to gene: NONO.
Fetal anomalies v1.949 NONO Arina Puzriakova Publications for gene: NONO were set to 32397791
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 v1.947 NDUFB10 Arina Puzriakova Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730
Fetal anomalies v1.946 NDUFB10 Arina Puzriakova Classified gene: NDUFB10 as Amber List (moderate evidence)
Fetal anomalies v1.946 NDUFB10 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.
Fetal anomalies v1.946 NDUFB10 Arina Puzriakova Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.945 MYBPC3 Arina Puzriakova Classified gene: MYBPC3 as Amber List (moderate evidence)
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'
Fetal anomalies v1.945 MYBPC3 Arina Puzriakova Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.944 MYBPC3 Arina Puzriakova Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127
Fetal anomalies v1.943 MRPS16 Arina Puzriakova Publications for gene: MRPS16 were set to PMID: 28749478
Fetal anomalies v1.942 MRPS16 Arina Puzriakova Classified gene: MRPS16 as Amber List (moderate evidence)
Fetal anomalies v1.942 MRPS16 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.
Fetal anomalies v1.942 MRPS16 Arina Puzriakova Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.941 MANBA Arina Puzriakova Publications for gene: MANBA were set to
Fetal anomalies v1.940 LOX Arina Puzriakova Publications for gene: LOX were set to PMID: 31742715
Fetal anomalies v1.939 LOX Arina Puzriakova Classified gene: LOX as Amber List (moderate evidence)
Fetal anomalies v1.939 LOX 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.
Fetal anomalies v1.939 LOX Arina Puzriakova Gene: lox has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.938 FTO Arina Puzriakova Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117
Fetal anomalies v1.937 FTO Arina Puzriakova Classified gene: FTO as Amber List (moderate evidence)
Fetal anomalies v1.937 FTO 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.
Fetal anomalies v1.937 FTO Arina Puzriakova Gene: fto has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.936 FOXP2 Arina Puzriakova Phenotypes for gene: FOXP2 were changed from SPEECH-LANGUAGE DISORDER 1 to Speech-language disorder-1, OMIM:602081; Structural abnormalities of basal ganglia
Fetal anomalies v1.935 FOXP2 Arina Puzriakova Publications for gene: FOXP2 were set to
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 v1.933 ENG Arina Puzriakova Classified gene: ENG as Amber List (moderate evidence)
Fetal anomalies v1.933 ENG 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.
Fetal anomalies v1.933 ENG Arina Puzriakova Gene: eng has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.932 EDA Arina Puzriakova Classified gene: EDA as Green List (high evidence)
Fetal anomalies v1.932 EDA Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS panel update in line with the recent Red review by Rhiannon Mellis (GOSH).
Fetal anomalies v1.932 EDA Arina Puzriakova Gene: eda has been classified as Green List (High Evidence).
Fetal anomalies v1.931 EDA Arina Puzriakova Phenotypes for gene: EDA were changed from TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1; ECTODERMAL DYSPLASIA TYPE 1 to Ectodermal dysplasia 1, hypohidrotic, X-linked, OMIM:305100
Fetal anomalies v1.930 EDA Arina Puzriakova Tag Q3_22_rating tag was added to gene: EDA.
Tag Q3_22_NHS_review tag was added to gene: EDA.
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Classified gene: DEPDC5 as Amber List (moderate evidence)
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.930 DEPDC5 Arina Puzriakova Gene: depdc5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.929 DEPDC5 Arina Puzriakova Publications for gene: DEPDC5 were set to
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 v1.927 DEPDC5 Arina Puzriakova Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.926 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to 22077972; 31441039; 10944224
Fetal anomalies v1.925 CHRM3 Arina Puzriakova Classified gene: CHRM3 as Amber List (moderate evidence)
Fetal anomalies v1.925 CHRM3 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.
Fetal anomalies v1.925 CHRM3 Arina Puzriakova Gene: chrm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.924 CHRM3 Arina Puzriakova Phenotypes for gene: CHRM3 were changed from Prune belly syndrome; Megacystis to Prune belly syndrome, OMIM:100100; Megacystis
Fetal anomalies v1.923 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Fetal anomalies v1.922 CACNA1S Arina Puzriakova Publications for gene: CACNA1S were set to PMID: 33060286; 28012042
Fetal anomalies v1.921 CACNA1S Arina Puzriakova Classified gene: CACNA1S as Amber List (moderate evidence)
Fetal anomalies v1.921 CACNA1S 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.
Fetal anomalies v1.921 CACNA1S Arina Puzriakova Gene: cacna1s has been classified as Amber List (Moderate Evidence).
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 v1.919 CACNA1D Arina Puzriakova Mode of inheritance for gene: CACNA1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.918 CACNA1D Arina Puzriakova Publications for gene: CACNA1D were set to
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 v1.915 C1QBP Arina Puzriakova Publications for gene: C1QBP were set to
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 v1.913 ASXL3 Arina Puzriakova Publications for gene: ASXL3 were set to
Fetal anomalies v1.912 ASPH Arina Puzriakova Publications for gene: ASPH were set to
Fetal anomalies v1.911 AGT Arina Puzriakova Classified gene: AGT as Amber List (moderate evidence)
Fetal anomalies v1.911 AGT 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.
Fetal anomalies v1.911 AGT Arina Puzriakova Gene: agt has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.910 AGT Arina Puzriakova Publications for gene: AGT were set to PMID: 28976722
Fetal anomalies v1.909 AGT Arina Puzriakova Phenotypes for gene: AGT were changed from Renal dysgenesis to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v1.908 ACVRL1 Arina Puzriakova Publications for gene: ACVRL1 were set to
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 v1.906 ACVRL1 Arina Puzriakova Classified gene: ACVRL1 as Amber List (moderate evidence)
Fetal anomalies v1.906 ACVRL1 Arina Puzriakova Added comment: Comment on list classification: Updated rating from Red to Amber inline with this recent Amber review by Rhiannon Mellis (GOSH), awaiting further evidence supporting that this gene can cause a fetal phenotype.
Fetal anomalies v1.906 ACVRL1 Arina Puzriakova Gene: acvrl1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.905 WNT7B Arina Puzriakova Classified gene: WNT7B as Amber List (moderate evidence)
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.
Fetal anomalies v1.905 WNT7B Arina Puzriakova Gene: wnt7b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.904 WNT7B Arina Puzriakova Tag Q3_22_rating tag was added to gene: WNT7B.
Tag Q3_22_NHS_review tag was added to gene: WNT7B.
Fetal anomalies v1.904 RAB11A Eleanor Williams Classified gene: RAB11A as Amber List (moderate evidence)
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 v1.904 RAB11A Eleanor Williams Gene: rab11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.903 RAB11A Eleanor Williams Phenotypes for gene: RAB11A were changed from Epilepsy and intellectual disability to microcephaly, HP:0000252; brain anomalies; Intellectual disability, HP:0001249
Fetal anomalies v1.902 RAB11A Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants but no functional data available.
Fetal anomalies v1.902 RAB11A Eleanor Williams Mode of pathogenicity for gene: RAB11A was changed from to Other
Fetal anomalies v1.901 RAB11A Eleanor Williams Publications for gene: RAB11A were set to
Fetal anomalies v1.900 RAB11A Eleanor Williams Tag Q3_22_rating tag was added to gene: RAB11A.
Tag Q3_22_expert_review tag was added to gene: RAB11A.
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).
Fetal anomalies v1.900 RAB11A Eleanor Williams commented on gene: RAB11A
Fetal anomalies v1.900 EDA Rhiannon Mellis reviewed gene: EDA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.900 CHRM3 Rhiannon Mellis gene: CHRM3 was added
gene: CHRM3 was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to PMID: 22077972; 31441039; 10944224
Phenotypes for gene: CHRM3 were set to Prune belly syndrome; Megacystis
Review for gene: CHRM3 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:
Discussed as a potential cause of megacystis. Currently Red on Panelapp CAKUT panel (2016) because at that time there was only 1 reported family and a mouse model. The unpublished data mentioned in that panelapp review (from Adrian Woolf, Manchester) is now published so now 2 families PMID: 22077972; 31441039 plus a mouse model PMID: 10944224. However, prenatal findings (distended bladder and unilateral hydronephrosis) only documented for one individual. More evidence of prenatal phenotype would be helpful.
Sources: Expert Review, Literature
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
Fetal anomalies v1.900 DEPDC5 Rhiannon Mellis reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32848577; Phenotypes: Epilepsy, Structural brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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 TK2 Rhiannon Mellis reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 PIGS Rhiannon Mellis gene: PIGS was added
gene: PIGS was added to Fetal anomalies. Sources: Expert Review,Literature
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to PMID: 30269814
Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95
Review for gene: PIGS 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:
Currently red/amber on some other panels but reviewed on Congenital disorders of glycosylation panel as having sufficient evidence for green rating at next major review, in light of this same paper (PMID: 30269814). Three unrelated families reported. Severe neurological phenotype ranging from fetal akinesia to intellectual disability/epileptic encephalopathy. Fetal akinesia phenotype may be relevant for fetal anomalies panel.
Sources: Expert Review, Literature
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
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
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
Fetal anomalies v1.900 NUP88 Rhiannon Mellis reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33060286; Phenotypes: fetal akinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
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
Fetal anomalies v1.900 NONO Rhiannon Mellis reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31680349; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.900 FOXP2 Rhiannon Mellis reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: Speech-language disorder, structural abnormalities of basal ganglia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.900 AGT Rhiannon Mellis gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to PMID: 28976722
Phenotypes for gene: AGT were set to Renal dysgenesis
Review for gene: AGT 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): CAKUT and unexplained kidney failure in young people

Details of review:
Fu et al 2018 (PMID: 28976722) report one fetal case with Right multicystic dysplastic kidney
Sources: Literature, Expert Review
Fetal anomalies v1.900 ASPH Rhiannon Mellis reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 ST3GAL5 Rhiannon Mellis reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28976722; Phenotypes: Infantile epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.900 MANBA Rhiannon Mellis reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33249554; Phenotypes: ; Mode of inheritance: None
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
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
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
Fetal anomalies v1.900 TMEM70 Arina Puzriakova Publications for gene: TMEM70 were set to
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 v1.898 TMEM70 Arina Puzriakova Classified gene: TMEM70 as Amber List (moderate evidence)
Fetal anomalies v1.898 TMEM70 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.898 TMEM70 Arina Puzriakova Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.897 TMEM70 Arina Puzriakova Tag Q3_22_rating tag was added to gene: TMEM70.
Tag Q3_22_NHS_review tag was added to gene: TMEM70.
Fetal anomalies v1.897 SPTA1 Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag); to: 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 (added watchlist tag)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Classified gene: SPTA1 as Amber List (moderate evidence)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag)
Fetal anomalies v1.897 SPTA1 Arina Puzriakova Gene: spta1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.896 SPTA1 Arina Puzriakova Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484
Fetal anomalies v1.895 SPTA1 Arina Puzriakova Tag watchlist tag was added to gene: SPTA1.
Fetal anomalies v1.895 PLOD3 Arina Puzriakova Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Classified gene: PLOD3 as Amber List (moderate evidence)
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in view of two unrelated cases presenting with a fetal phenotype reported to date.
Fetal anomalies v1.894 PLOD3 Arina Puzriakova Gene: plod3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.893 PLOD3 Arina Puzriakova Phenotypes for gene: PLOD3 were changed from Lysyl hydroxylase 3 deficiency; IUGR; Contractures to Lysyl hydroxylase 3 deficiency, OMIM:612394; IUGR; Contractures
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 v1.891 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 27799408; 33645542
Fetal anomalies v1.890 PLD1 Arina Puzriakova Tag Q3_22_NHS_review tag was added to gene: PLD1.
Fetal anomalies v1.890 NMNAT2 Arina Puzriakova Publications for gene: NMNAT2 were set to 31136762; 31132363; 23082226
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 v1.888 NEXN Arina Puzriakova Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564
Fetal anomalies v1.887 NEXN Arina Puzriakova Classified gene: NEXN as Amber List (moderate evidence)
Fetal anomalies v1.887 NEXN Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber in view of two unrelated cases presenting with a fetal phenotype reported to date (added watchlist tag).
Fetal anomalies v1.887 NEXN Arina Puzriakova Gene: nexn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.886 NEXN Arina Puzriakova Tag watchlist tag was added to gene: NEXN.
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Classified gene: NDUFB11 as Amber List (moderate evidence)
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.886 NDUFB11 Arina Puzriakova Gene: ndufb11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.885 NDUFB11 Arina Puzriakova Publications for gene: NDUFB11 were set to
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 v1.883 NDUFB11 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFB11.
Tag Q3_22_NHS_review tag was added to gene: NDUFB11.
Fetal anomalies v1.883 MED13L Arina Puzriakova Publications for gene: MED13L were set to
Fetal anomalies v1.882 MED13L Arina Puzriakova Tag Q3_22_rating tag was added to gene: MED13L.
Tag Q3_22_NHS_review tag was added to gene: MED13L.
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 v1.881 MED13L Arina Puzriakova Classified gene: MED13L as Amber List (moderate evidence)
Fetal anomalies v1.881 MED13L Arina Puzriakova Added comment: Comment on list classification: Following clinical review, it was agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.881 MED13L Arina Puzriakova Gene: med13l has been classified as Amber List (Moderate Evidence).
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
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
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 NMNAT2 Rhiannon Mellis reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33442022; Phenotypes: Hydrops fetalis, brain malformation, oligohydramnios; Mode of inheritance: None
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
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 v1.880 LRIT3 Arina Puzriakova commented on gene: LRIT3
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 v1.879 LONP1 Arina Puzriakova Tag watchlist_moi tag was added to gene: LONP1.
Fetal anomalies v1.879 LONP1 Arina Puzriakova Classified gene: LONP1 as Green List (high evidence)
Fetal anomalies v1.879 LONP1 Arina Puzriakova Gene: lonp1 has been classified as Green List (High Evidence).
Fetal anomalies v1.878 LRIT3 Arina Puzriakova Source Expert Review Red was added to LRIT3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v1.878 LONP1 Arina Puzriakova Source Expert Review Red was added to LONP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v1.877 ZFPM2 Arina Puzriakova Classified gene: ZFPM2 as Amber List (moderate evidence)
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 v1.877 ZFPM2 Arina Puzriakova Gene: zfpm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.876 ZFPM2 Arina Puzriakova Phenotypes for gene: ZFPM2 were changed from Congenital diaphragmatic hernia to Diaphragmatic hernia 3, OMIM:610187
Fetal anomalies v1.875 TUBG1 Arina Puzriakova Publications for gene: TUBG1 were set to 23603762; 27010057
Fetal anomalies v1.874 TUBG1 Arina Puzriakova Phenotypes for gene: TUBG1 were changed from Posteriorly predominant pachygyria and severe microcephaly to Cortical dysplasia, complex, with other brain malformations 4, OMIM:615412
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
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 v1.873 MTM1 Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.872 MTM1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: MTM1.
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 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
Fetal anomalies v1.871 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Fetal anomalies v1.871 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
Fetal anomalies v1.871 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
Fetal anomalies v1.871 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
Fetal anomalies v1.871 TTC37 Sarah Leigh commented on gene: TTC37
Fetal anomalies v1.871 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
Fetal anomalies v1.871 SKIV2L Sarah Leigh commented on gene: SKIV2L
Fetal anomalies v1.871 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Fetal anomalies v1.871 KIAA1109 Sarah Leigh commented on gene: KIAA1109
Fetal anomalies v1.871 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Fetal anomalies v1.871 GBA Sarah Leigh commented on gene: GBA
Fetal anomalies v1.871 ARHGAP29 Eleanor Williams Publications for gene: ARHGAP29 were set to
Fetal anomalies v1.870 SRY Eleanor Williams commented on gene: SRY: Added Y chromosome tag to indicate this gene is encoded on the Y chromosome, which is currently not included in the Bioinformatics tiering pipeline.
Fetal anomalies v1.870 SRY Eleanor Williams Tag y-chromosome tag was added to gene: SRY.
Fetal anomalies v1.870 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Fetal anomalies v1.869 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
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 v1.868 CYP11B1 Arina Puzriakova Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.867 CYP11B1 Arina Puzriakova Phenotypes for gene: CYP11B1 were changed from Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
Fetal anomalies v1.866 CYP11B1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11B1.
Fetal anomalies v1.866 CYP11A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11A1.
Fetal anomalies v1.866 CYP11A1 Arina Puzriakova Publications for gene: CYP11A1 were set to 28425981
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 v1.865 CYP11A1 Arina Puzriakova Mode of inheritance for gene: CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
Fetal anomalies v1.864 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.863 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
Fetal anomalies v1.863 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.863 ACO2 Sarah Leigh Publications for gene: ACO2 were set to
Fetal anomalies v1.862 PLCB4 Eleanor Williams Classified gene: PLCB4 as Amber List (moderate evidence)
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 v1.862 PLCB4 Eleanor Williams Gene: plcb4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.861 PLCB4 Eleanor Williams Mode of inheritance for gene: PLCB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.860 PLCB4 Eleanor Williams Tag Q2_22_rating tag was added to gene: PLCB4.
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 TAZ Arina Puzriakova commented on gene: TAZ
Fetal anomalies v1.860 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
Fetal anomalies v1.860 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: Added new-gene-name tag, new approved HGNC gene symbol for PIH1D3 is DNAAF6
Fetal anomalies v1.860 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
Fetal anomalies v1.860 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
Fetal anomalies v1.860 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
Fetal anomalies v1.860 FAM46A Arina Puzriakova commented on gene: FAM46A: Added new-gene-name tag, new approved HGNC gene symbol is TENT5A
Fetal anomalies v1.860 FAM46A Arina Puzriakova Tag new-gene-name tag was added to gene: FAM46A.
Fetal anomalies v1.860 C8orf37 Arina Puzriakova commented on gene: C8orf37
Fetal anomalies v1.860 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
Fetal anomalies v1.860 WBP11 Arina Puzriakova Tag gene-checked tag was added to gene: WBP11.
Fetal anomalies v1.860 PRIM1 Arina Puzriakova Tag gene-checked tag was added to gene: PRIM1.
Fetal anomalies v1.860 MYT1 Arina Puzriakova Tag gene-checked tag was added to gene: MYT1.
Fetal anomalies v1.860 MYH10 Arina Puzriakova Tag gene-checked tag was added to gene: MYH10.
Fetal anomalies v1.860 SCLT1 Eleanor Williams Tag gene-checked tag was added to gene: SCLT1.
Fetal anomalies v1.860 ROBO1 Eleanor Williams Tag gene-checked tag was added to gene: ROBO1.
Fetal anomalies v1.860 SMARCC1 Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
Fetal anomalies v1.860 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Fetal anomalies v1.860 TMEM94 Eleanor Williams Tag gene-checked tag was added to gene: TMEM94.
Fetal anomalies v1.860 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Fetal anomalies v1.860 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Fetal anomalies v1.860 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
Fetal anomalies v1.860 GREB1L Eleanor Williams Tag gene-checked tag was added to gene: GREB1L.
Fetal anomalies v1.860 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
Fetal anomalies v1.860 EHBP1L1 Eleanor Williams Tag gene-checked tag was added to gene: EHBP1L1.
Fetal anomalies v1.860 ARHGAP29 Catherine Snow Tag gene-checked tag was added to gene: ARHGAP29.
Fetal anomalies v1.860 GNAI1 Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
Fetal anomalies v1.859 EXOC3L2 Arina Puzriakova Tag gene-checked tag was added to gene: EXOC3L2.
Fetal anomalies v1.859 DISP1 Arina Puzriakova commented on gene: DISP1: Added 'watchlist' tag as inclusion of this gene on the R85 Holoprosencephaly panel is currently under GMS review (TBC_NHSE) and the final decision should also be reflected on this panel once determined.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag watchlist tag was added to gene: DISP1.
Fetal anomalies v1.859 DISP1 Arina Puzriakova Tag gene-checked tag was added to gene: DISP1.
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.
Fetal anomalies v1.858 COL1A2 Eleanor Williams commented on gene: COL1A2
Fetal anomalies v1.858 MSX1 Arina Puzriakova Phenotypes for gene: MSX1 were changed from CLEFT LIP +/- CLEFT PALATE to Orofacial cleft 5, OMIM:608874
Fetal anomalies v1.857 IHH Arina Puzriakova Phenotypes for gene: IHH were changed from BRACHYDACTYLY, TYPE A1; ACROCAPITOFEMORAL DYSPLASIA to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500
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 v1.855 LIFR Eleanor Williams Publications for gene: LIFR were set to
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).
Fetal anomalies v1.854 LIFR Eleanor Williams commented on gene: LIFR
Fetal anomalies v1.854 LIFR Eleanor Williams Tag Q2_22_MOI tag was added to gene: LIFR.
Fetal anomalies v1.854 LIFR Eleanor Williams Tag Q2_22_expert_review tag was added to gene: LIFR.
Fetal anomalies v1.854 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I to Knobloch syndrome, type 1, OMIM:267750
Fetal anomalies v1.853 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to
Fetal anomalies v1.852 IGF1R Arina Puzriakova Phenotypes for gene: IGF1R were changed from INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO to Insulin-like growth factor I, resistance to, OMIM:270450
Fetal anomalies v1.851 RAC3 Arina Puzriakova Phenotypes for gene: RAC3 were changed from Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577
Fetal anomalies v1.850 RAC3 Arina Puzriakova Classified gene: RAC3 as Amber List (moderate evidence)
Fetal anomalies v1.850 RAC3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update.
Fetal anomalies v1.850 RAC3 Arina Puzriakova Gene: rac3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.849 RAC3 Arina Puzriakova Tag Q2_22_rating tag was added to gene: RAC3.
Fetal anomalies v1.849 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, OMIM:609054
Fetal anomalies v1.848 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
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 v1.847 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4; ZELLWEGER SYNDROME to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
Fetal anomalies v1.846 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
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 v1.845 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.844 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
Fetal anomalies v1.844 MYH6 Ivone Leong Tag Q1_22_MOI tag was added to gene: MYH6.
Fetal anomalies v1.844 MYH6 Ivone Leong reviewed gene: MYH6: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Classified gene: TUBA8 as Amber List (moderate evidence)
Fetal anomalies v1.844 TUBA8 Arina Puzriakova Gene: tuba8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.843 TUBA8 Arina Puzriakova Tag for-review was removed from gene: TUBA8.
Fetal anomalies v1.843 TUBA8 Arina Puzriakova commented on gene: TUBA8
Fetal anomalies v1.843 NEK9 Arina Puzriakova Classified gene: NEK9 as Green List (high evidence)
Fetal anomalies v1.843 NEK9 Arina Puzriakova Gene: nek9 has been classified as Green List (High Evidence).
Fetal anomalies v1.842 NEK9 Arina Puzriakova Tag for-review was removed from gene: NEK9.
Fetal anomalies v1.842 NEK9 Arina Puzriakova commented on gene: NEK9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.842 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Fetal anomalies v1.842 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Fetal anomalies v1.840 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Fetal anomalies v1.840 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Tag for-review was removed from Region: ISCA-46302-Gain.
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova commented on Region: ISCA-46302-Gain
Fetal anomalies v1.839 ISCA-46302-Gain Arina Puzriakova Haploinsufficiency Score for ISCA-46302-Gain was changed from None to .
Source Expert Review Green was added to Region: ISCA-46302-Gain.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.838 PRRX1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRRX1.
Fetal anomalies v1.838 PHF6 Arina Puzriakova Tag Q4_21_MOI was removed from gene: PHF6.
Fetal anomalies v1.838 PRRX1 Arina Puzriakova commented on gene: PRRX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.838 PHF6 Arina Puzriakova commented on gene: PHF6
Fetal anomalies v1.837 PRRX1 Arina Puzriakova Source Expert Review Green was added to PRRX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.837 PHF6 Arina Puzriakova Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova Tag for-review was removed from gene: ZSWIM6.
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova Tag for-review was removed from gene: ZMYND10.
Fetal anomalies v1.836 XYLT2 Arina Puzriakova Tag for-review was removed from gene: XYLT2.
Fetal anomalies v1.836 WDR81 Arina Puzriakova Tag for-review was removed from gene: WDR81.
Fetal anomalies v1.836 WDR73 Arina Puzriakova Tag for-review was removed from gene: WDR73.
Fetal anomalies v1.836 VRK1 Arina Puzriakova Tag for-review was removed from gene: VRK1.
Fetal anomalies v1.836 VEGFC Arina Puzriakova Tag for-review was removed from gene: VEGFC.
Fetal anomalies v1.836 VAMP1 Arina Puzriakova Tag for-review was removed from gene: VAMP1.
Fetal anomalies v1.836 USP9X Arina Puzriakova Tag for-review was removed from gene: USP9X.
Fetal anomalies v1.836 USP18 Arina Puzriakova Tag for-review was removed from gene: USP18.
Fetal anomalies v1.836 UBE2T Arina Puzriakova Tag for-review was removed from gene: UBE2T.
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova Tag for-review was removed from gene: TXNDC15.
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova Tag for-review was removed from gene: TUBGCP4.
Fetal anomalies v1.836 TUBG1 Arina Puzriakova Tag for-review was removed from gene: TUBG1.
Fetal anomalies v1.836 TUBB3 Arina Puzriakova Tag for-review was removed from gene: TUBB3.
Fetal anomalies v1.836 TSFM Arina Puzriakova Tag for-review was removed from gene: TSFM.
Fetal anomalies v1.836 TSEN34 Arina Puzriakova Tag for-review was removed from gene: TSEN34.
Fetal anomalies v1.836 TSEN2 Arina Puzriakova Tag for-review was removed from gene: TSEN2.
Fetal anomalies v1.836 TRMT10A Arina Puzriakova Tag for-review was removed from gene: TRMT10A.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova edited their review of gene: TRAPPC12: Changed rating: GREEN
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova Tag watchlist was removed from gene: TRAPPC12.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova Tag for-review was removed from gene: TRAP1.
Fetal anomalies v1.836 TRAIP Arina Puzriakova Tag for-review was removed from gene: TRAIP.
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova Tag for-review was removed from gene: TRAF3IP1.
Fetal anomalies v1.836 TOR1A Arina Puzriakova Tag for-review was removed from gene: TOR1A.
Fetal anomalies v1.836 TOE1 Arina Puzriakova Tag for-review was removed from gene: TOE1.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova Tag for-review was removed from gene: TNNT3.
Fetal anomalies v1.836 TMX2 Arina Puzriakova Tag for-review was removed from gene: TMX2.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova Tag for-review was removed from gene: TMEM98.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova Tag for-review was removed from gene: TMEM38B.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova Tag for-review was removed from gene: TMEM216.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova Tag for-review was removed from gene: TMEM107.
Fetal anomalies v1.836 TENM3 Arina Puzriakova Tag for-review was removed from gene: TENM3.
Fetal anomalies v1.836 TELO2 Arina Puzriakova Tag for-review was removed from gene: TELO2.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova Tag for-review was removed from gene: TCTEX1D2.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova Tag for-review was removed from gene: TBC1D32.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova Tag for-review was removed from gene: SULT2B1.
Fetal anomalies v1.836 SUFU Arina Puzriakova Tag watchlist was removed from gene: SUFU.
Tag for-review was removed from gene: SUFU.
Fetal anomalies v1.836 STRADA Arina Puzriakova Tag for-review was removed from gene: STRADA.
Fetal anomalies v1.836 STIL Arina Puzriakova Tag for-review was removed from gene: STIL.
Fetal anomalies v1.836 STAC3 Arina Puzriakova Tag for-review was removed from gene: STAC3.
Fetal anomalies v1.836 ST14 Arina Puzriakova Tag for-review was removed from gene: ST14.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova Tag for-review was removed from gene: SPECC1L.
Fetal anomalies v1.836 SPARC Arina Puzriakova Tag for-review was removed from gene: SPARC.
Fetal anomalies v1.836 SP7 Arina Puzriakova Tag for-review was removed from gene: SP7.
Fetal anomalies v1.836 SOX6 Arina Puzriakova Tag for-review was removed from gene: SOX6.
Fetal anomalies v1.836 SOX18 Arina Puzriakova Tag for-review was removed from gene: SOX18.
Fetal anomalies v1.836 SNX10 Arina Puzriakova Tag for-review was removed from gene: SNX10.
Fetal anomalies v1.836 SMS Arina Puzriakova Tag for-review was removed from gene: SMS.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova Tag for-review was removed from gene: SMPD4.
Fetal anomalies v1.836 SMG9 Arina Puzriakova Tag for-review was removed from gene: SMG9.
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 SLC6A9 Arina Puzriakova Tag Q4_21_rating was removed from gene: SLC6A9.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova Tag for-review was removed from gene: SLC5A7.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova Tag for-review was removed from gene: SLC29A3.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova Tag for-review was removed from gene: SLC25A19.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova Tag for-review was removed from gene: SLC18A3.
Fetal anomalies v1.836 SIX6 Arina Puzriakova Tag for-review was removed from gene: SIX6.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova Tag for-review was removed from gene: SHANK3.
Fetal anomalies v1.836 SGCG Arina Puzriakova Tag for-review was removed from gene: SGCG.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova Tag for-review was removed from gene: SERPINH1.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova Tag for-review was removed from gene: SERPINF1.
Fetal anomalies v1.836 SEC24D Arina Puzriakova Tag for-review was removed from gene: SEC24D.
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova Tag for-review was removed from gene: SDR9C7.
Fetal anomalies v1.836 SCN1A Arina Puzriakova Tag for-review was removed from gene: SCN1A.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova Tag for-review was removed from gene: SCLT1.
Fetal anomalies v1.836 RSPH9 Arina Puzriakova Tag for-review was removed from gene: RSPH9.
Fetal anomalies v1.836 RSPH4A Arina Puzriakova Tag for-review was removed from gene: RSPH4A.
Fetal anomalies v1.836 RRAS2 Arina Puzriakova Tag for-review was removed from gene: RRAS2.
Fetal anomalies v1.836 RPS7 Arina Puzriakova Tag for-review was removed from gene: RPS7.
Fetal anomalies v1.836 RPS24 Arina Puzriakova Tag for-review was removed from gene: RPS24.
Fetal anomalies v1.836 RPL35A Arina Puzriakova Tag for-review was removed from gene: RPL35A.
Fetal anomalies v1.836 RPL10 Arina Puzriakova Tag for-review was removed from gene: RPL10.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova Tag for-review was removed from gene: ROBO3.
Fetal anomalies v1.836 RFT1 Arina Puzriakova Tag for-review was removed from gene: RFT1.
Fetal anomalies v1.836 RBM10 Arina Puzriakova Tag for-review was removed from gene: RBM10.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova Tag for-review was removed from gene: RBBP8.
Fetal anomalies v1.836 RAB33B Arina Puzriakova Tag for-review was removed from gene: RAB33B.
Fetal anomalies v1.836 PYGM Arina Puzriakova Tag for-review was removed from gene: PYGM.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova Tag for-review was removed from gene: PTPN14.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova Tag for-review was removed from gene: PSAT1.
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova Tag for-review was removed from gene: PRUNE1.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova Tag for-review was removed from gene: PRKAG2.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova Tag Q4_21_rating was removed from gene: PRIM1.
Fetal anomalies v1.836 POP1 Arina Puzriakova Tag for-review was removed from gene: POP1.
Fetal anomalies v1.836 POLR1B Arina Puzriakova Tag Q4_21_rating was removed from gene: POLR1B.
Fetal anomalies v1.836 POLR1A Arina Puzriakova Tag for-review was removed from gene: POLR1A.
Fetal anomalies v1.836 POLG2 Arina Puzriakova Tag for-review was removed from gene: POLG2.
Fetal anomalies v1.836 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova Tag for-review was removed from gene: PNPLA1.
Fetal anomalies v1.836 PLG Arina Puzriakova Tag for-review was removed from gene: PLG.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova Tag for-review was removed from gene: PLAG1.
Fetal anomalies v1.836 PITX1 Arina Puzriakova Tag for-review was removed from gene: PITX1.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova Tag for-review was removed from gene: PIK3C2A.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova Tag for-review was removed from gene: PIH1D3.
Fetal anomalies v1.836 PIGN Arina Puzriakova Tag for-review was removed from gene: PIGN.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova Tag for-review was removed from gene: PIBF1.
Fetal anomalies v1.836 PGM3 Arina Puzriakova Tag for-review was removed from gene: PGM3.
Fetal anomalies v1.836 PFKM Arina Puzriakova Tag for-review was removed from gene: PFKM.
Fetal anomalies v1.836 PBX1 Arina Puzriakova Tag for-review was removed from gene: PBX1.
Fetal anomalies v1.836 PAX7 Arina Puzriakova Tag for-review was removed from gene: PAX7.
Fetal anomalies v1.836 P4HB Arina Puzriakova Tag for-review was removed from gene: P4HB.
Fetal anomalies v1.836 OSGEP Arina Puzriakova Tag for-review was removed from gene: OSGEP.
Fetal anomalies v1.836 NXN Arina Puzriakova Tag for-review was removed from gene: NXN.
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova Tag for-review was removed from gene: NIPAL4.
Fetal anomalies v1.836 NEK8 Arina Puzriakova Tag for-review was removed from gene: NEK8.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova Tag for-review was removed from gene: NEDD4L.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova Tag for-review was removed from gene: NECTIN1.
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova Tag for-review was removed from gene: NADSYN1.
Fetal anomalies v1.836 MYPN Arina Puzriakova Tag for-review was removed from gene: MYPN.
Fetal anomalies v1.836 MYOCD Arina Puzriakova Tag for-review was removed from gene: MYOCD.
Fetal anomalies v1.836 MYO9A Arina Puzriakova Tag for-review was removed from gene: MYO9A.
Fetal anomalies v1.836 MYO18B Arina Puzriakova Tag for-review was removed from gene: MYO18B.
Fetal anomalies v1.836 MYMK Arina Puzriakova Tag for-review was removed from gene: MYMK.
Fetal anomalies v1.836 MYL1 Arina Puzriakova Tag for-review was removed from gene: MYL1.
Fetal anomalies v1.836 MYH7 Arina Puzriakova Tag for-review was removed from gene: MYH7.
Fetal anomalies v1.836 MYH2 Arina Puzriakova Tag for-review was removed from gene: MYH2.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova Tag for-review was removed from gene: MSTO1.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova Tag for-review was removed from gene: MSMO1.
Fetal anomalies v1.836 MRAS Arina Puzriakova Tag for-review was removed from gene: MRAS.
Fetal anomalies v1.836 MOGS Arina Puzriakova Tag for-review was removed from gene: MOGS.
Fetal anomalies v1.836 MN1 Arina Puzriakova Tag for-review was removed from gene: MN1.
Tag Q4_21_rating was removed from gene: MN1.
Fetal anomalies v1.836 MESD Arina Puzriakova Tag for-review was removed from gene: MESD.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova Tag for-review was removed from gene: MEOX1.
Fetal anomalies v1.836 MEIS2 Arina Puzriakova Tag for-review was removed from gene: MEIS2.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova Tag for-review was removed from gene: MAP3K7.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova Tag for-review was removed from gene: MAP3K20.
Fetal anomalies v1.836 MACF1 Arina Puzriakova Tag for-review was removed from gene: MACF1.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova Tag for-review was removed from gene: LRRC56.
Fetal anomalies v1.836 LONP1 Arina Puzriakova Tag for-review was removed from gene: LONP1.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB2.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova Tag Q4_21_rating was removed from gene: LMNB1.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova Tag for-review was removed from gene: LAMB1.
Fetal anomalies v1.836 KNL1 Arina Puzriakova Tag for-review was removed from gene: KNL1.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova Tag for-review was removed from gene: KLHL7.
Fetal anomalies v1.836 KIF5C Arina Puzriakova Tag for-review was removed from gene: KIF5C.
Fetal anomalies v1.836 KIF2A Arina Puzriakova Tag for-review was removed from gene: KIF2A.
Fetal anomalies v1.836 KIF14 Arina Puzriakova Tag for-review was removed from gene: KIF14.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova Tag for-review was removed from gene: KIAA0753.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova Tag for-review was removed from gene: KATNB1.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova Tag for-review was removed from gene: ITGA8.
Fetal anomalies v1.836 IFT81 Arina Puzriakova Tag for-review was removed from gene: IFT81.
Fetal anomalies v1.836 IFT52 Arina Puzriakova Tag for-review was removed from gene: IFT52.
Fetal anomalies v1.836 IDH1 Arina Puzriakova Tag for-review was removed from gene: IDH1.
Fetal anomalies v1.836 ICK Arina Puzriakova Tag for-review was removed from gene: ICK.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova Tag for-review was removed from gene: HMGA2.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova Tag for-review was removed from gene: HIST1H1E.
Fetal anomalies v1.836 HESX1 Arina Puzriakova Tag for-review was removed from gene: HESX1.
Fetal anomalies v1.836 HADHB Arina Puzriakova Tag for-review was removed from gene: HADHB.
Fetal anomalies v1.836 GZF1 Arina Puzriakova Tag for-review was removed from gene: GZF1.
Fetal anomalies v1.836 GSC Arina Puzriakova Tag for-review was removed from gene: GSC.
Fetal anomalies v1.836 GREB1L Arina Puzriakova Tag for-review was removed from gene: GREB1L.
Fetal anomalies v1.836 GPC6 Arina Puzriakova Tag for-review was removed from gene: GPC6.
Fetal anomalies v1.836 GMNN Arina Puzriakova Tag for-review was removed from gene: GMNN.
Fetal anomalies v1.836 GLI1 Arina Puzriakova Tag for-review was removed from gene: GLI1.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova Tag for-review was removed from gene: GFPT1.
Fetal anomalies v1.836 GATA3 Arina Puzriakova Tag for-review was removed from gene: GATA3.
Fetal anomalies v1.836 GANAB Arina Puzriakova Tag for-review was removed from gene: GANAB.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova Tag for-review was removed from gene: GALNT2.
Fetal anomalies v1.836 FZD2 Arina Puzriakova Tag for-review was removed from gene: FZD2.
Fetal anomalies v1.836 FUT8 Arina Puzriakova Tag for-review was removed from gene: FUT8.
Fetal anomalies v1.836 FLNC Arina Puzriakova Tag Q4_21_rating was removed from gene: FLNC.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova Tag for-review was removed from gene: FKBP10.
Fetal anomalies v1.836 FIG4 Arina Puzriakova Tag for-review was removed from gene: FIG4.
Fetal anomalies v1.836 FANCL Arina Puzriakova Tag for-review was removed from gene: FANCL.
Fetal anomalies v1.836 FAM46A Arina Puzriakova Tag for-review was removed from gene: FAM46A.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova Tag Q4_21_rating was removed from gene: EXTL3.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova Tag for-review was removed from gene: EXOC3L2.
Fetal anomalies v1.836 ENPP1 Arina Puzriakova Tag Q4_21_rating was removed from gene: ENPP1.
Fetal anomalies v1.836 EMX2 Arina Puzriakova Tag for-review was removed from gene: EMX2.
Fetal anomalies v1.836 EML1 Arina Puzriakova Tag for-review was removed from gene: EML1.
Fetal anomalies v1.836 EIF5A Arina Puzriakova Tag Q4_21_rating was removed from gene: EIF5A.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova Tag for-review was removed from gene: EIF2S3.
Fetal anomalies v1.836 EED Arina Puzriakova Tag for-review was removed from gene: EED.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova Tag for-review was removed from gene: DZIP1L.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova Tag for-review was removed from gene: DYNC2LI1.
Fetal anomalies v1.836 DPM3 Arina Puzriakova Tag for-review was removed from gene: DPM3.
Fetal anomalies v1.836 DPM2 Arina Puzriakova Tag for-review was removed from gene: DPM2.
Fetal anomalies v1.836 DONSON Arina Puzriakova Tag for-review was removed from gene: DONSON.
Fetal anomalies v1.836 DNM2 Arina Puzriakova Tag for-review was removed from gene: DNM2.
Fetal anomalies v1.836 DNM1L Arina Puzriakova Tag for-review was removed from gene: DNM1L.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova Tag for-review was removed from gene: DNAL1.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova Tag for-review was removed from gene: DNAJB11.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova Tag for-review was removed from gene: DNAAF5.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova Tag for-review was removed from gene: DNAI2.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova Tag for-review was removed from gene: DNAAF2.
Fetal anomalies v1.836 DLX5 Arina Puzriakova Tag for-review was removed from gene: DLX5.
Fetal anomalies v1.836 DISP1 Arina Puzriakova Tag for-review was removed from gene: DISP1.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova Tag for-review was removed from gene: DIAPH1.
Fetal anomalies v1.836 DENND5A Arina Puzriakova Tag for-review was removed from gene: DENND5A.
Fetal anomalies v1.836 DDX59 Arina Puzriakova Tag for-review was removed from gene: DDX59.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova Tag for-review was removed from gene: CYP4F22.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova Tag for-review was removed from gene: CYP26B1.
Fetal anomalies v1.836 CTU2 Arina Puzriakova Tag for-review was removed from gene: CTU2.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova Tag for-review was removed from gene: CTNND1.
Fetal anomalies v1.836 CSF1R Arina Puzriakova Tag Q4_21_rating was removed from gene: CSF1R.
Fetal anomalies v1.836 CRIPT Arina Puzriakova Tag for-review was removed from gene: CRIPT.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova Tag for-review was removed from gene: CREB3L1.
Fetal anomalies v1.836 CRADD Arina Puzriakova Tag Q4_21_rating was removed from gene: CRADD.
Fetal anomalies v1.836 COLQ Arina Puzriakova Tag for-review was removed from gene: COLQ.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova Tag for-review was removed from gene: COLEC10.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova Tag for-review was removed from gene: COL13A1.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova Tag for-review was removed from gene: COL12A1.
Fetal anomalies v1.836 COG6 Arina Puzriakova Tag for-review was removed from gene: COG6.
Fetal anomalies v1.836 COG5 Arina Puzriakova Tag for-review was removed from gene: COG5.
Fetal anomalies v1.836 CLP1 Arina Puzriakova Tag for-review was removed from gene: CLP1.
Fetal anomalies v1.836 CIT Arina Puzriakova Tag for-review was removed from gene: CIT.
Fetal anomalies v1.836 CHRNE Arina Puzriakova Tag for-review was removed from gene: CHRNE.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova Tag for-review was removed from gene: CHRNB1.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova Tag for-review was removed from gene: CHRNA3.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova Tag for-review was removed from gene: CHMP1A.
Fetal anomalies v1.836 CFL2 Arina Puzriakova Tag for-review was removed from gene: CFL2.
Fetal anomalies v1.836 CERS3 Arina Puzriakova Tag for-review was removed from gene: CERS3.
Fetal anomalies v1.836 CEP63 Arina Puzriakova Tag for-review was removed from gene: CEP63.
Fetal anomalies v1.836 CEP55 Arina Puzriakova Tag for-review was removed from gene: CEP55.
Fetal anomalies v1.836 CEP135 Arina Puzriakova Tag for-review was removed from gene: CEP135.
Fetal anomalies v1.836 CENPF Arina Puzriakova Tag for-review was removed from gene: CENPF.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova Tag for-review was removed from gene: CELSR1.
Fetal anomalies v1.836 CDK8 Arina Puzriakova Tag Q4_21_rating was removed from gene: CDK8.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova Tag for-review was removed from gene: CDK5RAP2.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova Tag for-review was removed from gene: CCDC88C.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova Tag for-review was removed from gene: CCDC8.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova Tag for-review was removed from gene: CCDC151.
Fetal anomalies v1.836 CASR Arina Puzriakova Tag for-review was removed from gene: CASR.
Fetal anomalies v1.836 CANT1 Arina Puzriakova Tag for-review was removed from gene: CANT1.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova Tag for-review was removed from gene: CACNA1G.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova Tag for-review was removed from gene: C2CD3.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova Tag for-review was removed from gene: C21orf59.
Fetal anomalies v1.836 BNC2 Arina Puzriakova Tag for-review was removed from gene: BNC2.
Fetal anomalies v1.836 B9D2 Arina Puzriakova Tag for-review was removed from gene: B9D2.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova Tag for-review was removed from gene: B4GAT1.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova Tag for-review was removed from gene: B3GALNT2.
Fetal anomalies v1.836 ATR Arina Puzriakova Tag for-review was removed from gene: ATR.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova Tag for-review was removed from gene: ATP1A2.
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 ANTXR2 Arina Puzriakova Tag for-review was removed from gene: ANTXR2.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova Tag for-review was removed from gene: ANKS6.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova Tag for-review was removed from gene: AMMECR1.
Fetal anomalies v1.836 AMACR Arina Puzriakova Tag for-review was removed from gene: AMACR.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova Tag for-review was removed from gene: ALOXE3.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova Tag for-review was removed from gene: ALOX12B.
Fetal anomalies v1.836 ALG9 Arina Puzriakova Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.836 ALG2 Arina Puzriakova Tag for-review was removed from gene: ALG2.
Fetal anomalies v1.836 AKT2 Arina Puzriakova Tag for-review was removed from gene: AKT2.
Fetal anomalies v1.836 AHCY Arina Puzriakova Tag for-review was removed from gene: AHCY.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova Tag for-review was removed from gene: ADAMTS3.
Fetal anomalies v1.836 ABL1 Arina Puzriakova Tag for-review was removed from gene: ABL1.
Fetal anomalies v1.836 ZSWIM6 Arina Puzriakova commented on gene: ZSWIM6
Fetal anomalies v1.836 ZMYND10 Arina Puzriakova commented on gene: ZMYND10
Fetal anomalies v1.836 XYLT2 Arina Puzriakova commented on gene: XYLT2
Fetal anomalies v1.836 WDR81 Arina Puzriakova commented on gene: WDR81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 WDR73 Arina Puzriakova commented on gene: WDR73
Fetal anomalies v1.836 VRK1 Arina Puzriakova commented on gene: VRK1
Fetal anomalies v1.836 VEGFC Arina Puzriakova commented on gene: VEGFC
Fetal anomalies v1.836 VAMP1 Arina Puzriakova commented on gene: VAMP1
Fetal anomalies v1.836 USP9X Arina Puzriakova commented on gene: USP9X
Fetal anomalies v1.836 USP18 Arina Puzriakova commented on gene: USP18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 UBE2T Arina Puzriakova commented on gene: UBE2T
Fetal anomalies v1.836 TXNDC15 Arina Puzriakova commented on gene: TXNDC15
Fetal anomalies v1.836 TUBGCP4 Arina Puzriakova commented on gene: TUBGCP4
Fetal anomalies v1.836 TUBG1 Arina Puzriakova commented on gene: TUBG1
Fetal anomalies v1.836 TUBB3 Arina Puzriakova commented on gene: TUBB3
Fetal anomalies v1.836 TSFM Arina Puzriakova commented on gene: TSFM
Fetal anomalies v1.836 TSEN34 Arina Puzriakova commented on gene: TSEN34
Fetal anomalies v1.836 TSEN2 Arina Puzriakova commented on gene: TSEN2
Fetal anomalies v1.836 TRMT10A Arina Puzriakova commented on gene: TRMT10A
Fetal anomalies v1.836 TRAPPC12 Arina Puzriakova commented on gene: TRAPPC12: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TRAP1 Arina Puzriakova commented on gene: TRAP1
Fetal anomalies v1.836 TRAIP Arina Puzriakova commented on gene: TRAIP
Fetal anomalies v1.836 TRAF3IP1 Arina Puzriakova commented on gene: TRAF3IP1
Fetal anomalies v1.836 TOR1A Arina Puzriakova commented on gene: TOR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TOE1 Arina Puzriakova commented on gene: TOE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TNNT3 Arina Puzriakova commented on gene: TNNT3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMX2 Arina Puzriakova commented on gene: TMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM98 Arina Puzriakova commented on gene: TMEM98: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM38B Arina Puzriakova commented on gene: TMEM38B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM216 Arina Puzriakova commented on gene: TMEM216: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TMEM107 Arina Puzriakova commented on gene: TMEM107: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TENM3 Arina Puzriakova commented on gene: TENM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TELO2 Arina Puzriakova commented on gene: TELO2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TCTEX1D2 Arina Puzriakova commented on gene: TCTEX1D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 TBC1D32 Arina Puzriakova commented on gene: TBC1D32: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SULT2B1 Arina Puzriakova commented on gene: SULT2B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SUFU Arina Puzriakova commented on gene: SUFU: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STRADA Arina Puzriakova commented on gene: STRADA: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STIL Arina Puzriakova commented on gene: STIL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 STAC3 Arina Puzriakova commented on gene: STAC3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ST14 Arina Puzriakova commented on gene: ST14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SPECC1L Arina Puzriakova commented on gene: SPECC1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
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 SP7 Arina Puzriakova commented on gene: SP7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX6 Arina Puzriakova commented on gene: SOX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SOX18 Arina Puzriakova commented on gene: SOX18: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SNX10 Arina Puzriakova commented on gene: SNX10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMS Arina Puzriakova commented on gene: SMS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMPD4 Arina Puzriakova commented on gene: SMPD4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SMG9 Arina Puzriakova commented on gene: SMG9
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 SLC6A9 Arina Puzriakova commented on gene: SLC6A9: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC5A7 Arina Puzriakova commented on gene: SLC5A7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC29A3 Arina Puzriakova commented on gene: SLC29A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC25A19 Arina Puzriakova commented on gene: SLC25A19: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SLC18A3 Arina Puzriakova commented on gene: SLC18A3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SIX6 Arina Puzriakova commented on gene: SIX6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SHANK3 Arina Puzriakova commented on gene: SHANK3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SGCG Arina Puzriakova commented on gene: SGCG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINH1 Arina Puzriakova commented on gene: SERPINH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SERPINF1 Arina Puzriakova commented on gene: SERPINF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SEC24D Arina Puzriakova commented on gene: SEC24D
Fetal anomalies v1.836 SDR9C7 Arina Puzriakova commented on gene: SDR9C7
Fetal anomalies v1.836 SCN1A Arina Puzriakova commented on gene: SCN1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 SCLT1 Arina Puzriakova commented on gene: SCLT1
Fetal anomalies v1.836 RSPH9 Arina Puzriakova commented on gene: RSPH9
Fetal anomalies v1.836 RSPH4A Arina Puzriakova commented on gene: RSPH4A
Fetal anomalies v1.836 RRAS2 Arina Puzriakova commented on gene: RRAS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS7 Arina Puzriakova commented on gene: RPS7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPS24 Arina Puzriakova commented on gene: RPS24: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL35A Arina Puzriakova commented on gene: RPL35A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RPL10 Arina Puzriakova commented on gene: RPL10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ROBO3 Arina Puzriakova commented on gene: ROBO3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RFT1 Arina Puzriakova commented on gene: RFT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBM10 Arina Puzriakova commented on gene: RBM10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RBBP8 Arina Puzriakova commented on gene: RBBP8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 RAB33B Arina Puzriakova commented on gene: RAB33B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PYGM Arina Puzriakova commented on gene: PYGM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PTPN14 Arina Puzriakova commented on gene: PTPN14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PSAT1 Arina Puzriakova commented on gene: PSAT1
Fetal anomalies v1.836 PRUNE1 Arina Puzriakova commented on gene: PRUNE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRKAG2 Arina Puzriakova commented on gene: PRKAG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PRIM1 Arina Puzriakova commented on gene: PRIM1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POP1 Arina Puzriakova commented on gene: POP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1B Arina Puzriakova commented on gene: POLR1B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLR1A Arina Puzriakova commented on gene: POLR1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLG2 Arina Puzriakova commented on gene: POLG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 POLE Arina Puzriakova commented on gene: POLE
Fetal anomalies v1.836 PNPLA1 Arina Puzriakova commented on gene: PNPLA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLG Arina Puzriakova commented on gene: PLG: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PLAG1 Arina Puzriakova commented on gene: PLAG1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PITX1 Arina Puzriakova commented on gene: PITX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIK3C2A Arina Puzriakova commented on gene: PIK3C2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIH1D3 Arina Puzriakova commented on gene: PIH1D3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIGN Arina Puzriakova commented on gene: PIGN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PIBF1 Arina Puzriakova commented on gene: PIBF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PGM3 Arina Puzriakova commented on gene: PGM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PFKM Arina Puzriakova commented on gene: PFKM: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PBX1 Arina Puzriakova commented on gene: PBX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 PAX7 Arina Puzriakova commented on gene: PAX7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 P4HB Arina Puzriakova commented on gene: P4HB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 OSGEP Arina Puzriakova commented on gene: OSGEP: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NXN Arina Puzriakova commented on gene: NXN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NIPAL4 Arina Puzriakova commented on gene: NIPAL4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEK8 Arina Puzriakova commented on gene: NEK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NEDD4L Arina Puzriakova commented on gene: NEDD4L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NECTIN1 Arina Puzriakova commented on gene: NECTIN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 NADSYN1 Arina Puzriakova commented on gene: NADSYN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYPN Arina Puzriakova commented on gene: MYPN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYOCD Arina Puzriakova commented on gene: MYOCD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO9A Arina Puzriakova commented on gene: MYO9A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYO18B Arina Puzriakova commented on gene: MYO18B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYMK Arina Puzriakova commented on gene: MYMK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYL1 Arina Puzriakova commented on gene: MYL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH7 Arina Puzriakova commented on gene: MYH7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MYH2 Arina Puzriakova commented on gene: MYH2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSTO1 Arina Puzriakova commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MSMO1 Arina Puzriakova commented on gene: MSMO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MRAS Arina Puzriakova commented on gene: MRAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MOGS Arina Puzriakova commented on gene: MOGS: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MN1 Arina Puzriakova commented on gene: MN1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MESD Arina Puzriakova commented on gene: MESD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEOX1 Arina Puzriakova commented on gene: MEOX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MEIS2 Arina Puzriakova commented on gene: MEIS2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K7 Arina Puzriakova commented on gene: MAP3K7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MAP3K20 Arina Puzriakova commented on gene: MAP3K20: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 MACF1 Arina Puzriakova commented on gene: MACF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LRRC56 Arina Puzriakova commented on gene: LRRC56: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LONP1 Arina Puzriakova commented on gene: LONP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB2 Arina Puzriakova commented on gene: LMNB2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LMNB1 Arina Puzriakova commented on gene: LMNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 LAMB1 Arina Puzriakova commented on gene: LAMB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KNL1 Arina Puzriakova commented on gene: KNL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KLHL7 Arina Puzriakova commented on gene: KLHL7: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF5C Arina Puzriakova commented on gene: KIF5C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF2A Arina Puzriakova commented on gene: KIF2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIF14 Arina Puzriakova commented on gene: KIF14: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KIAA0753 Arina Puzriakova commented on gene: KIAA0753: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 KATNB1 Arina Puzriakova commented on gene: KATNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ITGA8 Arina Puzriakova commented on gene: ITGA8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT81 Arina Puzriakova commented on gene: IFT81: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IFT52 Arina Puzriakova commented on gene: IFT52: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 IDH1 Arina Puzriakova commented on gene: IDH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ICK Arina Puzriakova commented on gene: ICK: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HMGA2 Arina Puzriakova commented on gene: HMGA2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HIST1H1E Arina Puzriakova commented on gene: HIST1H1E: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HESX1 Arina Puzriakova commented on gene: HESX1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 HADHB Arina Puzriakova commented on gene: HADHB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GZF1 Arina Puzriakova commented on gene: GZF1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GSC Arina Puzriakova commented on gene: GSC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GREB1L Arina Puzriakova commented on gene: GREB1L
Fetal anomalies v1.836 GPC6 Arina Puzriakova commented on gene: GPC6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GMNN Arina Puzriakova commented on gene: GMNN: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GLI1 Arina Puzriakova commented on gene: GLI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GFPT1 Arina Puzriakova commented on gene: GFPT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GATA3 Arina Puzriakova commented on gene: GATA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GANAB Arina Puzriakova commented on gene: GANAB: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 GALNT2 Arina Puzriakova commented on gene: GALNT2
Fetal anomalies v1.836 FZD2 Arina Puzriakova commented on gene: FZD2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FUT8 Arina Puzriakova commented on gene: FUT8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FLNC Arina Puzriakova commented on gene: FLNC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FKBP10 Arina Puzriakova commented on gene: FKBP10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FIG4 Arina Puzriakova commented on gene: FIG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FANCL Arina Puzriakova commented on gene: FANCL: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 FAM46A Arina Puzriakova commented on gene: FAM46A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXTL3 Arina Puzriakova commented on gene: EXTL3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EXOC3L2 Arina Puzriakova commented on gene: EXOC3L2
Fetal anomalies v1.836 ENPP1 Arina Puzriakova commented on gene: ENPP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EMX2 Arina Puzriakova commented on gene: EMX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EML1 Arina Puzriakova commented on gene: EML1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF5A Arina Puzriakova commented on gene: EIF5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EIF2S3 Arina Puzriakova commented on gene: EIF2S3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 EED Arina Puzriakova commented on gene: EED: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DZIP1L Arina Puzriakova commented on gene: DZIP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DYNC2LI1 Arina Puzriakova commented on gene: DYNC2LI1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM3 Arina Puzriakova commented on gene: DPM3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DPM2 Arina Puzriakova commented on gene: DPM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DONSON Arina Puzriakova commented on gene: DONSON: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM2 Arina Puzriakova commented on gene: DNM2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNM1L Arina Puzriakova commented on gene: DNM1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAL1 Arina Puzriakova commented on gene: DNAL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAJB11 Arina Puzriakova commented on gene: DNAJB11: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAI2 Arina Puzriakova commented on gene: DNAI2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF5 Arina Puzriakova commented on gene: DNAAF5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DNAAF2 Arina Puzriakova commented on gene: DNAAF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DLX5 Arina Puzriakova commented on gene: DLX5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DISP1 Arina Puzriakova commented on gene: DISP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DIAPH1 Arina Puzriakova commented on gene: DIAPH1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DENND5A Arina Puzriakova commented on gene: DENND5A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 DDX59 Arina Puzriakova commented on gene: DDX59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP4F22 Arina Puzriakova commented on gene: CYP4F22: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CYP26B1 Arina Puzriakova commented on gene: CYP26B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTU2 Arina Puzriakova commented on gene: CTU2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CTNND1 Arina Puzriakova commented on gene: CTNND1
Fetal anomalies v1.836 CSF1R Arina Puzriakova commented on gene: CSF1R: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRIPT Arina Puzriakova commented on gene: CRIPT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CREB3L1 Arina Puzriakova commented on gene: CREB3L1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CRADD Arina Puzriakova commented on gene: CRADD: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLQ Arina Puzriakova commented on gene: COLQ: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COLEC10 Arina Puzriakova commented on gene: COLEC10: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL13A1 Arina Puzriakova commented on gene: COL13A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COL12A1 Arina Puzriakova commented on gene: COL12A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG6 Arina Puzriakova commented on gene: COG6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 COG5 Arina Puzriakova commented on gene: COG5: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CLP1 Arina Puzriakova commented on gene: CLP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CIT Arina Puzriakova commented on gene: CIT: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNE Arina Puzriakova commented on gene: CHRNE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNB1 Arina Puzriakova commented on gene: CHRNB1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHRNA3 Arina Puzriakova commented on gene: CHRNA3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CHMP1A Arina Puzriakova commented on gene: CHMP1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CFL2 Arina Puzriakova commented on gene: CFL2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CERS3 Arina Puzriakova commented on gene: CERS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP63 Arina Puzriakova commented on gene: CEP63: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CEP55 Arina Puzriakova commented on gene: CEP55
Fetal anomalies v1.836 CEP135 Arina Puzriakova commented on gene: CEP135: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CENPF Arina Puzriakova commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CELSR1 Arina Puzriakova commented on gene: CELSR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK8 Arina Puzriakova commented on gene: CDK8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CDK5RAP2 Arina Puzriakova commented on gene: CDK5RAP2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC88C Arina Puzriakova commented on gene: CCDC88C: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC8 Arina Puzriakova commented on gene: CCDC8: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CCDC151 Arina Puzriakova commented on gene: CCDC151: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CASR Arina Puzriakova commented on gene: CASR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CANT1 Arina Puzriakova commented on gene: CANT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 CACNA1G Arina Puzriakova commented on gene: CACNA1G: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C2CD3 Arina Puzriakova commented on gene: C2CD3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 C21orf59 Arina Puzriakova commented on gene: C21orf59: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 BNC2 Arina Puzriakova commented on gene: BNC2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B9D2 Arina Puzriakova commented on gene: B9D2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B4GAT1 Arina Puzriakova commented on gene: B4GAT1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 B3GALNT2 Arina Puzriakova commented on gene: B3GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATR Arina Puzriakova commented on gene: ATR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ATP1A2 Arina Puzriakova commented on gene: ATP1A2: 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 v1.836 ANTXR2 Arina Puzriakova commented on gene: ANTXR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ANKS6 Arina Puzriakova commented on gene: ANKS6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMMECR1 Arina Puzriakova commented on gene: AMMECR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AMACR Arina Puzriakova commented on gene: AMACR: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOXE3 Arina Puzriakova commented on gene: ALOXE3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALOX12B Arina Puzriakova commented on gene: ALOX12B: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ALG9 Arina Puzriakova commented on gene: ALG9
Fetal anomalies v1.836 ALG2 Arina Puzriakova commented on gene: ALG2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AKT2 Arina Puzriakova commented on gene: AKT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 AHCY Arina Puzriakova commented on gene: AHCY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ADAMTS3 Arina Puzriakova commented on gene: ADAMTS3: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.836 ABL1 Arina Puzriakova commented on gene: ABL1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Fetal anomalies v1.835 ZSWIM6 Arina Puzriakova Source Expert Review Green was added to ZSWIM6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ZMYND10 Arina Puzriakova Source Expert Review Green was added to ZMYND10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 XYLT2 Arina Puzriakova Source Expert Review Green was added to XYLT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR81 Arina Puzriakova Source Expert Review Green was added to WDR81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 WDR73 Arina Puzriakova Source Expert Review Green was added to WDR73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VRK1 Arina Puzriakova Source Expert Review Green was added to VRK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VEGFC Arina Puzriakova Source Expert Review Green was added to VEGFC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 VAMP1 Arina Puzriakova Source Expert Review Green was added to VAMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 USP9X Arina Puzriakova Source Expert Review Green was added to USP9X.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 USP18 Arina Puzriakova Source Expert Review Green was added to USP18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 UBE2T Arina Puzriakova Source Expert Review Green was added to UBE2T.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TXNDC15 Arina Puzriakova Source Expert Review Green was added to TXNDC15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBGCP4 Arina Puzriakova Source Expert Review Green was added to TUBGCP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBG1 Arina Puzriakova Source Expert Review Green was added to TUBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TUBB3 Arina Puzriakova Source Expert Review Green was added to TUBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSFM Arina Puzriakova Source Expert Review Green was added to TSFM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN34 Arina Puzriakova Source Expert Review Green was added to TSEN34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TSEN2 Arina Puzriakova Source Expert Review Green was added to TSEN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRMT10A Arina Puzriakova Source Expert Review Green was added to TRMT10A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAPPC12 Arina Puzriakova Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAP1 Arina Puzriakova Source Expert Review Green was added to TRAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAIP Arina Puzriakova Source Expert Review Green was added to TRAIP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TRAF3IP1 Arina Puzriakova Source Expert Review Green was added to TRAF3IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOR1A Arina Puzriakova Source Expert Review Green was added to TOR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TOE1 Arina Puzriakova Source Expert Review Green was added to TOE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TNNT3 Arina Puzriakova Source Expert Review Green was added to TNNT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMX2 Arina Puzriakova Source Expert Review Green was added to TMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM98 Arina Puzriakova Source Expert Review Green was added to TMEM98.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM38B Arina Puzriakova Source Expert Review Green was added to TMEM38B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM216 Arina Puzriakova Source Expert Review Green was added to TMEM216.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TMEM107 Arina Puzriakova Source Expert Review Green was added to TMEM107.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TENM3 Arina Puzriakova Source Expert Review Green was added to TENM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TELO2 Arina Puzriakova Source Expert Review Green was added to TELO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TCTEX1D2 Arina Puzriakova Source Expert Review Green was added to TCTEX1D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 TBC1D32 Arina Puzriakova Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SULT2B1 Arina Puzriakova Source Expert Review Green was added to SULT2B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SUFU Arina Puzriakova Source Expert Review Green was added to SUFU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STRADA Arina Puzriakova Source Expert Review Green was added to STRADA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STIL Arina Puzriakova Source Expert Review Green was added to STIL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 STAC3 Arina Puzriakova Source Expert Review Green was added to STAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ST14 Arina Puzriakova Source Expert Review Green was added to ST14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SPECC1L Arina Puzriakova Source Expert Review Green was added to SPECC1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
Fetal anomalies v1.835 SP7 Arina Puzriakova Source Expert Review Green was added to SP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX6 Arina Puzriakova Source Expert Review Green was added to SOX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SOX18 Arina Puzriakova Source Expert Review Green was added to SOX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SNX10 Arina Puzriakova Source Expert Review Green was added to SNX10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMS Arina Puzriakova Source Expert Review Green was added to SMS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMPD4 Arina Puzriakova Source Expert Review Green was added to SMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SMG9 Arina Puzriakova Source Expert Review Green was added to SMG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
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)
Fetal anomalies v1.835 SLC6A9 Arina Puzriakova Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC5A7 Arina Puzriakova Source Expert Review Green was added to SLC5A7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC29A3 Arina Puzriakova Source Expert Review Green was added to SLC29A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC25A19 Arina Puzriakova Source Expert Review Green was added to SLC25A19.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SLC18A3 Arina Puzriakova Source Expert Review Green was added to SLC18A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SIX6 Arina Puzriakova Source Expert Review Green was added to SIX6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SHANK3 Arina Puzriakova Source Expert Review Green was added to SHANK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SGCG Arina Puzriakova Source Expert Review Green was added to SGCG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINH1 Arina Puzriakova Source Expert Review Green was added to SERPINH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SERPINF1 Arina Puzriakova Source Expert Review Green was added to SERPINF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SEC24D Arina Puzriakova Source Expert Review Green was added to SEC24D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SDR9C7 Arina Puzriakova Source Expert Review Green was added to SDR9C7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCN1A Arina Puzriakova Source Expert Review Green was added to SCN1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v1.835 SCLT1 Arina Puzriakova Source Expert Review Green was added to SCLT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH9 Arina Puzriakova Source Expert Review Green was added to RSPH9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RSPH4A Arina Puzriakova Source Expert Review Green was added to RSPH4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RRAS2 Arina Puzriakova Source Expert Review Green was added to RRAS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS7 Arina Puzriakova Source Expert Review Green was added to RPS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPS24 Arina Puzriakova Source Expert Review Green was added to RPS24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL35A Arina Puzriakova Source Expert Review Green was added to RPL35A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RPL10 Arina Puzriakova Source Expert Review Green was added to RPL10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ROBO3 Arina Puzriakova Source Expert Review Green was added to ROBO3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RFT1 Arina Puzriakova Source Expert Review Green was added to RFT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBM10 Arina Puzriakova Source Expert Review Green was added to RBM10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RBBP8 Arina Puzriakova Source Expert Review Green was added to RBBP8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 RAB33B Arina Puzriakova Source Expert Review Green was added to RAB33B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PYGM Arina Puzriakova Source Expert Review Green was added to PYGM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PTPN14 Arina Puzriakova Source Expert Review Green was added to PTPN14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PSAT1 Arina Puzriakova Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRUNE1 Arina Puzriakova Source Expert Review Green was added to PRUNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRKAG2 Arina Puzriakova Source Expert Review Green was added to PRKAG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PRIM1 Arina Puzriakova Source Expert Review Green was added to PRIM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POP1 Arina Puzriakova Source Expert Review Green was added to POP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1B Arina Puzriakova Source Expert Review Green was added to POLR1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLR1A Arina Puzriakova Source Expert Review Green was added to POLR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLG2 Arina Puzriakova Source Expert Review Green was added to POLG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PNPLA1 Arina Puzriakova Source Expert Review Green was added to PNPLA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLG Arina Puzriakova Source Expert Review Green was added to PLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PLAG1 Arina Puzriakova Source Expert Review Green was added to PLAG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PITX1 Arina Puzriakova Source Expert Review Green was added to PITX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIK3C2A Arina Puzriakova Source Expert Review Green was added to PIK3C2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIH1D3 Arina Puzriakova Source Expert Review Green was added to PIH1D3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIGN Arina Puzriakova Source Expert Review Green was added to PIGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PIBF1 Arina Puzriakova Source Expert Review Green was added to PIBF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PGM3 Arina Puzriakova Source Expert Review Green was added to PGM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PFKM Arina Puzriakova Source Expert Review Green was added to PFKM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PBX1 Arina Puzriakova Source Expert Review Green was added to PBX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 PAX7 Arina Puzriakova Source Expert Review Green was added to PAX7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 P4HB Arina Puzriakova Source Expert Review Green was added to P4HB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 OSGEP Arina Puzriakova Source Expert Review Green was added to OSGEP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NXN Arina Puzriakova Source Expert Review Green was added to NXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NIPAL4 Arina Puzriakova Source Expert Review Green was added to NIPAL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEK8 Arina Puzriakova Source Expert Review Green was added to NEK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NEDD4L Arina Puzriakova Source Expert Review Green was added to NEDD4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NECTIN1 Arina Puzriakova Source Expert Review Green was added to NECTIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 NADSYN1 Arina Puzriakova Source Expert Review Green was added to NADSYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYPN Arina Puzriakova Source Expert Review Green was added to MYPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYOCD Arina Puzriakova Source Expert Review Green was added to MYOCD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO9A Arina Puzriakova Source Expert Review Green was added to MYO9A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYO18B Arina Puzriakova Source Expert Review Green was added to MYO18B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYMK Arina Puzriakova Source Expert Review Green was added to MYMK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYL1 Arina Puzriakova Source Expert Review Green was added to MYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYH7 Arina Puzriakova Source Expert Review Green was added to MYH7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MYH2 Arina Puzriakova Source Expert Review Green was added to MYH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSTO1 Arina Puzriakova Source Expert Review Green was added to MSTO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MSMO1 Arina Puzriakova Source Expert Review Green was added to MSMO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MRAS Arina Puzriakova Source Expert Review Green was added to MRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MOGS Arina Puzriakova Source Expert Review Green was added to MOGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MN1 Arina Puzriakova Source Expert Review Green was added to MN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MESD Arina Puzriakova Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEOX1 Arina Puzriakova Source Expert Review Green was added to MEOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MEIS2 Arina Puzriakova Source Expert Review Green was added to MEIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K7 Arina Puzriakova Source Expert Review Green was added to MAP3K7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MAP3K20 Arina Puzriakova Source Expert Review Green was added to MAP3K20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 MACF1 Arina Puzriakova Source Expert Review Green was added to MACF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LRRC56 Arina Puzriakova Source Expert Review Green was added to LRRC56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LONP1 Arina Puzriakova Source Expert Review Green was added to LONP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB2 Arina Puzriakova Source Expert Review Green was added to LMNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LMNB1 Arina Puzriakova Source Expert Review Green was added to LMNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 LAMB1 Arina Puzriakova Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KNL1 Arina Puzriakova Source Expert Review Green was added to KNL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KLHL7 Arina Puzriakova Source Expert Review Green was added to KLHL7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF5C Arina Puzriakova Source Expert Review Green was added to KIF5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF2A Arina Puzriakova Source Expert Review Green was added to KIF2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIF14 Arina Puzriakova Source Expert Review Green was added to KIF14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KIAA0753 Arina Puzriakova Source Expert Review Green was added to KIAA0753.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 KATNB1 Arina Puzriakova Source Expert Review Green was added to KATNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ITGA8 Arina Puzriakova Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT81 Arina Puzriakova Source Expert Review Green was added to IFT81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IFT52 Arina Puzriakova Source Expert Review Green was added to IFT52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 IDH1 Arina Puzriakova Source Expert Review Green was added to IDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ICK Arina Puzriakova Source Expert Review Green was added to ICK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HMGA2 Arina Puzriakova Source Expert Review Green was added to HMGA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HIST1H1E Arina Puzriakova Source Expert Review Green was added to HIST1H1E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HESX1 Arina Puzriakova Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 HADHB Arina Puzriakova Source Expert Review Green was added to HADHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GZF1 Arina Puzriakova Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GSC Arina Puzriakova Source Expert Review Green was added to GSC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GREB1L Arina Puzriakova Source Expert Review Green was added to GREB1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GPC6 Arina Puzriakova Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GMNN Arina Puzriakova Source Expert Review Green was added to GMNN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GLI1 Arina Puzriakova Source Expert Review Green was added to GLI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GFPT1 Arina Puzriakova Source Expert Review Green was added to GFPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GATA3 Arina Puzriakova Source Expert Review Green was added to GATA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GANAB Arina Puzriakova Source Expert Review Green was added to GANAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 GALNT2 Arina Puzriakova Source Expert Review Green was added to GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FZD2 Arina Puzriakova Source Expert Review Green was added to FZD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FUT8 Arina Puzriakova Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FLNC Arina Puzriakova Source Expert Review Green was added to FLNC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FKBP10 Arina Puzriakova Source Expert Review Green was added to FKBP10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FIG4 Arina Puzriakova Source Expert Review Green was added to FIG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FANCL Arina Puzriakova Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 FAM46A Arina Puzriakova Source Expert Review Green was added to FAM46A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXTL3 Arina Puzriakova Source Expert Review Green was added to EXTL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EXOC3L2 Arina Puzriakova Source Expert Review Green was added to EXOC3L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ENPP1 Arina Puzriakova Source Expert Review Green was added to ENPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EMX2 Arina Puzriakova Source Expert Review Green was added to EMX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EML1 Arina Puzriakova Source Expert Review Green was added to EML1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF5A Arina Puzriakova Source Expert Review Green was added to EIF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EIF2S3 Arina Puzriakova Source Expert Review Green was added to EIF2S3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 EED Arina Puzriakova Source Expert Review Green was added to EED.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DZIP1L Arina Puzriakova Source Expert Review Green was added to DZIP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DYNC2LI1 Arina Puzriakova Source Expert Review Green was added to DYNC2LI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM3 Arina Puzriakova Source Expert Review Green was added to DPM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DPM2 Arina Puzriakova Source Expert Review Green was added to DPM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DONSON Arina Puzriakova Source Expert Review Green was added to DONSON.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNM2 Arina Puzriakova Source Expert Review Green was added to DNM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNM1L Arina Puzriakova Source Expert Review Green was added to DNM1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAL1 Arina Puzriakova Source Expert Review Green was added to DNAL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAJB11 Arina Puzriakova Source Expert Review Green was added to DNAJB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAI2 Arina Puzriakova Source Expert Review Green was added to DNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF5 Arina Puzriakova Source Expert Review Green was added to DNAAF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DNAAF2 Arina Puzriakova Source Expert Review Green was added to DNAAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DLX5 Arina Puzriakova Source Expert Review Green was added to DLX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DISP1 Arina Puzriakova Source Expert Review Green was added to DISP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DIAPH1 Arina Puzriakova Source Expert Review Green was added to DIAPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DENND5A Arina Puzriakova Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 DDX59 Arina Puzriakova Source Expert Review Green was added to DDX59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP4F22 Arina Puzriakova Source Expert Review Green was added to CYP4F22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CYP26B1 Arina Puzriakova Source Expert Review Green was added to CYP26B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTU2 Arina Puzriakova Source Expert Review Green was added to CTU2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CTNND1 Arina Puzriakova Source Expert Review Green was added to CTNND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CSF1R Arina Puzriakova Source Expert Review Green was added to CSF1R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRIPT Arina Puzriakova Source Expert Review Green was added to CRIPT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CREB3L1 Arina Puzriakova Source Expert Review Green was added to CREB3L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CRADD Arina Puzriakova Source Expert Review Green was added to CRADD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLQ Arina Puzriakova Source Expert Review Green was added to COLQ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COLEC10 Arina Puzriakova Source Expert Review Green was added to COLEC10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL13A1 Arina Puzriakova Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COL12A1 Arina Puzriakova Source Expert Review Green was added to COL12A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG6 Arina Puzriakova Source Expert Review Green was added to COG6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 COG5 Arina Puzriakova Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CLP1 Arina Puzriakova Source Expert Review Green was added to CLP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CIT Arina Puzriakova Source Expert Review Green was added to CIT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNE Arina Puzriakova Source Expert Review Green was added to CHRNE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNB1 Arina Puzriakova Source Expert Review Green was added to CHRNB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHRNA3 Arina Puzriakova Source Expert Review Green was added to CHRNA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CHMP1A Arina Puzriakova Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CFL2 Arina Puzriakova Source Expert Review Green was added to CFL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CERS3 Arina Puzriakova Source Expert Review Green was added to CERS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP63 Arina Puzriakova Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP55 Arina Puzriakova Source Expert Review Green was added to CEP55.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CEP135 Arina Puzriakova Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CENPF Arina Puzriakova Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK8 Arina Puzriakova Source Expert Review Green was added to CDK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CDK5RAP2 Arina Puzriakova Source Expert Review Green was added to CDK5RAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC88C Arina Puzriakova Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC8 Arina Puzriakova Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CCDC151 Arina Puzriakova Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CASR Arina Puzriakova Source Expert Review Green was added to CASR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CANT1 Arina Puzriakova Source Expert Review Green was added to CANT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 CACNA1G Arina Puzriakova Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C2CD3 Arina Puzriakova Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 C21orf59 Arina Puzriakova Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 BNC2 Arina Puzriakova Source Expert Review Green was added to BNC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B9D2 Arina Puzriakova Source Expert Review Green was added to B9D2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B4GAT1 Arina Puzriakova Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 B3GALNT2 Arina Puzriakova Source Expert Review Green was added to B3GALNT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATR Arina Puzriakova Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ATP1A2 Arina Puzriakova Source Expert Review Green was added to ATP1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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)
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)
Fetal anomalies v1.835 ANTXR2 Arina Puzriakova Source Expert Review Green was added to ANTXR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ANKS6 Arina Puzriakova Source Expert Review Green was added to ANKS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMMECR1 Arina Puzriakova Source Expert Review Green was added to AMMECR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AMACR Arina Puzriakova Source Expert Review Green was added to AMACR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOXE3 Arina Puzriakova Source Expert Review Green was added to ALOXE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALOX12B Arina Puzriakova Source Expert Review Green was added to ALOX12B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG9 Arina Puzriakova Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ALG2 Arina Puzriakova Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AKT2 Arina Puzriakova Source Expert Review Green was added to AKT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 AHCY Arina Puzriakova Source Expert Review Green was added to AHCY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ADAMTS3 Arina Puzriakova Source Expert Review Green was added to ADAMTS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.835 ABL1 Arina Puzriakova Source Expert Review Green was added to ABL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v1.834 LTBP3 Eleanor Williams Mode of inheritance for gene: LTBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.833 LTBP3 Eleanor Williams Tag Q1_22_MOI tag was added to gene: LTBP3.
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 v1.832 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347
Fetal anomalies v1.831 HSF4 Arina Puzriakova Tag Q1_22_MOI tag was added to gene: HSF4.
Fetal anomalies v1.831 HSF4 Arina Puzriakova Publications for gene: HSF4 were set to
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 v1.830 HSF4 Arina Puzriakova Mode of inheritance for gene: HSF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v1.828 KLF1 Arina Puzriakova Phenotypes for gene: KLF1 were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV; Hydrops Fetalis to Dyserythropoietic anemia, congenital, type IV, OMIM:613673; Hydrops Fetalis
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
Fetal anomalies v1.827 ANTXR1 Arina Puzriakova Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, OMIM:230740
Fetal anomalies v1.826 MYL9 Zornitza Stark changed review comment from: unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; to: Three unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641
Fetal anomalies v1.826 MYL9 Zornitza Stark edited their review of gene: MYL9: Added comment: unrelated families

Possibly 4th in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed rating: GREEN; Changed publications to: 29453416, 33031641, 32621347, 33264186; Changed phenotypes to: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365
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
Fetal anomalies v1.826 CNBP Arina Puzriakova commented on gene: CNBP: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. Confirmed with Rhiannon Mellis (GOSH) that the CNBP gene should remain as Red.
Fetal anomalies v1.826 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Myopathy due to CPT II deficiency 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Fetal anomalies v1.825 PSMB8 Arina Puzriakova Phenotypes for gene: PSMB8 were changed from NAKAJO SYNDROME to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Fetal anomalies v1.824 OTULIN Arina Puzriakova Phenotypes for gene: OTULIN were changed from Otulin-related auto inflammatory syndrome to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
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 Tag Q1_22_rating tag was added to gene: TLL1.
Fetal anomalies v1.822 TLL1 Ivone Leong Entity copied from Familial non syndromic congenital heart disease v1.70
Fetal anomalies v1.822 TLL1 Ivone Leong gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert Review Amber,Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 10331975; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6, OMIM:613087
Penetrance for gene: TLL1 were set to Complete
Fetal anomalies v1.821 HEXB Arina Puzriakova Phenotypes for gene: HEXB were changed from GM2-GANGLIOSIDOSIS TYPE 2 to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Fetal anomalies v1.820 KIDINS220 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: KIDINS220.
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 v1.819 PHF6 Ivone Leong Tag Q4_21_MOI tag was added to gene: PHF6.
Fetal anomalies v1.819 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; 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 v1.819 PHF6 Ivone Leong Publications for gene: PHF6 were set to
Fetal anomalies v1.818 PHF6 Ivone Leong Phenotypes for gene: PHF6 were changed from BOERJESON-FORSSMAN-LEHMANN SYNDROME to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
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 v1.814 HPRT1 Arina Puzriakova Phenotypes for gene: HPRT1 were changed from LESCH-NYHAN SYNDROME; GOUT HPRT-RELATED to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322
Fetal anomalies v1.813 KIDINS220 Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501)
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 v1.812 CLPB Arina Puzriakova Tag Q4_21_expert_review tag was added to gene: CLPB.
Tag Q4_21_MOI tag was added to gene: CLPB.
Fetal anomalies v1.812 CLPB Arina Puzriakova Publications for gene: CLPB were set to
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 v1.811 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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 v1.807 DMPK Arina Puzriakova Phenotypes for gene: DMPK were changed from DYSTROPHIA MYOTONICA TYPE 1 to Myotonic dystrophy 1, OMIM:160900
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 v1.805 DMPK Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DMPK.
Fetal anomalies v1.805 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels
Fetal anomalies v1.805 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.804 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Fetal anomalies v1.804 CSTB Arina Puzriakova Phenotypes for gene: CSTB were changed from UNVERRICHT-LUNDBORG DISEASE to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to support the gene-disease association but setting rating to Red as currently the performance of the pipeline for this STR is very poor as it is located in a complex locus.
Fetal anomalies v1.803 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
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.
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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
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 v1.801 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Fetal anomalies v1.801 CNBP Arina Puzriakova Tag for-review was removed from gene: CNBP.
Fetal anomalies v1.801 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v1.801 CNBP Arina Puzriakova Added comment: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity.
Fetal anomalies v1.801 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
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 v1.799 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Fetal anomalies v1.799 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
Fetal anomalies v1.798 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668
Fetal anomalies v1.797 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Fetal anomalies v1.797 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v1.796 MMP15 Ivone Leong Tag watchlist tag was added to gene: MMP15.
Fetal anomalies v1.796 MMP15 Ivone Leong Classified gene: MMP15 as Amber List (moderate evidence)
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.
Fetal anomalies v1.796 MMP15 Ivone Leong Gene: mmp15 has been classified as Amber List (Moderate Evidence).
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 v1.794 MMP15 Ivone Leong Publications for gene: MMP15 were set to PMID: 33875846
Fetal anomalies v1.793 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Fetal anomalies v1.793 RFT1 Ivone Leong Tag for-reivew was removed from gene: RFT1.
Fetal anomalies v1.793 RFT1 Ivone Leong Tag for-review tag was added to gene: RFT1.
Fetal anomalies v1.793 EDNRB Ivone Leong Publications for gene: EDNRB were set to
Fetal anomalies v1.792 EDNRB Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.792 EDNRB Ivone Leong Tag Q4_21_MOI tag was added to gene: EDNRB.
Fetal anomalies v1.792 SMARCE1 Arina Puzriakova Classified gene: SMARCE1 as Amber List (moderate evidence)
Fetal anomalies v1.792 SMARCE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
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 v1.789 SLC6A9 Arina Puzriakova Classified gene: SLC6A9 as Amber List (moderate evidence)
Fetal anomalies v1.789 SLC6A9 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.789 SLC6A9 Arina Puzriakova Gene: slc6a9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.788 SLC6A9 Arina Puzriakova Publications for gene: SLC6A9 were set to
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 v1.786 SLC6A9 Arina Puzriakova Tag Q4_21_rating tag was added to gene: SLC6A9.
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: PRRX1.
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Classified gene: PRRX1 as Amber List (moderate evidence)
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.786 PRRX1 Arina Puzriakova Gene: prrx1 has been classified as Amber List (Moderate Evidence).
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 v1.785 PRRX1 Arina Puzriakova Mode of inheritance for gene: PRRX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.784 PRRX1 Arina Puzriakova Phenotypes for gene: PRRX1 were changed from Agnathia-otocephaly complex to Agnathia-otocephaly complex, OMIM:202650
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Classified gene: PRIM1 as Amber List (moderate evidence)
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.783 PRIM1 Arina Puzriakova Gene: prim1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.782 PRIM1 Arina Puzriakova Publications for gene: PRIM1 were set to PMID: 33060134
Fetal anomalies v1.781 PRIM1 Arina Puzriakova Phenotypes for gene: PRIM1 were changed from Primordial dwarfism to Microcephalic primordial dwarfism, MONDO:0017950
Fetal anomalies v1.780 PRIM1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: PRIM1.
Fetal anomalies v1.780 POLR1B Arina Puzriakova Publications for gene: POLR1B were set to PMID: 31649276
Fetal anomalies v1.779 POLR1B Arina Puzriakova Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome 4 to Treacher-Collins syndrome 4 OMIM:618939
Fetal anomalies v1.778 POLR1B Arina Puzriakova Classified gene: POLR1B as Amber List (moderate evidence)
Fetal anomalies v1.778 POLR1B Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.778 POLR1B Arina Puzriakova Gene: polr1b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.777 POLR1B Arina Puzriakova Tag Q4_21_rating tag was added to gene: POLR1B.
Fetal anomalies v1.777 MN1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: MN1.
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 v1.776 LMNB2 Arina Puzriakova Publications for gene: LMNB2 were set to PMID: 33033404
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Classified gene: LMNB2 as Amber List (moderate evidence)
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.775 LMNB2 Arina Puzriakova Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.774 LMNB2 Arina Puzriakova Tag Q4_21_rating tag was added to gene: LMNB2.
Fetal anomalies v1.774 LMNB1 Arina Puzriakova Publications for gene: LMNB1 were set to PMID: 33033404
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 v1.772 LMNB1 Arina Puzriakova Classified gene: LMNB1 as Amber List (moderate evidence)
Fetal anomalies v1.772 LMNB1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.772 LMNB1 Arina Puzriakova Gene: lmnb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.771 LMNB1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: LMNB1.
Fetal anomalies v1.771 GREB1L Arina Puzriakova Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, 617805; renal agenesis to Renal hypodysplasia/aplasia 3, OMIM:617805; Renal agenesis, MONDO:0018470
Fetal anomalies v1.770 FLNC Arina Puzriakova Tag Q4_21_rating tag was added to gene: FLNC.
Fetal anomalies v1.770 FLNC Arina Puzriakova Classified gene: FLNC as Amber List (moderate evidence)
Fetal anomalies v1.770 FLNC Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.770 FLNC Arina Puzriakova Gene: flnc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.769 FLNC Arina Puzriakova Publications for gene: FLNC were set to PMID: 33060286; 29858533
Fetal anomalies v1.768 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from Arthrogryposis to Arthrogryposis, MONDO:0008779
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Tag Q4_21_rating tag was added to gene: EXTL3.
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Classified gene: EXTL3 as Amber List (moderate evidence)
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.767 EXTL3 Arina Puzriakova Gene: extl3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.766 EXTL3 Arina Puzriakova Publications for gene: EXTL3 were set to
Fetal anomalies v1.765 EXTL3 Arina Puzriakova Phenotypes for gene: EXTL3 were changed from Immunoskeletal dysplasia with neurodevelopmental abnormalities to Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Classified gene: ENPP1 as Amber List (moderate evidence)
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.764 ENPP1 Arina Puzriakova Gene: enpp1 has been classified as Amber List (Moderate Evidence).
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 v1.762 ENPP1 Arina Puzriakova Publications for gene: ENPP1 were set to
Fetal anomalies v1.761 ENPP1 Arina Puzriakova Tag Q4_21_rating tag was added to gene: ENPP1.
Fetal anomalies v1.761 EIF5A Arina Puzriakova Classified gene: EIF5A as Amber List (moderate evidence)
Fetal anomalies v1.761 EIF5A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.761 EIF5A Arina Puzriakova Gene: eif5a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.760 EIF5A Arina Puzriakova Publications for gene: EIF5A were set to PMID: 33547280
Fetal anomalies v1.759 EIF5A Arina Puzriakova Phenotypes for gene: EIF5A were changed from Faundes-Banka syndrome to Faundes-Banka syndrome, OMIM:619376
Fetal anomalies v1.758 EIF5A Arina Puzriakova Tag Q4_21_rating tag was added to gene: EIF5A.
Fetal anomalies v1.758 CSF1R Arina Puzriakova Classified gene: CSF1R as Amber List (moderate evidence)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.758 CSF1R Arina Puzriakova Gene: csf1r has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.757 CSF1R Arina Puzriakova Publications for gene: CSF1R were set to PMID: 30982608
Fetal anomalies v1.756 CSF1R Arina Puzriakova Phenotypes for gene: CSF1R were changed from Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) to Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476; BANDDOS
Fetal anomalies v1.755 CSF1R Arina Puzriakova Tag Q4_21_rating tag was added to gene: CSF1R.
Fetal anomalies v1.755 CRADD Arina Puzriakova Tag Q4_21_rating tag was added to gene: CRADD.
Fetal anomalies v1.755 CRADD Arina Puzriakova Classified gene: CRADD as Amber List (moderate evidence)
Fetal anomalies v1.755 CRADD Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.755 CRADD Arina Puzriakova Gene: cradd has been classified as Amber List (Moderate Evidence).
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 v1.753 CRADD Arina Puzriakova Publications for gene: CRADD were set to
Fetal anomalies v1.752 CDK8 Arina Puzriakova Publications for gene: CDK8 were set to PMID: 31742715; 30905399
Fetal anomalies v1.751 CDK8 Arina Puzriakova Phenotypes for gene: CDK8 were changed from Syndromic developmental disorder with hypotonia and behavioural abnormalities to Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748
Fetal anomalies v1.750 CDK8 Arina Puzriakova Classified gene: CDK8 as Amber List (moderate evidence)
Fetal anomalies v1.750 CDK8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Fetal anomalies v1.750 CDK8 Arina Puzriakova Gene: cdk8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.749 CDK8 Arina Puzriakova Tag Q4_21_rating tag was added to gene: CDK8.
Fetal anomalies v1.749 RAB11A Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Fetal anomalies v1.749 PRRX1 Rhiannon Mellis gene: PRRX1 was added
gene: PRRX1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRX1 were set to 21294718; 22211708; 22674740; 23444262
Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex
Review for gene: PRRX1 was set to GREEN
Added comment: At least 4 unrelated cases reported with agnathia-otocephaly complex
Sources: Literature
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
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
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
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
Fetal anomalies v1.749 EIF5A Rhiannon Mellis gene: EIF5A was added
gene: EIF5A was added to Fetal anomalies. Sources: Literature,Expert Review
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF5A were set to PMID: 33547280
Phenotypes for gene: EIF5A were set to Faundes-Banka syndrome
Review for gene: EIF5A 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:
Faundes et al 2021 (PMID: 33547280) report this as a novel disease gene associated with micrognathia, microcephaly, IUGR and Kabuki-like phenotype. Now on OMIM as of August 2021. 7 unrelated patients in this publication.
Sources: Literature, Expert Review
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
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.
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
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)
Fetal anomalies v1.749 EXOC3L2 Rhiannon Mellis reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327448, 28749478, 27894351; Phenotypes: Dandy Walker malformation, Meckel-Gruber like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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
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
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 ACAN Zornitza Stark reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813; 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 v1.748 CYP19A1 Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.747 CYP19A1 Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 v1.745 CRYBB3 Arina Puzriakova Mode of inheritance for gene: CRYBB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.744 CRYBB3 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CRYBB3.
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 v1.743 COL9A3 Arina Puzriakova Phenotypes for gene: COL9A3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 to Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969
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 v1.741 COL6A3 Arina Puzriakova Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.740 COL6A3 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A3.
Fetal anomalies v1.740 COL6A1 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A1.
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 v1.740 COL6A1 Arina Puzriakova Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v1.738 IFT122 Sarah Leigh reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.738 IFT122 Sarah Leigh Publications for gene: IFT122 were set to
Fetal anomalies v1.737 IFT122 Sarah Leigh Phenotypes for gene: IFT122 were changed from CRANIOECTODERMAL DYSPLASIA to Cranioectodermal dysplasia type 1 OMIM:218330; cranioectodermal dysplasia 1 MONDO:0021093
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 v1.736 AAAS Zornitza Stark edited their review of gene: AAAS: Changed rating: RED
Fetal anomalies v1.736 AAAS Zornitza Stark reviewed gene: AAAS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: None
Fetal anomalies v1.736 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600 to CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600; Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541
Fetal anomalies v1.735 CLCN7 Arina Puzriakova Phenotypes for gene: CLCN7 were changed from CLCN7-RELATED OSTEOPETROSIS to CLCN7-RELATED OSTEOPETROSIS; Osteopetrosis, autosomal recessive 4, OMIM:611490; Osteopetrosis, autosomal dominant 2, OMIM:166600
Fetal anomalies v1.734 CLCN7 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'Biallelic' to 'Both mono- and biallelic' at the next review. At least 2 recessive cases and >3 dominant cases reported with osteopetrosis.
Fetal anomalies v1.734 CLCN7 Arina Puzriakova Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.733 CLCN7 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: CLCN7.
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh Tag Q4_21_rating tag was added to gene: EHBP1L1.
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh Entity copied from Fetal hydrops v1.39
Fetal anomalies v1.733 EHBP1L1 Sarah Leigh gene: EHBP1L1 was added
gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1
Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369
Penetrance for gene: EHBP1L1 were set to unknown
Fetal anomalies v1.732 ZC4H2 Ivone Leong Publications for gene: ZC4H2 were set to
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 Tag Q4_21_MOI tag was added to gene: AP1S2.
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.
Fetal anomalies v1.729 AP1S2 Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 Tag Q4_21_expert_review tag was added to gene: SCUBE3.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh Tag Q2_21_rating was removed from gene: SCUBE3.
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.
Fetal anomalies v1.727 SCUBE3 Sarah Leigh Entity copied from Skeletal dysplasia v2.136
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
Fetal anomalies v1.726 BMP2 Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel.
Fetal anomalies v1.726 BMP2 Eleanor Williams Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
Fetal anomalies v1.725 BHLHA9 Eleanor Williams Mode of inheritance for gene: BHLHA9 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.724 BHLHA9 Eleanor Williams Phenotypes for gene: BHLHA9 were changed from ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432; SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v1.723 BHLHA9 Eleanor Williams Phenotypes for gene: BHLHA9 were changed from SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE to ?Camptosynpolydactyly, complex, OMIM:607539; Syndactyly, mesoaxial synostotic, with phalangeal reduction, OMIM:609432SPLIT HAND AND FOOT MALFORMATION; MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE
Fetal anomalies v1.722 BHLHA9 Eleanor Williams Tag Q4_21_MOI tag was added to gene: BHLHA9.
Fetal anomalies v1.722 TMEM260 Sarah Leigh Tag Q4_21_rating tag was added to gene: TMEM260.
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 v1.722 TMEM260 Sarah Leigh Classified gene: TMEM260 as Amber List (moderate evidence)
Fetal anomalies v1.722 TMEM260 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.722 TMEM260 Sarah Leigh Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.721 TMEM260 Sarah Leigh Publications for gene: TMEM260 were set to 28318500
Fetal anomalies v1.720 LONP1 Zornitza Stark reviewed gene: LONP1: Rating: RED; Mode of pathogenicity: None; Publications: 34547244; Phenotypes: Congenital diaphragmatic hernia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
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.
Fetal anomalies v1.720 MED12 Eleanor Williams Tag Skewed X-inactivation tag was added to gene: MED12.
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.
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.
Fetal anomalies v1.720 KMT2A Arina Puzriakova Phenotypes for gene: KMT2A were changed from WIEDEMANN-STEINER SYNDROME to Wiedemann-Steiner syndrome, OMIM:605130
Fetal anomalies v1.719 GREB1L Ivone Leong Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186
Fetal anomalies v1.718 MED12 Eleanor Williams Tag Q3_21_MOI tag was added to gene: MED12.
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
Fetal anomalies v1.718 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v1.717 MED12 Eleanor Williams Tag Q3_21_expert_review tag was added to gene: MED12.
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 v1.717 GNB1 Sarah Leigh Mode of pathogenicity for gene: GNB1 was changed from to None
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 v1.716 GRIN1 Sarah Leigh changed review comment from: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Fetal anomalies v1.716 GRIN1 Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820; neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629
Fetal anomalies v1.715 GRIN1 Sarah Leigh Added comment: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Fetal anomalies v1.715 GRIN1 Sarah Leigh Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.714 GRIN1 Sarah Leigh Tag Q3_21_MOI tag was added to gene: GRIN1.
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 v1.713 CNTN1 Arina Puzriakova gene: CNTN1 was added
gene: CNTN1 was added to Fetal anomalies. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTN1 were set to 19026398; 32779773
Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540
Penetrance for gene: CNTN1 were set to Complete
Fetal anomalies v1.712 FGF8 Zornitza Stark reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 34433009; Phenotypes: Femoral hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v1.711 FOXE3 Eleanor Williams Added comment: Comment on mode of inheritance: Monoallleic cases related to Aortic aneurysm, familial thoracic 11, susceptibility to and to some cases with an eye phenotype. Biallelic cases associated with an eye phenotype.
Fetal anomalies v1.711 FOXE3 Eleanor Williams Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v1.709 EML1 Arina Puzriakova Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348
Fetal anomalies v1.708 GBE1 Arina Puzriakova Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence to Glycogen storage disease IV, OMIM:232500; Fetal akinesia deformation sequence
Fetal anomalies v1.707 GALC Arina Puzriakova Phenotypes for gene: GALC were changed from KRABBE DISEASE to Krabbe disease, OMIM:245200
Fetal anomalies v1.706 WDR91 Arina Puzriakova Publications for gene: WDR91 were set to 32732226
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 v1.705 PRKD1 Arina Puzriakova Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.704 PRKD1 Arina Puzriakova Publications for gene: PRKD1 were set to
Fetal anomalies v1.703 PRKD1 Arina Puzriakova Tag watchlist_moi tag was added to gene: PRKD1.
Fetal anomalies v1.703 COL4A2 Arina Puzriakova Publications for gene: COL4A2 were set to
Fetal anomalies v1.702 COL4A2 Arina Puzriakova reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.702 COL4A1 Arina Puzriakova reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.702 COL4A1 Arina Puzriakova Publications for gene: COL4A1 were set to
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 Added comment: Comment on phenotypes: Also associated with Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
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 v1.698 WNT1 Ivone Leong Phenotypes for gene: WNT1 were changed from OSTEOGENESIS IMPERFECTA to Osteogenesis imperfecta, type XV, OMIM:615220
Fetal anomalies v1.697 SMAD3 Eleanor Williams commented on gene: SMAD3
Fetal anomalies v1.697 BMPR1B Arina Puzriakova Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600 to Acromesomelic dysplasia, Demirhan type, OMIM:609441
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 v1.696 BMPR1B Arina Puzriakova Mode of inheritance for gene: BMPR1B was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.695 BMPR1B Arina Puzriakova Phenotypes for gene: BMPR1B were changed from BRACHYDACTYLY TYPE A2 to Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600
Fetal anomalies v1.694 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009 to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Fetal anomalies v1.693 ASPH Ivone Leong Added comment: Comment on phenotypes: Previously:
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
Fetal anomalies v1.693 ASPH Ivone Leong Phenotypes for gene: ASPH were changed from FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS to Traboulsi syndrome, OMIM:601552
Fetal anomalies v1.692 MYOD1 Ivone Leong Tag Q3_21_rating was removed from gene: MYOD1.
Tag watchlist tag was added to gene: MYOD1.
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 v1.692 MYOD1 Ivone Leong Entity copied from Congenital myopathy v2.56
Fetal anomalies v1.692 MYOD1 Ivone Leong gene: MYOD1 was added
gene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: MYOD1.
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Fetal anomalies v1.691 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from Split-hand/foot malformation 6, OMIM:225300 to Split-hand/foot malformation 6, OMIM:225300
Fetal anomalies v1.690 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from SPLIT-HAND/FOOT MALFORMATION TYPE 6 to Split-hand/foot malformation 6, OMIM:225300
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Tag Q3_21_rating tag was added to STR: DMPK_CTG.
Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
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.
Fetal anomalies v1.689 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31
Fetal anomalies v1.688 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900
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.
Fetal anomalies v1.687 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
Fetal anomalies v1.687 DMPK Arina Puzriakova Added comment: 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.
Fetal anomalies v1.687 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
Fetal anomalies v1.686 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
Tag Q3_21_rating tag was added to gene: DMPK.
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 v1.684 ATAD3A Arina Puzriakova Publications for gene: ATAD3A were set to 27640307; 28327206
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 Tag watchlist was removed from gene: ATAD3A.
Tag Q3_21_MOI tag was added to gene: ATAD3A.
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.
Fetal anomalies v1.682 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.681 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Fetal anomalies v1.680 ACOX1 Ivone Leong Phenotypes for gene: ACOX1 were changed from ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, 264470 to ADRENOLEUKODYSTROPHY PSEUDONEONATAL; Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Fetal anomalies v1.679 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
Fetal anomalies v1.679 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 v1.677 SPTBN5 Arina Puzriakova Phenotypes for gene: SPTBN5 were changed from Multicystic kidney; Oligohydramnios to Multicystic kidney; Oligohydramnios; Sacral agenesis
Fetal anomalies v1.676 SPTBN5 Arina Puzriakova Publications for gene: SPTBN5 were set to 32732226
Fetal anomalies v1.675 SPTBN5 Arina Puzriakova Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
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 SPTBN5 Zornitza Stark reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 28007035; Phenotypes: Sacral agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.674 WDR91 Zornitza Stark reviewed gene: WDR91: Rating: AMBER; Mode of pathogenicity: None; Publications: 34028500, 28860274; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.674 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete
Fetal anomalies v1.674 FOXG1 Sarah Leigh Publications for gene: FOXG1 were set to
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
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
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
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
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
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
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
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.
Fetal anomalies v1.665 SMARCC1 Arina Puzriakova Entity copied from Hydrocephalus v2.104
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
Fetal anomalies v1.664 DPH1 Arina Puzriakova Classified gene: DPH1 as Amber List (moderate evidence)
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 v1.664 DPH1 Arina Puzriakova Gene: dph1 has been classified as Amber List (Moderate Evidence).
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
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Classified gene: RFWD3 as Red List (low evidence)
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). To date, only a single patient has been reported in PMID: 28691929 - rating Red awaiting further cases.
Fetal anomalies v1.662 RFWD3 Arina Puzriakova Gene: rfwd3 has been classified as Red List (Low Evidence).
Fetal anomalies v1.661 RFWD3 Arina Puzriakova Publications for gene: RFWD3 were set to PMID: 2869192
Fetal anomalies v1.660 RFWD3 Arina Puzriakova Phenotypes for gene: RFWD3 were changed from Fanconi anaemia to ?Fanconi anemia, complementation group W, OMIM:617784
Fetal anomalies v1.659 FKBP8 Arina Puzriakova Mode of inheritance for gene: FKBP8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.658 FKBP8 Arina Puzriakova Classified gene: FKBP8 as Amber List (moderate evidence)
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.
Fetal anomalies v1.658 FKBP8 Arina Puzriakova Gene: fkbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.657 FKBP8 Arina Puzriakova Phenotypes for gene: FKBP8 were changed from spina bifida HP:0002414 to Spina bifida, HP:0002414; Vertebral segmentation defects
Fetal anomalies v1.656 FKBP8 Arina Puzriakova Publications for gene: FKBP8 were set to 32969478
Fetal anomalies v1.655 PLD1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: PLD1.
Fetal anomalies v1.655 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542
Fetal anomalies v1.654 PLD1 Arina Puzriakova Classified gene: PLD1 as Amber List (moderate evidence)
Fetal anomalies v1.654 PLD1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Suzanne Drury (Congenica). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a fetally-relevant gene-disease association. This gene should be rated Green at the next review.
Fetal anomalies v1.654 PLD1 Arina Puzriakova Gene: pld1 has been classified as Amber List (Moderate Evidence).
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 v1.651 TSEN54 Arina Puzriakova Publications for gene: TSEN54 were set to
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 v1.649 CLTC Arina Puzriakova Publications for gene: CLTC were set to
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
Fetal anomalies v1.648 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from DENT DISEASE TYPE 2; LOWE OCULOCEREBRORENAL SYNDROME to Dent disease 2, OMIM:300555; Lowe syndrome, OMIM:309000
Fetal anomalies v1.647 OCRL Eleanor Williams Publications for gene: OCRL were set to
Fetal anomalies v1.646 OCRL Eleanor Williams reviewed gene: OCRL: Rating: ; Mode of pathogenicity: None; Publications: 33517444; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.646 FOXP4 Ivone Leong Tag Q2_21_rating was removed from gene: FOXP4.
Fetal anomalies v1.646 FOXP4 Ivone Leong Classified gene: FOXP4 as Amber List (moderate evidence)
Fetal anomalies v1.646 FOXP4 Ivone Leong Gene: foxp4 has been classified as Amber List (Moderate Evidence).
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
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 reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v1.642 FBN2 Sarah Leigh Publications for gene: FBN2 were set to
Fetal anomalies v1.641 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
Fetal anomalies v1.641 FKBP8 Rhiannon Mellis reviewed gene: FKBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29261186; Phenotypes: Vertebral segmentation defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.641 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
Fetal anomalies v1.641 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
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
Fetal anomalies v1.637 CLTC Suzanne Drury reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PMID:33743358; Phenotypes: ; Mode of inheritance: None
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 v1.636 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.635 KIDINS220 Zornitza Stark reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 32909676; Phenotypes: limb contractures, ventriculomegaly, stillbirth; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.635 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Tag Q2_21_MOI tag was added to gene: KIDINS220.
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 v1.635 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Reverting to Monoallelic MOI until consult with Genomics England clinical team.
Fetal anomalies v1.634 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 v1.632 KIDINS220 Eleanor Williams Added comment: Comment on mode of inheritance: Changing MOI from monallelic to BOTH as 2 biallelic cases have now been reported with a more severe phenotype
Fetal anomalies v1.632 KIDINS220 Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.631 KIDINS220 Eleanor Williams Publications for gene: KIDINS220 were set to
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.630 KIDINS220 Eleanor Williams edited their review of gene: KIDINS220: Changed publications: 33205811, 28934391, 22048169
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.
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.
Fetal anomalies v1.630 KIDINS220 Eleanor Williams reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: None; Publications: 33205811, 28934391, 28934391; Phenotypes: cerebral ventriculomegaly, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.630 CDAN1 Arina Puzriakova Phenotypes for gene: CDAN1 were changed from Anemia, congenital dyserythropoietic, type I 224120 to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135
Fetal anomalies v1.629 CDAN1 Arina Puzriakova Publications for gene: CDAN1 were set to
Fetal anomalies v1.628 CDAN1 Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30786798, 29668551, 29599085; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, OMIM:224120, Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.628 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
Fetal anomalies v1.628 TTC25 Catherine Snow commented on gene: TTC25
Fetal anomalies v1.628 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
Fetal anomalies v1.628 CCDC151 Catherine Snow commented on gene: CCDC151
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 v1.628 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Fetal anomalies v1.628 CCDC114 Catherine Snow commented on gene: CCDC114
Fetal anomalies v1.628 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
Fetal anomalies v1.628 C12orf65 Catherine Snow commented on gene: C12orf65
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow Tag new-gene-name tag was added to gene: TCTEX1D2.
Fetal anomalies v1.628 TCTEX1D2 Catherine Snow commented on gene: TCTEX1D2
Fetal anomalies v1.628 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Fetal anomalies v1.628 LRRC6 Catherine Snow commented on gene: LRRC6
Fetal anomalies v1.628 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.628 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
Fetal anomalies v1.628 WBP11 Eleanor Williams Tag Q2_21_rating tag was added to gene: WBP11.
Fetal anomalies v1.628 WBP11 Eleanor Williams Classified gene: WBP11 as Amber List (moderate evidence)
Fetal anomalies v1.628 WBP11 Eleanor Williams Added comment: Comment on list classification: Promoting to amber but with a recommendation for green rating at the next GMS review.
Fetal anomalies v1.628 WBP11 Eleanor Williams Gene: wbp11 has been classified as Amber List (Moderate Evidence).
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
Fetal anomalies v1.626 OTUD5 Arina Puzriakova Classified gene: OTUD5 as Amber List (moderate evidence)
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 v1.626 OTUD5 Arina Puzriakova Gene: otud5 has been classified as Amber List (Moderate Evidence).
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
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 v1.623 SYNE1 Arina Puzriakova Publications for gene: SYNE1 were set to
Fetal anomalies v1.622 SYNE1 Arina Puzriakova Classified gene: SYNE1 as Amber List (moderate evidence)
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 v1.622 SYNE1 Arina Puzriakova Gene: syne1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.621 SYNE1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SYNE1.
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 v1.621 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416
Fetal anomalies v1.620 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
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.
Fetal anomalies v1.620 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.619 GDF6 Arina Puzriakova Phenotypes for gene: GDF6 were changed from MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1 to MICROPHTHALMIA ISOLATED TYPE 4; KLIPPEL-FEIL SYNDROME TYPE 1; Syndromic CAKUT
Fetal anomalies v1.618 GDF6 Arina Puzriakova Publications for gene: GDF6 were set to
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SLC20A1.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Classified gene: SLC20A1 as Amber List (moderate evidence)
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.
Fetal anomalies v1.617 SLC20A1 Arina Puzriakova Gene: slc20a1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Amber List (moderate evidence)
Fetal anomalies v1.616 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow changed review comment from: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen; to: Addition of region inline with ClinGen regions classifications. Reviewed by GEL clinical team for panel phenotype, noted that this may escape detection in fetal life, however as the fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Classified Region: ISCA-46302-Gain as Red List (low evidence)
Fetal anomalies v1.615 ISCA-46302-Gain Catherine Snow Region: isca-46302-gain has been classified as Red List (Low Evidence).
Fetal anomalies v1.614 ISCA-46302-Gain Catherine Snow Region: ISCA-46302-Gain was added
Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen
for-review tags were added to Region: ISCA-46302-Gain.
Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758
Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis
Review for Region: ISCA-46302-Gain was set to AMBER
Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too.
Sources: ClinGen
Fetal anomalies v1.613 SCLT1 Ivone Leong Tag for-review tag was added to gene: SCLT1.
Fetal anomalies v1.613 CASR Ivone Leong Tag for-review tag was added to gene: CASR.
Fetal anomalies v1.613 PRUNE1 Eleanor Williams Publications for gene: PRUNE1 were set to
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.
Fetal anomalies v1.612 SUFU Arina Puzriakova commented on gene: SUFU
Fetal anomalies v1.612 SUFU Arina Puzriakova Tag for-review tag was added to gene: SUFU.
Fetal anomalies v1.612 SUFU Arina Puzriakova Phenotypes for gene: SUFU were changed from Joubert Syndrome with Cranio-facial and Skeletal Defects; Basal cell nevus syndrome 109400 to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v1.611 SUFU Arina Puzriakova Publications for gene: SUFU were set to 28965847
Fetal anomalies v1.610 SUFU Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 v1.608 SMPD4 Arina Puzriakova Publications for gene: SMPD4 were set to PMID: 31495489
Fetal anomalies v1.607 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; H syndrome, MONDO:0011273
Fetal anomalies v1.606 SLC18A3 Arina Puzriakova Phenotypes for gene: SLC18A3 were changed from Myasthenic syndrome, congenital, 21, presynaptic to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983
Fetal anomalies v1.605 SLC18A3 Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209
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 v1.603 SMPD4 Arina Puzriakova Classified gene: SMPD4 as Amber List (moderate evidence)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.603 SMPD4 Arina Puzriakova Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.602 SMPD4 Arina Puzriakova Tag for-review tag was added to gene: SMPD4.
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Classified gene: SLC29A3 as Amber List (moderate evidence)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.602 SLC29A3 Arina Puzriakova Gene: slc29a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.601 SLC29A3 Arina Puzriakova Tag for-review tag was added to gene: SLC29A3.
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Classified gene: SLC18A3 as Amber List (moderate evidence)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.601 SLC18A3 Arina Puzriakova Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.600 SLC18A3 Arina Puzriakova Tag for-review tag was added to gene: SLC18A3.
Fetal anomalies v1.600 SIX6 Arina Puzriakova Classified gene: SIX6 as Amber List (moderate evidence)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.600 SIX6 Arina Puzriakova Gene: six6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.599 SIX6 Arina Puzriakova Tag for-review tag was added to gene: SIX6.
Fetal anomalies v1.599 SLC5A7 Arina Puzriakova Phenotypes for gene: SLC5A7 were changed from Congenital Myasthenic Syndrome with Episodic Apnea to Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143; Congenital myasthenic syndrome 20, MONDO:0014939
Fetal anomalies v1.598 TSFM Catherine Snow Publications for gene: TSFM were set to
Fetal anomalies v1.597 SLC5A7 Arina Puzriakova Publications for gene: SLC5A7 were set to
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Classified gene: SLC5A7 as Amber List (moderate evidence)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.596 SLC5A7 Arina Puzriakova Gene: slc5a7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.595 SLC5A7 Arina Puzriakova Tag for-review tag was added to gene: SLC5A7.
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 v1.594 TSFM Catherine Snow Tag for-review tag was added to gene: TSFM.
Fetal anomalies v1.594 SLC25A19 Arina Puzriakova Phenotypes for gene: SLC25A19 were changed from AMISH LETHAL MICROCEPHALY to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790
Fetal anomalies v1.593 TSFM Catherine Snow Classified gene: TSFM as Amber List (moderate evidence)
Fetal anomalies v1.593 TSFM Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.593 TSFM Catherine Snow Gene: tsfm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.592 SMS Arina Puzriakova Classified gene: SMS as Amber List (moderate evidence)
Fetal anomalies v1.592 SMS Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.592 SMS Arina Puzriakova Gene: sms has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.591 TSEN34 Catherine Snow Tag for-review tag was added to gene: TSEN34.
Fetal anomalies v1.591 SMS Arina Puzriakova Tag for-review tag was added to gene: SMS.
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Classified gene: SLC25A19 as Amber List (moderate evidence)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.591 SLC25A19 Arina Puzriakova Gene: slc25a19 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.590 TSEN34 Catherine Snow Classified gene: TSEN34 as Amber List (moderate evidence)
Fetal anomalies v1.590 TSEN34 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.590 TSEN34 Catherine Snow Gene: tsen34 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.589 SLC25A19 Arina Puzriakova Tag for-review tag was added to gene: SLC25A19.
Fetal anomalies v1.589 SHANK3 Arina Puzriakova Phenotypes for gene: SHANK3 were changed from PHELAN-MCDERMID SYNDROME to Phelan-McDermid syndrome, OMIM:606232; Phelan-McDermid syndrome, MONDO:0011652
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Classified gene: SHANK3 as Amber List (moderate evidence)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.588 SHANK3 Arina Puzriakova Gene: shank3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.587 TSEN2 Catherine Snow Tag for-review tag was added to gene: TSEN2.
Fetal anomalies v1.587 SHANK3 Arina Puzriakova Tag for-review tag was added to gene: SHANK3.
Fetal anomalies v1.587 TSEN2 Catherine Snow Classified gene: TSEN2 as Amber List (moderate evidence)
Fetal anomalies v1.587 TSEN2 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.587 TSEN2 Catherine Snow Gene: tsen2 has been classified as Amber List (Moderate Evidence).
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 v1.585 TRMT10A Catherine Snow Tag for-review tag was added to gene: TRMT10A.
Fetal anomalies v1.585 TRMT10A Catherine Snow Classified gene: TRMT10A as Amber List (moderate evidence)
Fetal anomalies v1.585 TRMT10A Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.585 TRMT10A Catherine Snow Gene: trmt10a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.584 SERPINH1 Arina Puzriakova Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X to Osteogenesis imperfecta, type X, OMIM:613848; Osteogenesis imperfecta type 10, MONDO:0013459
Fetal anomalies v1.583 TRAP1 Catherine Snow Tag for-review tag was added to gene: TRAP1.
Fetal anomalies v1.583 SERPINF1 Arina Puzriakova Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515
Fetal anomalies v1.582 TRAP1 Catherine Snow Publications for gene: TRAP1 were set to
Fetal anomalies v1.581 SGCG Arina Puzriakova Classified gene: SGCG as Amber List (moderate evidence)
Fetal anomalies v1.581 SGCG Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.581 SGCG Arina Puzriakova Gene: sgcg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.580 SGCG Arina Puzriakova Tag for-review tag was added to gene: SGCG.
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Classified gene: SERPINH1 as Amber List (moderate evidence)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.580 SERPINH1 Arina Puzriakova Gene: serpinh1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.579 SERPINH1 Arina Puzriakova Tag for-review tag was added to gene: SERPINH1.
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Classified gene: SERPINF1 as Amber List (moderate evidence)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.579 SERPINF1 Arina Puzriakova Gene: serpinf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.578 SERPINF1 Arina Puzriakova Tag for-review tag was added to gene: SERPINF1.
Fetal anomalies v1.578 TRAP1 Catherine Snow Classified gene: TRAP1 as Amber List (moderate evidence)
Fetal anomalies v1.578 TRAP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.578 TRAP1 Catherine Snow Gene: trap1 has been classified as Amber List (Moderate Evidence).
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 v1.576 TOE1 Arina Puzriakova Classified gene: TOE1 as Amber List (moderate evidence)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.576 TOE1 Arina Puzriakova Gene: toe1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.575 TOE1 Arina Puzriakova Tag for-review tag was added to gene: TOE1.
Fetal anomalies v1.575 TRAIP Catherine Snow Publications for gene: TRAIP were set to
Fetal anomalies v1.574 TRAIP Catherine Snow Classified gene: TRAIP as Amber List (moderate evidence)
Fetal anomalies v1.574 TRAIP Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.574 TRAIP Catherine Snow Gene: traip has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.573 TRAIP Catherine Snow Tag for-review tag was added to gene: TRAIP.
Fetal anomalies v1.573 TRAIP Catherine Snow Phenotypes for gene: TRAIP were changed from PRIMORDIAL DWARFISM to Seckel syndrome 9
Fetal anomalies v1.572 TELO2 Arina Puzriakova Phenotypes for gene: TELO2 were changed from TELO2 Syndromic Intellectual Disability Disorder to You-Hoover-Fong syndrome, OMIM:616954; TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848
Fetal anomalies v1.571 TELO2 Arina Puzriakova Classified gene: TELO2 as Amber List (moderate evidence)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.571 TELO2 Arina Puzriakova Gene: telo2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.570 TELO2 Arina Puzriakova Tag for-review tag was added to gene: TELO2.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Tag for-review tag was added to gene: TRAF3IP1.
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Classified gene: TRAF3IP1 as Amber List (moderate evidence)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.570 TRAF3IP1 Catherine Snow Gene: traf3ip1 has been classified as Amber List (Moderate Evidence).
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 v1.568 STIL Arina Puzriakova Publications for gene: STIL were set to
Fetal anomalies v1.567 STIL Arina Puzriakova Classified gene: STIL as Amber List (moderate evidence)
Fetal anomalies v1.567 STIL Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.567 STIL Arina Puzriakova Gene: stil has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.566 STIL Arina Puzriakova Tag for-review tag was added to gene: STIL.
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 v1.565 SPECC1L Arina Puzriakova Phenotypes for gene: SPECC1L were changed from FACIAL CLEFTING, OBLIQUE, 1 to ?Facial clefting, oblique, 1, OMIM:600251; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779
Fetal anomalies v1.564 ST14 Arina Puzriakova Phenotypes for gene: ST14 were changed from ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218
Fetal anomalies v1.563 ST14 Arina Puzriakova Classified gene: ST14 as Amber List (moderate evidence)
Fetal anomalies v1.563 ST14 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.563 ST14 Arina Puzriakova Gene: st14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.562 ST14 Arina Puzriakova Tag for-review tag was added to gene: ST14.
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Classified gene: SPECC1L as Amber List (moderate evidence)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.562 SPECC1L Arina Puzriakova Gene: specc1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.561 SPECC1L Arina Puzriakova Tag for-review tag was added to gene: SPECC1L.
Fetal anomalies v1.561 SPARC Arina Puzriakova Classified gene: SPARC as Amber List (moderate evidence)
Fetal anomalies v1.561 SPARC Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
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 v1.560 TUBB3 Catherine Snow Publications for gene: TUBB3 were set to
Fetal anomalies v1.559 TUBB3 Catherine Snow Tag for-review tag was added to gene: TUBB3.
Fetal anomalies v1.559 TUBB3 Catherine Snow Classified gene: TUBB3 as Amber List (moderate evidence)
Fetal anomalies v1.559 TUBB3 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.559 TUBB3 Catherine Snow Gene: tubb3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.558 TUBG1 Catherine Snow Tag for-review tag was added to gene: TUBG1.
Fetal anomalies v1.558 TBC1D32 Arina Puzriakova Classified gene: TBC1D32 as Amber List (moderate evidence)
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 v1.558 TBC1D32 Arina Puzriakova Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.557 TUBG1 Catherine Snow Classified gene: TUBG1 as Amber List (moderate evidence)
Fetal anomalies v1.557 TUBG1 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.557 TUBG1 Catherine Snow Gene: tubg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.556 TUBG1 Catherine Snow Publications for gene: TUBG1 were set to
Fetal anomalies v1.555 TBC1D32 Arina Puzriakova Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556
Fetal anomalies v1.554 TUBGCP4 Catherine Snow Publications for gene: TUBGCP4 were set to
Fetal anomalies v1.553 TBC1D32 Arina Puzriakova Tag for-review tag was added to gene: TBC1D32.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Tag for-review tag was added to gene: TUBGCP4.
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Classified gene: TUBGCP4 as Amber List (moderate evidence)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.553 TUBGCP4 Catherine Snow Gene: tubgcp4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.552 TXNDC15 Catherine Snow Tag for-review tag was added to gene: TXNDC15.
Fetal anomalies v1.552 TXNDC15 Catherine Snow Publications for gene: TXNDC15 were set to
Fetal anomalies v1.551 TXNDC15 Catherine Snow Classified gene: TXNDC15 as Amber List (moderate evidence)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.551 TXNDC15 Catherine Snow Gene: txndc15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.550 UBE2T Catherine Snow Classified gene: UBE2T as Amber List (moderate evidence)
Fetal anomalies v1.550 UBE2T Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.550 UBE2T Catherine Snow Gene: ube2t has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.549 UBE2T Catherine Snow Tag for-review tag was added to gene: UBE2T.
Fetal anomalies v1.549 UBE2T Catherine Snow Publications for gene: UBE2T were set to
Fetal anomalies v1.548 STRADA Arina Puzriakova Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Fetal anomalies v1.547 STRADA Arina Puzriakova Classified gene: STRADA as Amber List (moderate evidence)
Fetal anomalies v1.547 STRADA Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.547 STRADA Arina Puzriakova Gene: strada has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.546 STRADA Arina Puzriakova Tag for-review tag was added to gene: STRADA.
Fetal anomalies v1.546 STAC3 Arina Puzriakova Publications for gene: STAC3 were set to PMID: 30168660
Fetal anomalies v1.545 STAC3 Arina Puzriakova Phenotypes for gene: STAC3 were changed from Myopathy, congenital, Baily-Bloch to Myopathy, congenital, Baily-Bloch, OMIM:255995; Bailey-Bloch congenital myopathy, MONDO:0009722
Fetal anomalies v1.544 STAC3 Arina Puzriakova Classified gene: STAC3 as Amber List (moderate evidence)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.544 STAC3 Arina Puzriakova Gene: stac3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.543 STAC3 Arina Puzriakova Tag for-review tag was added to gene: STAC3.
Fetal anomalies v1.543 SEC24D Ivone Leong commented on gene: SEC24D
Fetal anomalies v1.543 SEC24D Ivone Leong Tag for-review tag was added to gene: SEC24D.
Fetal anomalies v1.543 SP7 Arina Puzriakova Phenotypes for gene: SP7 were changed from Osteogenesis imperfecta, type XII to Osteogenesis imperfecta, type XII, OMIM:613849; Osteogenesis imperfecta type 12, MONDO:0013460
Fetal anomalies v1.542 SOX6 Arina Puzriakova Phenotypes for gene: SOX6 were changed from Tolchin-Le Caignec syndrome to Tolchin-Le Caignec syndrome, OMIM:618971; Tolchin-Le Caignec syndrome, MONDO:0033544
Fetal anomalies v1.541 SOX18 Arina Puzriakova Phenotypes for gene: SOX18 were changed from Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823; Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914
Fetal anomalies v1.540 SNX10 Arina Puzriakova Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040
Fetal anomalies v1.539 SP7 Arina Puzriakova Classified gene: SP7 as Amber List (moderate evidence)
Fetal anomalies v1.539 SP7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.539 SP7 Arina Puzriakova Gene: sp7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.538 SP7 Arina Puzriakova Tag for-review tag was added to gene: SP7.
Fetal anomalies v1.538 SOX6 Arina Puzriakova Classified gene: SOX6 as Amber List (moderate evidence)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.538 SOX6 Arina Puzriakova Gene: sox6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.537 SOX6 Arina Puzriakova Tag for-review tag was added to gene: SOX6.
Fetal anomalies v1.537 SOX18 Arina Puzriakova Classified gene: SOX18 as Amber List (moderate evidence)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.537 SOX18 Arina Puzriakova Gene: sox18 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.536 SOX18 Arina Puzriakova Tag for-review tag was added to gene: SOX18.
Fetal anomalies v1.536 SNX10 Arina Puzriakova Classified gene: SNX10 as Amber List (moderate evidence)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.536 SNX10 Arina Puzriakova Gene: snx10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.535 SNX10 Arina Puzriakova Tag for-review tag was added to gene: SNX10.
Fetal anomalies v1.535 RPS24 Arina Puzriakova Phenotypes for gene: RPS24 were changed from Diamond-blackfan anemia 3 610629 to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529
Fetal anomalies v1.534 RPL35A Arina Puzriakova Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5 612528 to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925
Fetal anomalies v1.533 RPS24 Arina Puzriakova Classified gene: RPS24 as Amber List (moderate evidence)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.533 RPS24 Arina Puzriakova Gene: rps24 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.532 RPS24 Arina Puzriakova Tag for-review tag was added to gene: RPS24.
Fetal anomalies v1.532 RPL35A Arina Puzriakova Classified gene: RPL35A as Amber List (moderate evidence)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.532 RPL35A Arina Puzriakova Gene: rpl35a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.531 RPL35A Arina Puzriakova Tag for-review tag was added to gene: RPL35A.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Tag for-review tag was added to gene: SDR9C7.
Fetal anomalies v1.531 SDR9C7 Ivone Leong Classified gene: SDR9C7 as Amber List (moderate evidence)
Fetal anomalies v1.531 SDR9C7 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.531 SDR9C7 Ivone Leong Gene: sdr9c7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.530 SDR9C7 Ivone Leong Phenotypes for gene: SDR9C7 were changed from Ichthyosis, congenital, autosomal recessive 13 to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Fetal anomalies v1.529 SCLT1 Ivone Leong Classified gene: SCLT1 as Amber List (moderate evidence)
Fetal anomalies v1.529 SCLT1 Ivone Leong Added comment: Comment on list classification: New gene added by Rhiannon Mellis (Great Ormond Street Hospital).

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.529 SCLT1 Ivone Leong Gene: sclt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.528 SCLT1 Ivone Leong Publications for gene: SCLT1 were set to
Fetal anomalies v1.527 RFT1 Arina Puzriakova Phenotypes for gene: RFT1 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783
Fetal anomalies v1.526 RFT1 Arina Puzriakova Classified gene: RFT1 as Amber List (moderate evidence)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.526 RFT1 Arina Puzriakova Gene: rft1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.525 RSPH9 Ivone Leong Tag for-review tag was added to gene: RSPH9.
Fetal anomalies v1.525 RFT1 Arina Puzriakova Tag for-reivew tag was added to gene: RFT1.
Fetal anomalies v1.525 RSPH9 Ivone Leong Classified gene: RSPH9 as Amber List (moderate evidence)
Fetal anomalies v1.525 RSPH9 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.525 RSPH9 Ivone Leong Gene: rsph9 has been classified as Amber List (Moderate Evidence).
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 v1.523 RSPH4A Ivone Leong Classified gene: RSPH4A as Amber List (moderate evidence)
Fetal anomalies v1.523 RSPH4A Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber.

Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag).
Fetal anomalies v1.523 RSPH4A Ivone Leong Gene: rsph4a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.522 RBM10 Arina Puzriakova Classified gene: RBM10 as Amber List (moderate evidence)
Fetal anomalies v1.522 RBM10 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.522 RBM10 Arina Puzriakova Gene: rbm10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.521 RSPH4A Ivone Leong Tag for-review tag was added to gene: RSPH4A.
Fetal anomalies v1.521 RBM10 Arina Puzriakova Tag for-review tag was added to gene: RBM10.
Fetal anomalies v1.521 PTPN14 Arina Puzriakova Phenotypes for gene: PTPN14 were changed from CHOANAL ATRESIA AND LYMPHEDEMA to Choanal atresia and lymphedema, OMIM:613611; Lymphedema-posterior choanal atresia syndrome, MONDO:0013324
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Classified gene: PTPN14 as Amber List (moderate evidence)
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.520 PTPN14 Arina Puzriakova Gene: ptpn14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.519 PTPN14 Arina Puzriakova Tag for-review tag was added to gene: PTPN14.
Fetal anomalies v1.519 PSAT1 Arina Puzriakova Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038; NEU-LAXOVA SYNDROME; PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY to Neu-Laxova syndrome 2, OMIM:616038; Neu-Laxova syndrome 2, MONDO:0014466
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 v1.517 PRUNE1 Arina Puzriakova Classified gene: PRUNE1 as Amber List (moderate evidence)
Fetal anomalies v1.517 PRUNE1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.517 PRUNE1 Arina Puzriakova Gene: prune1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.516 PRUNE1 Arina Puzriakova Tag for-review tag was added to gene: PRUNE1.
Fetal anomalies v1.516 RPS7 Arina Puzriakova Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anemia 8 to Diamond-Blackfan anemia 8, OMIM:612563; Diamond-Blackfan anemia 8, MONDO:0012939
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 v1.514 ROBO3 Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.514 ROBO3 Arina Puzriakova Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313; Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790
Fetal anomalies v1.513 RBBP8 Arina Puzriakova Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2 to Seckel syndrome 2, OMIM:606744; Seckel syndrome 2, MONDO:0011715
Fetal anomalies v1.512 RAB33B Arina Puzriakova Phenotypes for gene: RAB33B were changed from Smith-McCort dysplasia 2 to Smith-McCort dysplasia 2, OMIM:615222; Smith-McCort dysplasia 2, MONDO:0014087
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 v1.509 POP1 Arina Puzriakova Phenotypes for gene: POP1 were changed from Anauxetic dysplasia 2 to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Fetal anomalies v1.508 POLG2 Arina Puzriakova Phenotypes for gene: POLG2 were changed from Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 to Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415
Fetal anomalies v1.507 RRAS2 Arina Puzriakova Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12 to Noonan syndrome 12, OMIM:618624; Noonan syndrome 12, MONDO:0032839
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Classified gene: RRAS2 as Amber List (moderate evidence)
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.506 RRAS2 Arina Puzriakova Gene: rras2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.505 RRAS2 Arina Puzriakova Tag for-review tag was added to gene: RRAS2.
Fetal anomalies v1.505 RPS7 Arina Puzriakova Classified gene: RPS7 as Amber List (moderate evidence)
Fetal anomalies v1.505 RPS7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.505 RPS7 Arina Puzriakova Gene: rps7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.504 RPS7 Arina Puzriakova Tag for-review tag was added to gene: RPS7.
Fetal anomalies v1.504 RPL10 Arina Puzriakova Classified gene: RPL10 as Amber List (moderate evidence)
Fetal anomalies v1.504 RPL10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.504 RPL10 Arina Puzriakova Gene: rpl10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.503 RPL10 Arina Puzriakova Tag for-review tag was added to gene: RPL10.
Fetal anomalies v1.503 ROBO3 Arina Puzriakova Mode of inheritance for gene: ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Classified gene: ROBO3 as Amber List (moderate evidence)
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.502 ROBO3 Arina Puzriakova Gene: robo3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.501 ROBO3 Arina Puzriakova Tag for-review tag was added to gene: ROBO3.
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Classified gene: RBBP8 as Amber List (moderate evidence)
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.501 RBBP8 Arina Puzriakova Gene: rbbp8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.500 RBBP8 Arina Puzriakova Tag for-review tag was added to gene: RBBP8.
Fetal anomalies v1.500 RAB33B Arina Puzriakova Classified gene: RAB33B as Amber List (moderate evidence)
Fetal anomalies v1.500 RAB33B Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.500 RAB33B Arina Puzriakova Gene: rab33b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.499 RAB33B Arina Puzriakova Tag for-review tag was added to gene: RAB33B.
Fetal anomalies v1.499 PYGM Arina Puzriakova Classified gene: PYGM as Amber List (moderate evidence)
Fetal anomalies v1.499 PYGM Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.499 PYGM Arina Puzriakova Gene: pygm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.498 PYGM Arina Puzriakova Tag for-review tag was added to gene: PYGM.
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Classified gene: PRKAG2 as Amber List (moderate evidence)
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.498 PRKAG2 Arina Puzriakova Gene: prkag2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.497 PRKAG2 Arina Puzriakova Tag for-review tag was added to gene: PRKAG2.
Fetal anomalies v1.497 POP1 Arina Puzriakova Classified gene: POP1 as Amber List (moderate evidence)
Fetal anomalies v1.497 POP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.497 POP1 Arina Puzriakova Gene: pop1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.496 POP1 Arina Puzriakova Tag for-review tag was added to gene: POP1.
Fetal anomalies v1.496 POLG2 Arina Puzriakova Classified gene: POLG2 as Amber List (moderate evidence)
Fetal anomalies v1.496 POLG2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.496 POLG2 Arina Puzriakova Gene: polg2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.495 POLG2 Arina Puzriakova Tag for-review tag was added to gene: POLG2.
Fetal anomalies v1.495 PNPLA1 Arina Puzriakova Phenotypes for gene: PNPLA1 were changed from CONGENITAL ICHTHYOSIS to Ichthyosis, congenital, autosomal recessive 10, OMIM:615024; Autosomal recessive congenital ichthyosis 10, MONDO:0014011
Fetal anomalies v1.494 POLR1A Arina Puzriakova Phenotypes for gene: POLR1A were changed from ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651
Fetal anomalies v1.493 POLR1A Arina Puzriakova Classified gene: POLR1A as Amber List (moderate evidence)
Fetal anomalies v1.493 POLR1A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.493 POLR1A Arina Puzriakova Gene: polr1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.492 POLR1A Arina Puzriakova Tag for-review tag was added to gene: POLR1A.
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Classified gene: PNPLA1 as Amber List (moderate evidence)
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.492 PNPLA1 Arina Puzriakova Gene: pnpla1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.491 PNPLA1 Arina Puzriakova Tag for-review tag was added to gene: PNPLA1.
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 v1.490 PITX1 Arina Puzriakova Classified gene: PITX1 as Amber List (moderate evidence)
Fetal anomalies v1.490 PITX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.490 PITX1 Arina Puzriakova Gene: pitx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.489 PITX1 Arina Puzriakova Tag for-review tag was added to gene: PITX1.
Fetal anomalies v1.489 PIGN Arina Puzriakova Phenotypes for gene: PIGN were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME to Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080; Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563
Fetal anomalies v1.488 PIGN Arina Puzriakova Classified gene: PIGN as Amber List (moderate evidence)
Fetal anomalies v1.488 PIGN Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.488 PIGN Arina Puzriakova Gene: pign has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.487 PIGN Arina Puzriakova Tag for-review tag was added to gene: PIGN.
Fetal anomalies v1.487 PGM3 Arina Puzriakova Publications for gene: PGM3 were set to
Fetal anomalies v1.486 PGM3 Arina Puzriakova Phenotypes for gene: PGM3 were changed from IMMUNODEFICIENCY 23 to Immunodeficiency 23, OMIM:615816; PGM3-CDG, MONDO:0014353
Fetal anomalies v1.485 PGM3 Arina Puzriakova Classified gene: PGM3 as Amber List (moderate evidence)
Fetal anomalies v1.485 PGM3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene has been upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.485 PGM3 Arina Puzriakova Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.484 PGM3 Arina Puzriakova Tag for-review tag was added to gene: PGM3.
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 v1.482 P4HB Arina Puzriakova Classified gene: P4HB as Amber List (moderate evidence)
Fetal anomalies v1.482 P4HB Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.482 P4HB Arina Puzriakova Gene: p4hb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.481 P4HB Arina Puzriakova Tag for-review tag was added to gene: P4HB.
Fetal anomalies v1.481 OSGEP Arina Puzriakova Classified gene: OSGEP as Amber List (moderate evidence)
Fetal anomalies v1.481 OSGEP Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.481 OSGEP Arina Puzriakova Gene: osgep has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.480 OSGEP Arina Puzriakova Tag for-review tag was added to gene: OSGEP.
Fetal anomalies v1.480 NEK8 Arina Puzriakova Phenotypes for gene: NEK8 were changed from RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; NEPHRONOPHTHISIS 9 to ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174
Fetal anomalies v1.479 NEK8 Arina Puzriakova Publications for gene: NEK8 were set to
Fetal anomalies v1.478 NEK8 Arina Puzriakova Classified gene: NEK8 as Amber List (moderate evidence)
Fetal anomalies v1.478 NEK8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.478 NEK8 Arina Puzriakova Gene: nek8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.477 NEK8 Arina Puzriakova Tag for-review tag was added to gene: NEK8.
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 v1.476 NEDD4L Arina Puzriakova Classified gene: NEDD4L as Amber List (moderate evidence)
Fetal anomalies v1.476 NEDD4L Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.476 NEDD4L Arina Puzriakova Gene: nedd4l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.475 NEDD4L Arina Puzriakova Tag for-review tag was added to gene: NEDD4L.
Fetal anomalies v1.475 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090; Hypoplasminogenemia, MONDO:0009009
Fetal anomalies v1.474 PLAG1 Arina Puzriakova Phenotypes for gene: PLAG1 were changed from Silver-Russell syndrome 4 to Silver-Russell syndrome 4, OMIM:618907; Silver-russell syndrome 4, MONDO:0030118
Fetal anomalies v1.473 PIK3C2A Arina Puzriakova Phenotypes for gene: PIK3C2A were changed from Oculoskeletodental syndrome to Oculoskeletodental syndrome, OMIM:618440; Oculocerebrodental syndrome, MONDO:0034145
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 v1.471 PIBF1 Arina Puzriakova Phenotypes for gene: PIBF1 were changed from Joubert syndrome 33 to Joubert syndrome 33, OMIM:617767; Joubert syndrome 33, MONDO:0033311
Fetal anomalies v1.470 PLG Arina Puzriakova Classified gene: PLG as Amber List (moderate evidence)
Fetal anomalies v1.470 PLG Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.470 PLG Arina Puzriakova Gene: plg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.469 PLG Arina Puzriakova Tag for-review tag was added to gene: PLG.
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Classified gene: PLAG1 as Amber List (moderate evidence)
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.469 PLAG1 Arina Puzriakova Gene: plag1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.468 PLAG1 Arina Puzriakova Tag for-review tag was added to gene: PLAG1.
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Classified gene: PIH1D3 as Amber List (moderate evidence)
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.468 PIH1D3 Arina Puzriakova Gene: pih1d3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Classified gene: PIK3C2A as Amber List (moderate evidence)
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.467 PIK3C2A Arina Puzriakova Gene: pik3c2a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.466 PIK3C2A Arina Puzriakova Tag for-review tag was added to gene: PIK3C2A.
Fetal anomalies v1.466 PIH1D3 Arina Puzriakova Tag for-review tag was added to gene: PIH1D3.
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Classified gene: PIBF1 as Amber List (moderate evidence)
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.466 PIBF1 Arina Puzriakova Gene: pibf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.465 PIBF1 Arina Puzriakova Tag for-review tag was added to gene: PIBF1.
Fetal anomalies v1.465 PFKM Arina Puzriakova Phenotypes for gene: PFKM were changed from Glycogen storage disease VII to Glycogen storage disease VII, OMIM:232800; Glycogen storage disease VII, MONDO:0009295
Fetal anomalies v1.464 PFKM Arina Puzriakova Classified gene: PFKM as Amber List (moderate evidence)
Fetal anomalies v1.464 PFKM Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.464 PFKM Arina Puzriakova Gene: pfkm has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.463 PFKM Arina Puzriakova Tag for-review tag was added to gene: PFKM.
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 v1.462 PBX1 Arina Puzriakova Classified gene: PBX1 as Amber List (moderate evidence)
Fetal anomalies v1.462 PBX1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.462 PBX1 Arina Puzriakova Gene: pbx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.461 PBX1 Arina Puzriakova Tag for-review tag was added to gene: PBX1.
Fetal anomalies v1.461 PAX7 Arina Puzriakova Phenotypes for gene: PAX7 were changed from Myopathy, congenital, progressive, with scoliosis to Myopathy, congenital, progressive, with scoliosis, OMIM:618578; Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
Fetal anomalies v1.460 PAX7 Arina Puzriakova Classified gene: PAX7 as Amber List (moderate evidence)
Fetal anomalies v1.460 PAX7 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.460 PAX7 Arina Puzriakova Gene: pax7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.459 PAX7 Arina Puzriakova Tag for-review tag was added to gene: PAX7.
Fetal anomalies v1.459 NXN Arina Puzriakova Phenotypes for gene: NXN were changed from Robinow syndrome, autosomal recessive 2 to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800
Fetal anomalies v1.458 NXN Arina Puzriakova Classified gene: NXN as Amber List (moderate evidence)
Fetal anomalies v1.458 NXN Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.458 NXN Arina Puzriakova Gene: nxn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.457 NXN Arina Puzriakova Tag for-review tag was added to gene: NXN.
Fetal anomalies v1.457 NECTIN1 Arina Puzriakova Phenotypes for gene: NECTIN1 were changed from Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 to Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060; Orofacial cleft 7, OMIM:225060
Fetal anomalies v1.456 NIPAL4 Arina Puzriakova Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6 to Ichthyosis, congenital, autosomal recessive 6, OMIM:612281; Autosomal recessive congenital ichthyosis 6, MONDO:0012847
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Classified gene: NIPAL4 as Amber List (moderate evidence)
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.455 NIPAL4 Arina Puzriakova Gene: nipal4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.454 NIPAL4 Arina Puzriakova Tag for-review tag was added to gene: NIPAL4.
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Classified gene: NECTIN1 as Amber List (moderate evidence)
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.454 NECTIN1 Arina Puzriakova Gene: nectin1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.453 NECTIN1 Arina Puzriakova Tag for-review tag was added to gene: NECTIN1.
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 v1.452 NADSYN1 Arina Puzriakova Classified gene: NADSYN1 as Amber List (moderate evidence)
Fetal anomalies v1.452 NADSYN1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.452 NADSYN1 Arina Puzriakova Gene: nadsyn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.451 NADSYN1 Arina Puzriakova Tag for-review tag was added to gene: NADSYN1.
Fetal anomalies v1.451 MYPN Arina Puzriakova Classified gene: MYPN as Amber List (moderate evidence)
Fetal anomalies v1.451 MYPN Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.451 MYPN Arina Puzriakova Gene: mypn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.450 MYPN Arina Puzriakova Tag for-review tag was added to gene: MYPN.
Fetal anomalies v1.450 MOGS Arina Puzriakova Phenotypes for gene: MOGS were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type IIb, OMIM:606056; MOGS-CDG, MONDO:0011629
Fetal anomalies v1.449 MOGS Arina Puzriakova Classified gene: MOGS as Amber List (moderate evidence)
Fetal anomalies v1.449 MOGS Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.449 MOGS Arina Puzriakova Gene: mogs has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.448 MOGS Arina Puzriakova Tag for-review tag was added to gene: MOGS.
Fetal anomalies v1.448 MEOX1 Arina Puzriakova Phenotypes for gene: MEOX1 were changed from KLIPPEL-FEIL ANOMALY to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Classified gene: MEOX1 as Amber List (moderate evidence)
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.447 MEOX1 Arina Puzriakova Gene: meox1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.446 MEOX1 Arina Puzriakova Tag for-review tag was added to gene: MEOX1.
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 v1.445 MAP3K7 Arina Puzriakova Classified gene: MAP3K7 as Amber List (moderate evidence)
Fetal anomalies v1.445 MAP3K7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.445 MAP3K7 Arina Puzriakova Gene: map3k7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.444 MAP3K7 Arina Puzriakova Tag for-review tag was added to gene: MAP3K7.
Fetal anomalies v1.444 LONP1 Arina Puzriakova Phenotypes for gene: LONP1 were changed from CODAS SYNDROME to CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879
Fetal anomalies v1.443 LONP1 Arina Puzriakova Classified gene: LONP1 as Amber List (moderate evidence)
Fetal anomalies v1.443 LONP1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.443 LONP1 Arina Puzriakova Gene: lonp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.442 LONP1 Arina Puzriakova Tag for-review tag was added to gene: LONP1.
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 v1.441 LAMB1 Arina Puzriakova Classified gene: LAMB1 as Amber List (moderate evidence)
Fetal anomalies v1.441 LAMB1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.441 LAMB1 Arina Puzriakova Gene: lamb1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.440 LAMB1 Arina Puzriakova Tag for-review tag was added to gene: LAMB1.
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 v1.439 KLHL7 Arina Puzriakova Classified gene: KLHL7 as Amber List (moderate evidence)
Fetal anomalies v1.439 KLHL7 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.439 KLHL7 Arina Puzriakova Gene: klhl7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.438 KLHL7 Arina Puzriakova Tag for-review tag was added to gene: KLHL7.
Fetal anomalies v1.438 KIF5C Arina Puzriakova Phenotypes for gene: KIF5C were changed from CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 to Cortical dysplasia, complex, with other brain malformations 2, OMIM:615282; Complex cortical dysplasia with other brain malformations 2, MONDO:0014116
Fetal anomalies v1.437 KIF5C Arina Puzriakova Classified gene: KIF5C as Amber List (moderate evidence)
Fetal anomalies v1.437 KIF5C Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.437 KIF5C Arina Puzriakova Gene: kif5c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.436 KIF5C Arina Puzriakova Tag for-review tag was added to gene: KIF5C.
Fetal anomalies v1.436 USP9X Catherine Snow Classified gene: USP9X as Amber List (moderate evidence)
Fetal anomalies v1.436 USP9X Catherine Snow Added comment: Comment on list classification: Gene reviewed by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.436 USP9X Catherine Snow Gene: usp9x has been classified as Amber List (Moderate Evidence).
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 v1.434 USP9X Catherine Snow Tag for-review tag was added to gene: USP9X.
Fetal anomalies v1.434 VAMP1 Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence)
Fetal anomalies v1.434 VAMP1 Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.434 HIST1H1E Arina Puzriakova Phenotypes for gene: HIST1H1E were changed from Childhood overgrowth to Rahman syndrome, OMIM:617537; Rahman syndrome, MONDO:0044323
Fetal anomalies v1.433 KIF2A Arina Puzriakova Phenotypes for gene: KIF2A were changed from MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. to Cortical dysplasia, complex, with other brain malformations 3, OMIM:615411; Complex cortical dysplasia with other brain malformations 3, MONDO:0014170
Fetal anomalies v1.432 KIF2A Arina Puzriakova Classified gene: KIF2A as Amber List (moderate evidence)
Fetal anomalies v1.432 KIF2A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.432 KIF2A Arina Puzriakova Gene: kif2a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.431 KIF2A Arina Puzriakova Tag for-review tag was added to gene: KIF2A.
Fetal anomalies v1.431 ITGA8 Arina Puzriakova Phenotypes for gene: ITGA8 were changed from bilateral renal agenesis; anhydramnios; RENAL HYPODYSPLASIA/APLASIA 1; Renal hypodysplasia/aplasia 1, 191830 to Renal hypodysplasia/aplasia 1, OMIM:191830; Renal hypodysplasia/aplasia 1, MONDO:0024519
Fetal anomalies v1.430 VAMP1 Catherine Snow Tag for-review tag was added to gene: VAMP1.
Fetal anomalies v1.430 VAMP1 Catherine Snow Publications for gene: VAMP1 were set to
Fetal anomalies v1.429 VAMP1 Catherine Snow Classified gene: VAMP1 as Amber List (moderate evidence)
Fetal anomalies v1.429 VAMP1 Catherine Snow Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.429 VAMP1 Catherine Snow Gene: vamp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.428 VEGFC Catherine Snow changed review comment from: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag); to: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Classified gene: ITGA8 as Amber List (moderate evidence)
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)

ITGA8 is also Green on the 'Unexplained paediatric onset end-stage renal disease v.1.2' GMS panel
Fetal anomalies v1.428 ITGA8 Arina Puzriakova Gene: itga8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.427 ITGA8 Arina Puzriakova Tag for-review tag was added to gene: ITGA8.
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Classified gene: HIST1H1E as Amber List (moderate evidence)
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.427 HIST1H1E Arina Puzriakova Gene: hist1h1e has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.426 HIST1H1E Arina Puzriakova Tag for-review tag was added to gene: HIST1H1E.
Fetal anomalies v1.426 HESX1 Arina Puzriakova Classified gene: HESX1 as Amber List (moderate evidence)
Fetal anomalies v1.426 HESX1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.426 HESX1 Arina Puzriakova Gene: hesx1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.425 HESX1 Arina Puzriakova Tag for-review tag was added to gene: HESX1.
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 v1.424 GZF1 Arina Puzriakova Classified gene: GZF1 as Amber List (moderate evidence)
Fetal anomalies v1.424 GZF1 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.424 GZF1 Arina Puzriakova Gene: gzf1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.423 GZF1 Arina Puzriakova Tag for-review tag was added to gene: GZF1.
Fetal anomalies v1.423 GPC6 Arina Puzriakova Phenotypes for gene: GPC6 were changed from OMODYSPLASIA TYPE 1 (OMOD1) [ to Omodysplasia 1, OMIM:258315; Autosomal recessive omodysplasia, MONDO:0009779
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 v1.421 GPC6 Arina Puzriakova Classified gene: GPC6 as Amber List (moderate evidence)
Fetal anomalies v1.421 GPC6 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.421 GPC6 Arina Puzriakova Gene: gpc6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.420 GPC6 Arina Puzriakova Tag for-review tag was added to gene: GPC6.
Fetal anomalies v1.420 GMNN Arina Puzriakova Classified gene: GMNN as Amber List (moderate evidence)
Fetal anomalies v1.420 GMNN Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.420 GMNN Arina Puzriakova Gene: gmnn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.419 GMNN Arina Puzriakova Tag for-review tag was added to gene: GMNN.
Fetal anomalies v1.419 HADHB Arina Puzriakova Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency to Trifunctional protein deficiency, OMIM:609015; Mitochondrial trifunctional protein deficiency, MONDO:0012172
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 v1.417 HADHB Arina Puzriakova Classified gene: HADHB as Amber List (moderate evidence)
Fetal anomalies v1.417 HADHB Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.417 HADHB Arina Puzriakova Gene: hadhb has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.416 HADHB Arina Puzriakova Tag for-review tag was added to gene: HADHB.
Fetal anomalies v1.416 GSC Arina Puzriakova Classified gene: GSC as Amber List (moderate evidence)
Fetal anomalies v1.416 GSC Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.416 GSC Arina Puzriakova Gene: gsc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.415 GSC Arina Puzriakova Tag for-review tag was added to gene: GSC.
Fetal anomalies v1.415 GLI1 Arina Puzriakova Phenotypes for gene: GLI1 were changed from Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400 to Polydactyly, postaxial, type A8, OMIM:618123; Polydactyly, postaxial, type A8, MONDO:0029130; Polydactyly, preaxial I, OMIM:174400; Preaxial polydactyly of fingers, MONDO:0017425
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 v1.412 GANAB Arina Puzriakova Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 to Polycystic kidney disease 3, OMIM:600666; Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
Fetal anomalies v1.411 FZD2 Arina Puzriakova Phenotypes for gene: FZD2 were changed from Omodysplasia 2 to Omodysplasia 2, OMIM:164745; Autosomal dominant omodysplasia, MONDO:0008123
Fetal anomalies v1.410 FUT8 Arina Puzriakova Phenotypes for gene: FUT8 were changed from Congenital disorder of glycosylation with defective fucosylation 1 to Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005; Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775
Fetal anomalies v1.409 FKBP10 Arina Puzriakova Phenotypes for gene: FKBP10 were changed from Bruck syndrome 1; Osteogenesis imperfecta, type XI to Bruck syndrome 1, OMIM:259450; Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592
Fetal anomalies v1.408 GLI1 Arina Puzriakova Classified gene: GLI1 as Amber List (moderate evidence)
Fetal anomalies v1.408 GLI1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.408 GLI1 Arina Puzriakova Gene: gli1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.407 GLI1 Arina Puzriakova Tag for-review tag was added to gene: GLI1.
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Classified gene: GFPT1 as Amber List (moderate evidence)
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.407 GFPT1 Arina Puzriakova Gene: gfpt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.406 GFPT1 Arina Puzriakova Tag for-review tag was added to gene: GFPT1.
Fetal anomalies v1.406 GATA3 Arina Puzriakova Classified gene: GATA3 as Amber List (moderate evidence)
Fetal anomalies v1.406 GATA3 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.406 GATA3 Arina Puzriakova Gene: gata3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.405 GATA3 Arina Puzriakova Tag for-review tag was added to gene: GATA3.
Fetal anomalies v1.405 GANAB Arina Puzriakova Classified gene: GANAB as Amber List (moderate evidence)
Fetal anomalies v1.405 GANAB Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.405 GANAB Arina Puzriakova Gene: ganab has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.404 GANAB Arina Puzriakova Tag for-review tag was added to gene: GANAB.
Fetal anomalies v1.404 FZD2 Arina Puzriakova Classified gene: FZD2 as Amber List (moderate evidence)
Fetal anomalies v1.404 FZD2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.404 FZD2 Arina Puzriakova Gene: fzd2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.403 FZD2 Arina Puzriakova Tag for-review tag was added to gene: FZD2.
Fetal anomalies v1.403 FUT8 Arina Puzriakova Classified gene: FUT8 as Amber List (moderate evidence)
Fetal anomalies v1.403 FUT8 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.403 FUT8 Arina Puzriakova Gene: fut8 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.402 FUT8 Arina Puzriakova Tag for-review tag was added to gene: FUT8.
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Classified gene: FKBP10 as Amber List (moderate evidence)
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.402 FKBP10 Arina Puzriakova Gene: fkbp10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.401 FKBP10 Arina Puzriakova Tag for-review tag was added to gene: FKBP10.
Fetal anomalies v1.401 FAM46A Arina Puzriakova Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII to Osteogenesis imperfecta, type XVIII, OMIM:617952; Osteogenesis imperfecta, type 18, MONDO:0044329
Fetal anomalies v1.400 FAM46A Arina Puzriakova Classified gene: FAM46A as Amber List (moderate evidence)
Fetal anomalies v1.400 FAM46A Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.400 FAM46A Arina Puzriakova Gene: fam46a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.399 FAM46A Arina Puzriakova Tag for-review tag was added to gene: FAM46A.
Fetal anomalies v1.399 EMX2 Arina Puzriakova Classified gene: EMX2 as Amber List (moderate evidence)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.399 EMX2 Arina Puzriakova Gene: emx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.398 EMX2 Arina Puzriakova Tag for-review tag was added to gene: EMX2.
Fetal anomalies v1.398 EML1 Arina Puzriakova Classified gene: EML1 as Amber List (moderate evidence)
Fetal anomalies v1.398 EML1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.398 EML1 Arina Puzriakova Gene: eml1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.397 EML1 Arina Puzriakova Tag for-review tag was added to gene: EML1.
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Classified gene: DZIP1L as Amber List (moderate evidence)
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.397 DZIP1L Arina Puzriakova Gene: dzip1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.396 DZIP1L Arina Puzriakova Tag for-review tag was added to gene: DZIP1L.
Fetal anomalies v1.396 GALNT2 Sarah Leigh Classified gene: GALNT2 as Amber List (moderate evidence)
Fetal anomalies v1.396 GALNT2 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Fetal anomalies v1.396 GALNT2 Sarah Leigh Gene: galnt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.395 GALNT2 Sarah Leigh Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation, type IIt to Congenital disorder of glycosylation, type IIt OMIM:618885
Fetal anomalies v1.394 GALNT2 Sarah Leigh Publications for gene: GALNT2 were set to
Fetal anomalies v1.393 GALNT2 Sarah Leigh reviewed gene: GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.393 GALNT2 Sarah Leigh Tag for-review tag was added to gene: GALNT2.
Fetal anomalies v1.393 VEGFC Catherine Snow Classified gene: VEGFC as Amber List (moderate evidence)
Fetal anomalies v1.393 VEGFC Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.393 VEGFC Catherine Snow Gene: vegfc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.392 VEGFC Catherine Snow Tag for-review tag was added to gene: VEGFC.
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Classified gene: DYNC2LI1 as Amber List (moderate evidence)
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.392 DYNC2LI1 Arina Puzriakova Gene: dync2li1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.391 DYNC2LI1 Arina Puzriakova Tag for-review tag was added to gene: DYNC2LI1.
Fetal anomalies v1.391 VRK1 Catherine Snow Classified gene: VRK1 as Amber List (moderate evidence)
Fetal anomalies v1.391 VRK1 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.391 VRK1 Catherine Snow Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.390 VRK1 Catherine Snow Tag for-review tag was added to gene: VRK1.
Fetal anomalies v1.390 WDR73 Catherine Snow Tag for-review tag was added to gene: WDR73.
Fetal anomalies v1.390 WDR73 Catherine Snow Classified gene: WDR73 as Amber List (moderate evidence)
Fetal anomalies v1.390 WDR73 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.390 WDR73 Catherine Snow Gene: wdr73 has been classified as Amber List (Moderate Evidence).
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 v1.388 XYLT2 Catherine Snow Classified gene: XYLT2 as Amber List (moderate evidence)
Fetal anomalies v1.388 XYLT2 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.388 XYLT2 Catherine Snow Gene: xylt2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.387 XYLT2 Catherine Snow Tag for-review tag was added to gene: XYLT2.
Fetal anomalies v1.387 FANCL Arina Puzriakova Phenotypes for gene: FANCL were changed from FANCL-RELATED FANCONI ANEMIA; FANCONI ANEMIA to Fanconi anemia, complementation group L, OMIM:614083; Fanconi anemia complementation group L, MONDO:0013566
Fetal anomalies v1.386 EIF2S3 Arina Puzriakova Phenotypes for gene: EIF2S3 were changed from Syndromic ID with severe microcephaly to MEHMO syndrome, OMIM:300148; MEHMO syndrome, MONDO:0010258
Fetal anomalies v1.385 EED Arina Puzriakova Phenotypes for gene: EED were changed from Weaver-like overgrowth syndrome to Cohen-Gibson syndrome, OMIM:617561; Cohen-Gibson syndrome, MONDO:0060510
Fetal anomalies v1.384 FIG4 Arina Puzriakova Classified gene: FIG4 as Amber List (moderate evidence)
Fetal anomalies v1.384 FIG4 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.384 FIG4 Arina Puzriakova Gene: fig4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.383 FIG4 Arina Puzriakova Tag for-review tag was added to gene: FIG4.
Fetal anomalies v1.383 FANCL Arina Puzriakova Classified gene: FANCL as Amber List (moderate evidence)
Fetal anomalies v1.383 FANCL Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.383 FANCL Arina Puzriakova Gene: fancl has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.382 FANCL Arina Puzriakova Tag for-review tag was added to gene: FANCL.
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Classified gene: EIF2S3 as Amber List (moderate evidence)
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.382 EIF2S3 Arina Puzriakova Gene: eif2s3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.381 EIF2S3 Arina Puzriakova Tag for-review tag was added to gene: EIF2S3.
Fetal anomalies v1.381 EED Arina Puzriakova Classified gene: EED as Amber List (moderate evidence)
Fetal anomalies v1.381 EED Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.381 EED Arina Puzriakova Gene: eed has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.380 EED Arina Puzriakova Tag for-review tag was added to gene: EED.
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 v1.379 DPM3 Arina Puzriakova Classified gene: DPM3 as Amber List (moderate evidence)
Fetal anomalies v1.379 DPM3 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.379 DPM3 Arina Puzriakova Gene: dpm3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.378 DPM3 Arina Puzriakova Tag for-review tag was added to gene: DPM3.
Fetal anomalies v1.378 DDX59 Arina Puzriakova Phenotypes for gene: DDX59 were changed from OROFACIODIGITAL SYNDROME to Orofaciodigital syndrome V, OMIM:174300; Orofaciodigital syndrome V, MONDO:0008267
Fetal anomalies v1.377 DENND5A Arina Puzriakova Phenotypes for gene: DENND5A were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 49, OMIM:617281; Developmental and epileptic encephalopathy, 49, MONDO:0015002
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 v1.375 DNAAF5 Arina Puzriakova Classified gene: DNAAF5 as Amber List (moderate evidence)
Fetal anomalies v1.375 DNAAF5 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.375 DNAAF5 Arina Puzriakova Gene: dnaaf5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.374 DNAAF5 Arina Puzriakova Tag for-review tag was added to gene: DNAAF5.
Fetal anomalies v1.374 DENND5A Arina Puzriakova Classified gene: DENND5A as Amber List (moderate evidence)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.374 DENND5A Arina Puzriakova Gene: dennd5a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.373 DENND5A Arina Puzriakova Tag for-review tag was added to gene: DENND5A.
Fetal anomalies v1.373 DDX59 Arina Puzriakova Classified gene: DDX59 as Amber List (moderate evidence)
Fetal anomalies v1.373 DDX59 Arina Puzriakova Added comment: Comment on list classification: Following curation and clinical review at GOSH it has been agreed that the associated phenotype is fetally-relevant. Therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.373 DDX59 Arina Puzriakova Gene: ddx59 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.372 DDX59 Arina Puzriakova Tag for-review tag was added to gene: DDX59.
Fetal anomalies v1.372 DPM2 Arina Puzriakova Classified gene: DPM2 as Amber List (moderate evidence)
Fetal anomalies v1.372 DPM2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.372 DPM2 Arina Puzriakova Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.371 DPM2 Arina Puzriakova Tag for-review tag was added to gene: DPM2.
Fetal anomalies v1.371 DONSON Arina Puzriakova Classified gene: DONSON as Amber List (moderate evidence)
Fetal anomalies v1.371 DONSON Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.371 DONSON Arina Puzriakova Gene: donson has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.370 DONSON Arina Puzriakova Tag for-review tag was added to gene: DONSON.
Fetal anomalies v1.370 ZMYND10 Catherine Snow Classified gene: ZMYND10 as Amber List (moderate evidence)
Fetal anomalies v1.370 ZMYND10 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.370 ZMYND10 Catherine Snow Gene: zmynd10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.369 ZMYND10 Catherine Snow Tag for-review tag was added to gene: ZMYND10.
Fetal anomalies v1.369 DNM2 Arina Puzriakova Classified gene: DNM2 as Amber List (moderate evidence)
Fetal anomalies v1.369 DNM2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.369 DNM2 Arina Puzriakova Gene: dnm2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.368 DNM2 Arina Puzriakova Tag for-review tag was added to gene: DNM2.
Fetal anomalies v1.368 DNM1L Arina Puzriakova Classified gene: DNM1L as Amber List (moderate evidence)
Fetal anomalies v1.368 DNM1L Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.368 DNM1L Arina Puzriakova Gene: dnm1l has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.367 DNM1L Arina Puzriakova Tag for-review tag was added to gene: DNM1L.
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Classified gene: DNAL1 as Amber List (moderate evidence)
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.367 DNAL1 Arina Puzriakova Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.366 DNAL1 Arina Puzriakova Tag for-review tag was added to gene: DNAL1.
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Classified gene: DNAJB11 as Amber List (moderate evidence)
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.366 DNAJB11 Arina Puzriakova Gene: dnajb11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.365 DNAJB11 Arina Puzriakova Tag for-review tag was added to gene: DNAJB11.
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Classified gene: DNAI2 as Amber List (moderate evidence)
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.365 DNAI2 Arina Puzriakova Gene: dnai2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.364 DNAI2 Arina Puzriakova Tag for-review tag was added to gene: DNAI2.
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Classified gene: DNAAF2 as Amber List (moderate evidence)
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.364 DNAAF2 Arina Puzriakova Gene: dnaaf2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.363 DNAAF2 Arina Puzriakova Tag for-review tag was added to gene: DNAAF2.
Fetal anomalies v1.363 DLX5 Arina Puzriakova Classified gene: DLX5 as Amber List (moderate evidence)
Fetal anomalies v1.363 DLX5 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.363 DLX5 Arina Puzriakova Gene: dlx5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.362 DLX5 Arina Puzriakova Tag for-review tag was added to gene: DLX5.
Fetal anomalies v1.362 DISP1 Arina Puzriakova Classified gene: DISP1 as Amber List (moderate evidence)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.362 DISP1 Arina Puzriakova Gene: disp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.361 DISP1 Arina Puzriakova Tag for-review tag was added to gene: DISP1.
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Classified gene: DIAPH1 as Amber List (moderate evidence)
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.361 DIAPH1 Arina Puzriakova Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.360 DIAPH1 Arina Puzriakova Tag for-review tag was added to gene: DIAPH1.
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Classified gene: CYP4F22 as Amber List (moderate evidence)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Fetal anomalies v1.360 CYP4F22 Arina Puzriakova Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.359 CYP4F22 Arina Puzriakova Tag for-review tag was added to gene: CYP4F22.