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Fetal anomalies v3.157 | USP14 |
Zornitza Stark gene: USP14 was added gene: USP14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 38469793 Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related Review for gene: USP14 was set to AMBER Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. Sources: Literature |
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Fetal anomalies v3.156 | PLD1 |
Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel: Jesse Hayesmoore (Oxford Regional Genetics Laboratory) Red List (low evidence) "On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD. I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel. Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines." Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m |
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Fetal anomalies v3.150 | 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 v3.143 | 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 v3.134 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.117 | ESAM | Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.114 | FAM111A | Sarah Leigh Publications for gene: FAM111A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 | 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 | 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 v3.110 | 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) |
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Fetal anomalies v3.109 | ESAM |
Julia Baptista gene: ESAM was added gene: ESAM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to PMID: 36996813 Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies Review for gene: ESAM was set to GREEN Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant. Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features. Sources: Literature |
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Fetal anomalies v3.104 | SLC12A1 | Sarah Leigh Publications for gene: SLC12A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.97 | SLC25A24 | Sarah Leigh Publications for gene: SLC25A24 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.95 | SLC22A5 | Sarah Leigh Publications for gene: SLC22A5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v3.90 | ETFB | Sarah Leigh Publications for gene: ETFB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.87 | COASY | Sarah Leigh Publications for gene: COASY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.86 | PRKACB |
Arina Puzriakova gene: PRKACB was added gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACB. Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143 Penetrance for gene: PRKACB were set to unknown Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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Fetal anomalies v3.85 | PRKACA |
Arina Puzriakova gene: PRKACA was added gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACA. Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 33058759; 31130284 Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142 |
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Fetal anomalies v3.82 | GRIN2B | Arina Puzriakova Publications for gene: GRIN2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.74 | MYL9 | Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.71 | AGTR1 | Arina Puzriakova Publications for gene: AGTR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.69 | MECOM | Arina Puzriakova Publications for gene: MECOM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 | 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 | 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 v3.54 | RMND1 | Arina Puzriakova Publications for gene: RMND1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.53 | QRSL1 | Arina Puzriakova Publications for gene: QRSL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.48 | PET100 | Arina Puzriakova Publications for gene: PET100 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.46 | PDHX | Arina Puzriakova Publications for gene: PDHX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.43 | PC | Arina Puzriakova Publications for gene: PC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.42 | NDUFV2 | Arina Puzriakova Publications for gene: NDUFV2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.40 | NDUFS1 | Arina Puzriakova Publications for gene: NDUFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v3.34 | NDUFAF8 | Arina Puzriakova Publications for gene: NDUFAF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.33 | NDUFA6 | Arina Puzriakova Publications for gene: NDUFA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | MRPS14 | Arina Puzriakova Publications for gene: MRPS14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 | ECHS1 | Arina Puzriakova Publications for gene: ECHS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.21 | EARS2 | Arina Puzriakova Publications for gene: EARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.20 | DNA2 | Arina Puzriakova Publications for gene: DNA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.19 | DGUOK | Arina Puzriakova Publications for gene: DGUOK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.17 | DARS2 | Arina Puzriakova Publications for gene: DARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | COA6 | Arina Puzriakova Publications for gene: COA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.13 | C1QBP | Arina Puzriakova Publications for gene: C1QBP were set to 32304219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.12 | C19orf70 | Arina Puzriakova Publications for gene: C19orf70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.11 | ATP5O | Arina Puzriakova Publications for gene: ATP5O were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.9 | AARS2 | Arina Puzriakova Publications for gene: AARS2 were set to 30819764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 v3.7 | ZMYM2 |
Arina Puzriakova gene: ZMYM2 was added gene: ZMYM2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 |
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Fetal anomalies v3.7 | AGTR1 |
Arina Puzriakova gene: AGTR1 was added gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430 |
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Fetal anomalies v3.7 | 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 |
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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 |
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Fetal anomalies v3.7 | SDHD |
Arina Puzriakova gene: SDHD was added gene: SDHD was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167 |
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Fetal anomalies v3.7 | NDUFA12 |
Arina Puzriakova gene: NDUFA12 was added gene: NDUFA12 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
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Fetal anomalies v3.7 | WARS2 |
Arina Puzriakova gene: WARS2 was added gene: WARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710 |
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Fetal anomalies v3.7 | VARS2 |
Arina Puzriakova gene: VARS2 was added gene: VARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM:615917 |
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Fetal anomalies v3.7 | UQCRFS1 |
Arina Puzriakova gene: UQCRFS1 was added gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 |
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Fetal anomalies v3.7 | UQCC2 |
Arina Puzriakova gene: UQCC2 was added gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 |
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Fetal anomalies v3.7 | 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 |
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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 |
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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 |
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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 |
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Fetal anomalies v3.7 | SLC25A46 |
Arina Puzriakova gene: SLC25A46 was added gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303 |
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Fetal anomalies v3.7 | SLC25A1 |
Arina Puzriakova gene: SLC25A1 was added gene: SLC25A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182 |
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Fetal anomalies v3.7 | 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 |
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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 |
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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 |
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Fetal anomalies v3.7 | NDUFV2 |
Arina Puzriakova gene: NDUFV2 was added gene: NDUFV2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 |
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Fetal anomalies v3.7 | NDUFC2 |
Arina Puzriakova gene: NDUFC2 was added gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170 |
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Fetal anomalies v3.7 | NDUFB7 |
Arina Puzriakova gene: NDUFB7 was added gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 |
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Fetal anomalies v3.7 | NDUFB3 |
Arina Puzriakova gene: NDUFB3 was added gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 |
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Fetal anomalies v3.7 | NDUFAF8 |
Arina Puzriakova gene: NDUFAF8 was added gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 |
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Fetal anomalies v3.7 | NDUFA6 |
Arina Puzriakova gene: NDUFA6 was added gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 |
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Fetal anomalies v3.7 | 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 |
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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 |
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Fetal anomalies v3.7 | MTFMT |
Arina Puzriakova gene: MTFMT was added gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248 |
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Fetal anomalies v3.7 | 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 |
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Fetal anomalies v3.7 | MPC2 |
Arina Puzriakova gene: MPC2 was added gene: MPC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC2 were set to Mitochondrial pyruvate carrier deficiency |
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Fetal anomalies v3.7 | MPC1 |
Arina Puzriakova gene: MPC1 was added gene: MPC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, OMIM:614741 |
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Fetal anomalies v3.7 | 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 |
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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 |
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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 |
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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 |
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Fetal anomalies v3.7 | EARS2 |
Arina Puzriakova gene: EARS2 was added gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924 |
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Fetal anomalies v3.7 | 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 |
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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 |
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Fetal anomalies v3.7 | COX14 |
Arina Puzriakova gene: COX14 was added gene: COX14 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053 |
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Fetal anomalies v3.7 | COQ7 |
Arina Puzriakova gene: COQ7 was added gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733 |
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Fetal anomalies v3.7 | COA6 |
Arina Puzriakova gene: COA6 was added gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 |
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Fetal anomalies v3.7 | 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 |
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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 |
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Fetal anomalies v3.6 | CDX2 | Arina Puzriakova Publications for gene: CDX2 were set to PMID: 34671974 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.3 | KIF21A | Arina Puzriakova Publications for gene: KIF21A were set to 34740919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.1 | AARS2 |
Patrick Campbell gene: AARS2 was added gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 30819764 Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy Penetrance for gene: AARS2 were set to Complete Mode of pathogenicity for gene: AARS2 was set to Other Review for gene: AARS2 was set to GREEN Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy. Consideration should be given to adding the gene to R21. Sources: NHS GMS |
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Fetal anomalies v2.14 | PLXND1 |
Achchuthan Shanmugasundram gene: PLXND1 was added gene: PLXND1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were set to 35396997 Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660 Review for gene: PLXND1 was set to GREEN Added comment: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles. This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM. Sources: Literature |
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Fetal anomalies v2.10 | SETD2 |
Arina Puzriakova Tag Q3_22_rating was removed from gene: SETD2. Tag Q3_22_NHS_review was removed from gene: SETD2. |
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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 | 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 | 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 | 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 | 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 | 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) |
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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) |
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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) |
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Fetal anomalies v2.8 | KIF21A |
Hannah Robinson gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to 34740919 Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia Penetrance for gene: KIF21A were set to unknown Review for gene: KIF21A was set to GREEN gene: KIF21A was marked as current diagnostic Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms. Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth. Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association. Sources: Literature, NHS GMS |
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Fetal anomalies 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. |
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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 v1.977 | AP1S2 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease). |
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Fetal anomalies v1.973 | TBC1D32 | Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.968 | SETD2 | Arina Puzriakova Classified gene: SETD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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. |
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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 v1.963 | UNC13D | Arina Puzriakova Publications for gene: UNC13D were set to PMID: 33249554 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.958 | THSD1 | Arina Puzriakova Publications for gene: THSD1 were set to PMID: 28749478; 26036949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.953 | PIGS | Arina Puzriakova Publications for gene: PIGS were set to PMID: 30269814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.950 | NUP88 | Arina Puzriakova Publications for gene: NUP88 were set to 30543681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.949 | NONO | Arina Puzriakova Publications for gene: NONO were set to 32397791 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.947 | NDUFB10 | Arina Puzriakova Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.941 | 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 v1.938 | FTO | Arina Puzriakova Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.935 | FOXP2 | Arina Puzriakova Publications for gene: FOXP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.929 | DEPDC5 | Arina Puzriakova Publications for gene: DEPDC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.926 | CHRM3 | Arina Puzriakova Publications for gene: CHRM3 were set to 22077972; 31441039; 10944224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.918 | CACNA1D | Arina Puzriakova Publications for gene: CACNA1D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.913 | 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 v1.910 | AGT | Arina Puzriakova Publications for gene: AGT were set to PMID: 28976722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.908 | ACVRL1 | Arina Puzriakova Publications for gene: ACVRL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.901 | RAB11A | Eleanor Williams Publications for gene: RAB11A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.900 | ENG |
Rhiannon Mellis gene: ENG was added gene: ENG was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 Review for gene: ENG was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Consistency check because out of 4 known HHT genes EPHB4 and SMAD4 are on the fetal anomalies panel but ACVRL1 and ENG are not. No specific published reports of ENG variants detected prenatally but correlates with pulmonary AVMs which can present neonatally and can be detected on prenatal US (PMID: 17719943; PMID: 21988128). Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | 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 |
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Fetal anomalies v1.900 | MRPS16 |
Rhiannon Mellis gene: MRPS16 was added gene: MRPS16 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to PMID: 28749478 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2 Review for gene: MRPS16 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Amber on mitochondrial/inborn errors of metabolism etc. Not Green on any panel. One previous case reported with "agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the limbs, brachydactyly, and redundant skin over the neck. She died of intractable metabolic acidosis at age 3 days." PMID:15505824 (2004). One further fetal case reported by Shamseldin et al. 2018 (PMID: 28749478) with hydrops, very short long bones, and partial ACC Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | THSD1 |
Rhiannon Mellis gene: THSD1 was added gene: THSD1 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to PMID: 28749478; 26036949 Phenotypes for gene: THSD1 were set to Intracerebral aneurysms; ?Hydrops fetalis Review for gene: THSD1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Details of review: Not currently Green on any panels. Amber on Cerebral vascular malformations. (Heterozygous mutations identified in nine families with intracerebral aneurysms plus animal models but unclear on penetrance.) Shamseldin et al 2018 (PMID: 28749478) report a fetal case with hydrops and a HOMOZYGOUS likely pathogenic variant in THSD1. The same group previously identified this same founder mutation in THSD1 in another 3 families with hydrops/oedema (PMID: 26036949) Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | MYBPC3 |
Rhiannon Mellis gene: MYBPC3 was added gene: MYBPC3 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy; ?Congenital myopathy Review for gene: MYBPC3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Currently rated Green on the following other PanelApp panel(s): Various cardiomyopathy panels. Amber on congenital myopathy panel. Details of review: Previously only one (AR) case with skeletal muscle phenotype, although is a known cardiomyopathy gene (PMID: 19858127). One fetal case reported by Shamseldin et al 2018 (PMID: 28749478) with hydrops. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | CACNA1S |
Rhiannon Mellis gene: CACNA1S was added gene: CACNA1S was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to PMID: 33060286; 28012042 Phenotypes for gene: CACNA1S were set to Congenital myopathy; arthrogryposis Review for gene: CACNA1S was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Previously only monoallelic variants reported associated with malignant hyperthermia and periodic paralysis but more recently biallelic variants have been associated with congenital myopathy. In Ravenscroft et al 2020 (PMID: 33060286) the reported biallelic variants were VUS but strong suspicion of causality: the proband had polyhydramnios, scalp oedema, bilateral wrist contractures, bilateral talipes and reduced fetal movements, ToP at 26/40. Mild facial dysmorphic features were noted on autopsy, including low anterior hairline, mild hypertelorism and moderate retrognathia. A previous pregnancy was affected with polyhydramnios and reduced fetal movements, delivered at 32/40 due to placental abruption and died at 10 days. On photos the baby had ptosis and broad nasal tip. The biallelic variants segregated within the family (parents and the 2 unaffected sibs all het). No cell lines available for functional studies. Another study (PMID: 28012042) reports 7 families with congenital myopathy and CACNA1S mutations (both recessive and dominant), of whom 3 had cases with antenatal onset (reduced fetal movements). Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | NDUFB10 |
Rhiannon Mellis gene: NDUFB10 was added gene: NDUFB10 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730 Phenotypes for gene: NDUFB10 were set to Mitochondrial complex I deficiency Review for gene: NDUFB10 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any other panels (Amber/Red because only 1 case reported, with functional studies). Causes Mitochondrial complex 1 deficiency. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Non-immune hydrops fetalis and died after birth. The previous reported case on OMIM (from PMID: 28040730) was a female infant with IUGR, hydrops, lung hypoplasia and fetal cardiomyopathy - neonatal death with rapidly progressive lactic acidosis and PM found decreased complex 1 activity in skeletal muscle, heart, liver. Previous child of parents also had hydrops and died on day 1 of life. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | FTO |
Rhiannon Mellis gene: FTO was added gene: FTO was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117 Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism Review for gene: FTO was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any panels (only 2 families reported to date). On OMIM: Growth retardation, developmental delay, facial dysmorphism. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Dandy-Walker malformation, IUGR, and polyhydramnios. This fits with the phenotype reported in one consanguineous family with 9 affected individuals reported by Boissel 2009 PMID: 19559399. The other reported case is PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with growth retardation, failure to thrive, severely delayed development, Dysmorphic facial features, decreased brain parenchyma, delayed myelination, and a thin corpus callosum. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | 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 |
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Fetal anomalies v1.900 | UNC13D |
Rhiannon Mellis gene: UNC13D was added gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to PMID: 33249554 Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis Review for gene: UNC13D was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency Details of review: One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia. Sources: Literature, Expert Review |
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Fetal anomalies v1.900 | SERPINA11 |
Rhiannon Mellis gene: SERPINA11 was added gene: SERPINA11 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478 Phenotypes for gene: SERPINA11 were set to ?Hydrops fetalis Review for gene: SERPINA11 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene to watch for further evidence. Not currently rated Green on any other PanelApp panel(s). Details of review: No OMIM disease association currently. Reported as a novel genotype-phenotype association in Aggarwal 2020 (PMID: 31742715) in a fetus with homozygous nonsense variant. Fetus presented with pericardial effusion and on post-mortem was found to have serous cavity effusions, and generalised blebs of gelatinous material on the visceral surfaces. Histopathology and stains showed derangement of ECM and collagen fibres. Consanguineous couple with one similarly affected previous pregnancy. This gene is also reported in Shamseldin et al 2018 (PMID: 28749478) as a candidate gene in a fetus with hydrops. Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | LOX |
Rhiannon Mellis gene: LOX was added gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOX were set to PMID: 31742715 Phenotypes for gene: LOX were set to Aortopathy Review for gene: LOX was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): familial thoracic aortic aneurysm Details of review: Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm) Sources: Expert Review, Literature |
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Fetal anomalies v1.900 | TMEM70 | Arina Puzriakova Publications for gene: TMEM70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.896 | SPTA1 | Arina Puzriakova Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.895 | PLOD3 | Arina Puzriakova Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.891 | PLD1 | Arina Puzriakova Publications for gene: PLD1 were set to 27799408; 33645542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.890 | NMNAT2 | Arina Puzriakova Publications for gene: NMNAT2 were set to 31136762; 31132363; 23082226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.888 | NEXN | Arina Puzriakova Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.885 | NDUFB11 | Arina Puzriakova Publications for gene: NDUFB11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.883 | MED13L | Arina Puzriakova Publications for gene: MED13L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | SPTA1 |
Rhiannon Mellis gene: SPTA1 was added gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484 Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia Review for gene: SPTA1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops. Currently rated Green on the following other PanelApp panel(s): Congenital anaemias Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia. Sources: Literature, Expert Review |
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Fetal anomalies v1.880 | PLOD3 |
Rhiannon Mellis gene: PLOD3 was added gene: PLOD3 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency; IUGR; Contractures Review for gene: PLOD3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: May be fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending more evidence. Rated Green on the following other PanelApp panel(s): Cataracts Details of review: Phenotype on OMIM includes potentially fetally detectable phenotypes: IUGR, contractures, cataracts (?whether congenital). Salo et al 2008 (PMID: 18834968) describes a proband with IUGR, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, and downturned corners of the mouth. Skeletal features included talipes equinovarus, progressive scoliosis, osteopenia, and several pathologic fractures. A sib had IUGR and was stillborn, with finger contractures (but didn't seem to have molecular testing?). The fetal case in Cao et al 2021 had NT 5.2 mm (12/40), Reduced fetal movement (12/40), FGR (24/40), Enlarged posterior fossa (24/40), Intracranial haemorrhage (24/40), Clenched hands and fixated extended knees (24/40). Sources: Literature, Expert Review |
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Fetal anomalies v1.880 | NEXN |
Rhiannon Mellis gene: NEXN was added gene: NEXN was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: NEXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564 Phenotypes for gene: NEXN were set to Cardiomyopathy Review for gene: NEXN was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Gene usually causes adult-onset AD cardiomyopathy. However, there may be a fetally relevant phenotype with biallelic variants. Support adding to the Fetal anomalies panel as an Amber gene, pending more evidence of fetal phenotype (only 2 reported unrelated cases to date). Currently rated Green on the following other PanelApp panel(s): Cardiomyopathy (dilated) Details of review: The fetal case in Sparks et al (PMID: 33027564) had pericardial effusion, ascites, cardiomegaly, dilation and hypertrophy of cardiac ventricles, hypoplastic and dysplastic aortic valve, diminished systolic function, fetal growth restriction, and was stillborn. 2 NEXN variants found in the fetus (1 mat inherited, 1 de novo) but unable to confirm phase. The fetal case in Rinaldi et al 2021 (PMID: 32058062) had Cardiomegaly, low contractility/outflow, fibroelastosis of right ventricle. The fetus was compound het for NEXN variants and parents were both unaffected het with normal echos. They'd had one previous pregnancy with same phenotype. Sources: Literature, Expert Review |
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Fetal anomalies v1.875 | TUBG1 | Arina Puzriakova Publications for gene: TUBG1 were set to 23603762; 27010057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.873 | WNT7B |
Julia Baptista gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects Review for gene: WNT7B was set to GREEN Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected. Animal studies in Danio rerio were supportive. Lung hypoplasia with tracheal, ocular, cardiac, and renal defects. Sources: Expert Review |
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Fetal anomalies v1.873 | MTM1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported, including a heterozygous female with prenatal/neonatal onset (PMID: 12707446). MOI should therefore be updated form XLR to XLD at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.871 | ARHGAP29 | Eleanor Williams Publications for gene: ARHGAP29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.866 | CYP11A1 | Arina Puzriakova Publications for gene: CYP11A1 were set to 28425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.864 | ZFPM2 |
Anna de Burca gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 24702427 Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia Penetrance for gene: ZFPM2 were set to Incomplete Review for gene: ZFPM2 was set to AMBER Added comment: Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot. Sources: Literature |
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Fetal anomalies v1.863 | ACO2 | Sarah Leigh Publications for gene: ACO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.855 | LIFR | Eleanor Williams Publications for gene: LIFR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.853 | COL18A1 | Sarah Leigh Publications for gene: COL18A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.848 | PEX6 | Sarah Leigh Penetrance for gene PEX6 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.837 | 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 v1.831 | HSF4 | Arina Puzriakova Publications for gene: HSF4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.827 | RAC3 |
Rhiannon Mellis gene: RAC3 was added gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 30293988; 29276006 Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAC3 was set to GREEN Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child. Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients. All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance). Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family. Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006). Sources: Literature, Expert Review, NHS GMS |
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Fetal anomalies v1.826 | CDX2 |
Dmitrijs Rots gene: CDX2 was added gene: CDX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to PMID: 34671974 Phenotypes for gene: CDX2 were set to Multiple congenital anomalies Penetrance for gene: CDX2 were set to unknown Review for gene: CDX2 was set to GREEN Added comment: Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype. Sources: Literature |
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Fetal anomalies v1.822 | 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 |
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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 v1.812 | CLPB | Arina Puzriakova Publications for gene: CLPB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.802 | CNBP_CCTG |
Arina Puzriakova STR: CNBP_CCTG was added STR: CNBP_CCTG was added to Fetal anomalies. Sources: Expert Review STR, NGS Not Validated tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668 Added comment: The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30. The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent. ----- Copied from Rhiannon Mellis (GOSH) review of gene CNBP on Fetal anomalies panel: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Expert Review |
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Fetal anomalies v1.794 | MMP15 | Ivone Leong Publications for gene: MMP15 were set to PMID: 33875846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.793 | EDNRB | Ivone Leong Publications for gene: EDNRB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.791 | SMARCE1 | Arina Puzriakova Publications for gene: SMARCE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.788 | SLC6A9 | Arina Puzriakova Publications for gene: SLC6A9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.782 | PRIM1 | Arina Puzriakova Publications for gene: PRIM1 were set to PMID: 33060134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.780 | POLR1B | Arina Puzriakova Publications for gene: POLR1B were set to PMID: 31649276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.776 | LMNB2 | Arina Puzriakova Publications for gene: LMNB2 were set to PMID: 33033404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.774 | LMNB1 | Arina Puzriakova Publications for gene: LMNB1 were set to PMID: 33033404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.769 | FLNC | Arina Puzriakova Publications for gene: FLNC were set to PMID: 33060286; 29858533 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.766 | EXTL3 | Arina Puzriakova Publications for gene: EXTL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.762 | ENPP1 | Arina Puzriakova Publications for gene: ENPP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.760 | EIF5A | Arina Puzriakova Publications for gene: EIF5A were set to PMID: 33547280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.757 | CSF1R | Arina Puzriakova Publications for gene: CSF1R were set to PMID: 30982608 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.749 | MMP15 |
Dmitrijs Rots gene: MMP15 was added gene: MMP15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to PMID: 33875846 Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease Review for gene: MMP15 was set to AMBER Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel. Sources: Literature |
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Fetal anomalies v1.749 | 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 |
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Fetal anomalies v1.749 | POLR1B |
Rhiannon Mellis gene: POLR1B was added gene: POLR1B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to PMID: 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4 Review for gene: POLR1B was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias Details of review: PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B. Sources: Expert Review, Literature |
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Fetal anomalies v1.749 | CSF1R |
Rhiannon Mellis gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to PMID: 30982608 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) Review for gene: CSF1R was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608 NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form Sources: Expert Review |
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Fetal anomalies v1.749 | LMNB2 |
Rhiannon Mellis gene: LMNB2 was added gene: LMNB2 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB2 were set to PMID: 33033404 Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Expert Review, Literature |
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Fetal anomalies v1.749 | LMNB1 |
Rhiannon Mellis gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to PMID: 33033404 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant Review for gene: LMNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | 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 |
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Fetal anomalies v1.749 | PRIM1 |
Rhiannon Mellis gene: PRIM1 was added gene: PRIM1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to PMID: 33060134 Phenotypes for gene: PRIM1 were set to Primordial dwarfism Review for gene: PRIM1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | EXTL3 |
Rhiannon Mellis gene: EXTL3 was added gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities Review for gene: EXTL3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert Review |
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Fetal anomalies v1.749 | FLNC |
Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review; to: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies; Neuromuscular disorders; flagged for upgrade to Green on Arthrogryposis panel Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | FLNC |
Rhiannon Mellis gene: FLNC was added gene: FLNC was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to PMID: 33060286; 29858533 Phenotypes for gene: FLNC were set to Arthrogryposis Review for gene: FLNC was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review |
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Fetal anomalies v1.749 | CDK8 |
Rhiannon Mellis gene: CDK8 was added gene: CDK8 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK8 were set to PMID: 31742715; 30905399 Phenotypes for gene: CDK8 were set to Syndromic developmental disorder with hypotonia and behavioural abnormalities Review for gene: CDK8 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Intellectual disability; Severe paediatric disorders Details of review: Aggarwal et al 2020 report a heterozygous nonsense variant in a fetus with ventriculomegaly and Ebstein anomaly resulting in IUFD. Post-mortem found additionally congenital diaphragmatic hernia, common atrium and facial dysmorphism. This nonsense variant is at the same position as a hotspot for missense variants reported in a paediatric cohort (Calpena et al 2019, PMID: 30905399) with overlapping but milder phenotype: half of the 12 children in that cohort had cardiac defects, most had dysmorphic features - hence Aggarwal et al propose that this is a more severe (prenatal) presentation of the same multiple malformation syndrome, caused here by a nonsense rather than missense mutation. Sources: Literature, Expert Review |
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Fetal anomalies v1.738 | IFT122 | Sarah Leigh Publications for gene: IFT122 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.732 | ZC4H2 | Ivone Leong Publications for gene: ZC4H2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.729 | AP1S2 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline. |
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Fetal anomalies v1.727 | SCUBE3 |
Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown |
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Fetal anomalies v1.721 | TMEM260 | Sarah Leigh Publications for gene: TMEM260 were set to 28318500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.720 | WLS |
Zornitza Stark gene: WLS was added gene: WLS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386 Phenotypes for gene: WLS were set to structural congenital anomalies Review for gene: WLS was set to GREEN Added comment: - Homozygous variants in 10 affected persons from 5 unrelated families. - Affected individuals had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. - The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Sources: Literature |
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Fetal anomalies v1.720 | WNT9B |
Zornitza Stark gene: WNT9B was added gene: WNT9B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT9B were set to 34145744 Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia Review for gene: WNT9B was set to AMBER Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities. Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance. I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel. Sources: Literature |
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Fetal anomalies v1.719 | GREB1L | Ivone Leong Publications for gene: GREB1L were set to 29261186; 29100091; 31424080; 32378186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.706 | WDR91 | Arina Puzriakova Publications for gene: WDR91 were set to 32732226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.704 | PRKD1 | Arina Puzriakova Publications for gene: PRKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.703 | COL4A2 | Arina Puzriakova Publications for gene: COL4A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.702 | COL4A1 | Arina Puzriakova Publications for gene: COL4A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.692 | 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 |
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Fetal anomalies v1.689 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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Fetal anomalies v1.688 | 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 |
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Fetal anomalies v1.684 | ATAD3A | Arina Puzriakova Publications for gene: ATAD3A were set to 27640307; 28327206 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.676 | SPTBN5 | Arina Puzriakova Publications for gene: SPTBN5 were set to 32732226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.672 | ZNF3 |
Arina Puzriakova gene: ZNF3 was added gene: ZNF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.*132Trpext*69) in ZNF3 was found by exome sequencing. Sources: Literature |
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Fetal anomalies v1.671 | WDR91 |
Arina Puzriakova gene: WDR91 was added gene: WDR91 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 32732226 Phenotypes for gene: WDR91 were set to Hygroma; Hydrocephaly Review for gene: WDR91 was set to RED Added comment: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents Sources: Literature |
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Fetal anomalies v1.670 | SPTBN5 |
Arina Puzriakova gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN5 were set to 32732226 Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios Review for gene: SPTBN5 was set to RED Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature |
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Fetal anomalies v1.669 | SCN7A |
Arina Puzriakova gene: SCN7A was added gene: SCN7A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN7A were set to 32732226 Phenotypes for gene: SCN7A were set to Holoprosencephaly Review for gene: SCN7A was set to RED Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation. Sources: Literature |
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Fetal anomalies v1.668 | MYBPC2 |
Arina Puzriakova gene: MYBPC2 was added gene: MYBPC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC2 were set to 32732226 Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium Review for gene: MYBPC2 was set to RED Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs. Sources: Literature |
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Fetal anomalies v1.667 | DNAH2 |
Arina Puzriakova gene: DNAH2 was added gene: DNAH2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy Review for gene: DNAH2 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing. Sources: Literature |
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Fetal anomalies v1.666 | SMARCC1 | Arina Puzriakova Penetrance for gene SMARCC1 was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.665 | SMARCC1 |
Arina Puzriakova gene: SMARCC1 was added gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: SMARCC1. Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities |
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Fetal anomalies v1.663 | DPH1 |
Arina Puzriakova gene: DPH1 was added gene: DPH1 was added to Fetal anomalies. Sources: Literature Q2_21_rating tags were added to gene: DPH1. Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 29362492; 30877278; 32732226 Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Review for gene: DPH1 was set to GREEN Added comment: Biallelic variants in this gene cause a neurodevelopmental disorder characterised by ID/DD, short stature, dysmorphic features, craniofacial and ectodermal anomalies. Several reports note antenatal anomalies and multiple congenital abnormalities that may conceivably be detected prenatally. Fetal ultrasound phenotypes reported in literature include IUGR, polyhydramnios, craniostenosis, cardiac abnormalities, brain anomalies, and polydactyly (PMID: 25558065; 29362492; 30877278; 32732226) Sources: Literature |
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Fetal anomalies v1.661 | RFWD3 | Arina Puzriakova Publications for gene: RFWD3 were set to PMID: 2869192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.656 | FKBP8 | Arina Puzriakova Publications for gene: FKBP8 were set to 32969478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.655 | PLD1 | Arina Puzriakova Publications for gene: PLD1 were set to 33645542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.651 | TSEN54 | Arina Puzriakova Publications for gene: TSEN54 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.647 | OCRL | Eleanor Williams Publications for gene: OCRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.645 | FOXP4 |
Ivone Leong gene: FOXP4 was added gene: FOXP4 was added to Fetal anomalies. Sources: Literature Q2_21_rating, Q2_21_phenotype tags were added to gene: FOXP4. Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities Review for gene: FOXP4 was set to AMBER Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM. This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews: "This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature Zornitza Stark (Australian Genomics), 4 Nov 2020" "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 4 Dec 2020" After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group. Sources: Literature |
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Fetal anomalies v1.642 | FBN2 | Sarah Leigh Publications for gene: FBN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.638 | LARS2 | Arina Puzriakova Publications for gene: LARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.637 | PLD1 |
Suzanne Drury gene: PLD1 was added gene: PLD1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 33645542 Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638 Review for gene: PLD1 was set to GREEN Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects. Sources: Literature |
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Fetal anomalies v1.631 | KIDINS220 | Eleanor Williams Publications for gene: KIDINS220 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.629 | CDAN1 | Arina Puzriakova Publications for gene: CDAN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.627 | WBP11 |
Eleanor Williams gene: WBP11 was added gene: WBP11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WBP11 were set to 33276377 Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Review for gene: WBP11 was set to GREEN Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. Sources: Literature |
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Fetal anomalies v1.625 | OTUD5 |
Arina Puzriakova gene: OTUD5 was added gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Q2_21_rating tags were added to gene: OTUD5. Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33131077; 33523931 Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Review for gene: OTUD5 was set to GREEN Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype. - PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. - PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Sources: Expert Review |
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Fetal anomalies v1.623 | SYNE1 | Arina Puzriakova Publications for gene: SYNE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.621 | MYL9 | Arina Puzriakova Publications for gene: MYL9 were set to 29453416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.618 | GDF6 | Arina Puzriakova Publications for gene: GDF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.613 | PRUNE1 | Eleanor Williams Publications for gene: PRUNE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.611 | SUFU | Arina Puzriakova Publications for gene: SUFU were set to 28965847 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.608 | SMPD4 | Arina Puzriakova Publications for gene: SMPD4 were set to PMID: 31495489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.605 | SLC18A3 | Arina Puzriakova Publications for gene: SLC18A3 were set to PMID: 31059209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.582 | TRAP1 | Catherine Snow Publications for gene: TRAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.575 | TRAIP | Catherine Snow Publications for gene: TRAIP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.568 | STIL | Arina Puzriakova Publications for gene: STIL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.560 | TUBB3 | Catherine Snow Publications for gene: TUBB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.552 | TXNDC15 | Catherine Snow Publications for gene: TXNDC15 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.549 | UBE2T | Catherine Snow Publications for gene: UBE2T were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.546 | STAC3 | Arina Puzriakova Publications for gene: STAC3 were set to PMID: 30168660 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.528 | SCLT1 | Ivone Leong Publications for gene: SCLT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.487 | PGM3 | Arina Puzriakova Publications for gene: PGM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.479 | NEK8 | Arina Puzriakova Publications for gene: NEK8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.430 | VAMP1 | Catherine Snow Publications for gene: VAMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
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Fetal anomalies v1.394 | GALNT2 | Sarah Leigh Publications for gene: GALNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.320 | ANTXR2 | Arina Puzriakova Publications for gene: ANTXR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.317 | COLQ | Arina Puzriakova Publications for gene: COLQ were set to PMID: 9689136; 11865139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.302 | B4GAT1 | Arina Puzriakova Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.291 | WDR81 | Arina Puzriakova Publications for gene: WDR81 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.287 | MYOCD | Arina Puzriakova Publications for gene: MYOCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.284 | MYO9A | Arina Puzriakova Publications for gene: MYO9A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.281 | MYO18B | Arina Puzriakova Publications for gene: MYO18B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.278 | MYMK | Arina Puzriakova Publications for gene: MYMK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.274 | MYL1 | Arina Puzriakova Publications for gene: MYL1 were set to PMID: 30215711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.272 | MYH7 | Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.271 | MYH7 | Arina Puzriakova Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.269 | MYH2 | Arina Puzriakova Publications for gene: MYH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.265 | MSTO1 | Arina Puzriakova Publications for gene: MSTO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.262 | MSMO1 | Arina Puzriakova Publications for gene: MSMO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.258 | MRAS | Arina Puzriakova Publications for gene: MRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.256 | MESD | Arina Puzriakova Publications for gene: MESD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.252 | MEIS2 | Arina Puzriakova Publications for gene: MEIS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.250 | MAP3K20 | Arina Puzriakova Publications for gene: MAP3K20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.247 | MACF1 | Arina Puzriakova Publications for gene: MACF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.244 | LRRC56 | Arina Puzriakova Publications for gene: LRRC56 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.241 | KNL1 | Arina Puzriakova Publications for gene: KNL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.237 | KIAA0753 | Arina Puzriakova Publications for gene: KIAA0753 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.235 | KATNB1 | Arina Puzriakova Publications for gene: KATNB1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.232 | IFT81 | Arina Puzriakova Publications for gene: IFT81 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | MYPN |
Rhiannon Mellis gene: MYPN was added gene: MYPN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336 Review for gene: MYPN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | ALOX12B |
Rhiannon Mellis gene: ALOX12B was added gene: ALOX12B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 Review for gene: ALOX12B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | ALOXE3 |
Rhiannon Mellis gene: ALOXE3 was added gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 Review for gene: ALOXE3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | AMACR |
Rhiannon Mellis gene: AMACR was added gene: AMACR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307 Review for gene: AMACR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list |
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Fetal anomalies v1.229 | AMMECR1 |
Rhiannon Mellis gene: AMMECR1 was added gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 Review for gene: AMMECR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list |
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Fetal anomalies v1.229 | ANKS6 |
Rhiannon Mellis gene: ANKS6 was added gene: ANKS6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 Review for gene: ANKS6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel Sources: Expert list |
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Fetal anomalies v1.229 | ARHGAP29 |
Rhiannon Mellis gene: ARHGAP29 was added gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate Review for gene: ARHGAP29 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.229 | B4GAT1 |
Rhiannon Mellis gene: B4GAT1 was added gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Review for gene: B4GAT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570 Sources: Expert list |
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Fetal anomalies v1.229 | BNC2 |
Rhiannon Mellis gene: BNC2 was added gene: BNC2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612 Review for gene: BNC2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.229 | CACNA1G |
Rhiannon Mellis gene: CACNA1G was added gene: CACNA1G was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 Review for gene: CACNA1G was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia Sources: Expert list |
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Fetal anomalies v1.229 | CANT1 |
Rhiannon Mellis gene: CANT1 was added gene: CANT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 Review for gene: CANT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.229 | CASR |
Rhiannon Mellis gene: CASR was added gene: CASR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 Review for gene: CASR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.229 | CELSR1 |
Rhiannon Mellis gene: CELSR1 was added gene: CELSR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CELSR1 were set to hereditary lymphedema Review for gene: CELSR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Expert list |
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Fetal anomalies v1.229 | CENPF |
Rhiannon Mellis gene: CENPF was added gene: CENPF was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to PMID: 26820108; 25564561 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605 Review for gene: CENPF was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561 Sources: Expert list |
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Fetal anomalies v1.229 | CERS3 |
Rhiannon Mellis gene: CERS3 was added gene: CERS3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 Review for gene: CERS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.229 | CHRNA3 |
Rhiannon Mellis gene: CHRNA3 was added gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 Review for gene: CHRNA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.229 | CHRNB1 |
Rhiannon Mellis gene: CHRNB1 was added gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Review for gene: CHRNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | CHRNE |
Rhiannon Mellis gene: CHRNE was added gene: CHRNE was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Review for gene: CHRNE was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases. Sources: Expert list |
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Fetal anomalies v1.229 | CNBP |
Rhiannon Mellis gene: CNBP was added gene: CNBP was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 Review for gene: CNBP was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.229 | COG6 |
Rhiannon Mellis gene: COG6 was added gene: COG6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328 Review for gene: COG6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.229 | IFT52 | Arina Puzriakova Publications for gene: IFT52 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.228 | COL12A1 |
Rhiannon Mellis gene: COL12A1 was added gene: COL12A1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470 Review for gene: COL12A1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis Sources: Expert list |
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Fetal anomalies v1.228 | COLQ |
Rhiannon Mellis gene: COLQ was added gene: COLQ was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLQ were set to PMID: 9689136; 11865139 Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 Review for gene: COLQ was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally. Sources: Expert list |
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Fetal anomalies v1.228 | CREB3L1 |
Rhiannon Mellis gene: CREB3L1 was added gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229 Review for gene: CREB3L1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.228 | CRIPT |
Rhiannon Mellis gene: CRIPT was added gene: CRIPT was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789 Review for gene: CRIPT was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list |
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Fetal anomalies v1.228 | CTU2 |
Rhiannon Mellis gene: CTU2 was added gene: CTU2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Review for gene: CTU2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.228 | CYP26B1 |
Rhiannon Mellis gene: CYP26B1 was added gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Expert list |
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Fetal anomalies v1.228 | CYP4F22 |
Rhiannon Mellis gene: CYP4F22 was added gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 Review for gene: CYP4F22 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.226 | DIAPH1 |
Rhiannon Mellis gene: DIAPH1 was added gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632 Review for gene: DIAPH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.226 | DISP1 |
Rhiannon Mellis gene: DISP1 was added gene: DISP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DISP1 were set to 27363716 Phenotypes for gene: DISP1 were set to Holoprosencephaly Review for gene: DISP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Holoprosencephaly Sources: Expert list |
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Fetal anomalies v1.225 | DLX5 |
Rhiannon Mellis gene: DLX5 was added gene: DLX5 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 Review for gene: DLX5 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.225 | DNAAF2 |
Rhiannon Mellis gene: DNAAF2 was added gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518 Review for gene: DNAAF2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.225 | DNAI2 |
Rhiannon Mellis gene: DNAI2 was added gene: DNAI2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 Review for gene: DNAI2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.225 | DNAJB11 |
Rhiannon Mellis gene: DNAJB11 was added gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061 Review for gene: DNAJB11 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list |
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Fetal anomalies v1.225 | DNAL1 |
Rhiannon Mellis gene: DNAL1 was added gene: DNAL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017 Review for gene: DNAL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Additional comment: causes situs inversus Sources: Expert list |
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Fetal anomalies v1.225 | DNM1L |
Rhiannon Mellis gene: DNM1L was added gene: DNM1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 Review for gene: DNM1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list |
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Fetal anomalies v1.225 | ICK | Arina Puzriakova Publications for gene: ICK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.222 | HMGA2 | Arina Puzriakova Publications for gene: HMGA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.218 | AKT2 | Arina Puzriakova Publications for gene: AKT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | DNM2 |
Rhiannon Mellis gene: DNM2 was added gene: DNM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DNM2 were set to PMID: 30208955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368 Review for gene: DNM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017) NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955 Sources: Expert list |
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Fetal anomalies v1.215 | DONSON |
Rhiannon Mellis gene: DONSON was added gene: DONSON was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 Review for gene: DONSON was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.215 | DPM2 |
Rhiannon Mellis gene: DPM2 was added gene: DPM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042 Review for gene: DPM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.215 | DYNC2LI1 |
Rhiannon Mellis gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 Review for gene: DYNC2LI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.215 | DZIP1L |
Rhiannon Mellis gene: DZIP1L was added gene: DZIP1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610 Review for gene: DZIP1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel) Sources: Expert list |
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Fetal anomalies v1.215 | EML1 |
Rhiannon Mellis gene: EML1 was added gene: EML1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EML1 were set to Band heterotopia, 600348 Review for gene: EML1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Sources: Expert list |
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Fetal anomalies v1.215 | EMX2 |
Rhiannon Mellis gene: EMX2 was added gene: EMX2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to Schizencephaly, 269160 Review for gene: EMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.215 | FAM46A |
Rhiannon Mellis gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII Review for gene: FAM46A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | FKBP10 |
Rhiannon Mellis gene: FKBP10 was added gene: FKBP10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI Review for gene: FKBP10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | FUT8 |
Rhiannon Mellis gene: FUT8 was added gene: FUT8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1 Review for gene: FUT8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.215 | FZD2 |
Rhiannon Mellis gene: FZD2 was added gene: FZD2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD2 were set to Omodysplasia 2 Review for gene: FZD2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.215 | GALNT2 |
Rhiannon Mellis gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt Review for gene: GALNT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.215 | GANAB |
Rhiannon Mellis gene: GANAB was added gene: GANAB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 Review for gene: GANAB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list |
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Fetal anomalies v1.215 | GATA3 |
Rhiannon Mellis gene: GATA3 was added gene: GATA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia Review for gene: GATA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.215 | GFPT1 |
Rhiannon Mellis gene: GFPT1 was added gene: GFPT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v1.214 | GLI1 |
Rhiannon Mellis gene: GLI1 was added gene: GLI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400 Review for gene: GLI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders Sources: Expert list |
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Fetal anomalies v1.214 | GSC |
Rhiannon Mellis gene: GSC was added gene: GSC was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Review for gene: GSC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.214 | HADHB |
Rhiannon Mellis gene: HADHB was added gene: HADHB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency Review for gene: HADHB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally Sources: Expert list |
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Fetal anomalies v1.214 | HMGA2 |
Rhiannon Mellis gene: HMGA2 was added gene: HMGA2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5 Review for gene: HMGA2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list |
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Fetal anomalies v1.214 | ICK |
Rhiannon Mellis gene: ICK was added gene: ICK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia Review for gene: ICK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | IDH1 |
Rhiannon Mellis gene: IDH1 was added gene: IDH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096 Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 Review for gene: IDH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria). Sources: Expert list |
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Fetal anomalies v1.214 | IFT52 |
Rhiannon Mellis gene: IFT52 was added gene: IFT52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly Review for gene: IFT52 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | IFT81 |
Rhiannon Mellis gene: IFT81 was added gene: IFT81 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly Review for gene: IFT81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list |
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Fetal anomalies v1.214 | KATNB1 |
Rhiannon Mellis gene: KATNB1 was added gene: KATNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly Review for gene: KATNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.214 | KIAA0753 |
Rhiannon Mellis gene: KIAA0753 was added gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV Review for gene: KIAA0753 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.214 | KNL1 |
Rhiannon Mellis gene: KNL1 was added gene: KNL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive Review for gene: KNL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.214 | LRRC56 |
Rhiannon Mellis gene: LRRC56 was added gene: LRRC56 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 Review for gene: LRRC56 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism Sources: Expert list |
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Fetal anomalies v1.214 | MACF1 |
Rhiannon Mellis gene: MACF1 was added gene: MACF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation Review for gene: MACF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development Sources: Expert list |
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Fetal anomalies v1.214 | MAP3K20 |
Rhiannon Mellis gene: MAP3K20 was added gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion Review for gene: MAP3K20 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MEIS2 |
Rhiannon Mellis gene: MEIS2 was added gene: MEIS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation Review for gene: MEIS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.214 | MESD |
Rhiannon Mellis gene: MESD was added gene: MESD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX Review for gene: MESD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta Sources: Expert list |
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Fetal anomalies v1.214 | MRAS |
Rhiannon Mellis gene: MRAS was added gene: MRAS was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MRAS were set to Noonan syndrome 11 Review for gene: MRAS was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list |
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Fetal anomalies v1.214 | MSMO1 |
Rhiannon Mellis gene: MSMO1 was added gene: MSMO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis Review for gene: MSMO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.214 | MSTO1 |
Rhiannon Mellis gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia Review for gene: MSTO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYH2 |
Rhiannon Mellis gene: MYH2 was added gene: MYH2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia Review for gene: MYH2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally. Sources: Expert list |
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Fetal anomalies v1.214 | MYH7 |
Rhiannon Mellis gene: MYH7 was added gene: MYH7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809 Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 Review for gene: MYH7 was set to GREEN Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype. However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809 Sources: Literature |
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Fetal anomalies v1.214 | MYL1 |
Rhiannon Mellis gene: MYL1 was added gene: MYL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to PMID: 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy Review for gene: MYL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant. Sources: Expert list |
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Fetal anomalies v1.214 | MYMK |
Rhiannon Mellis gene: MYMK was added gene: MYMK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome Review for gene: MYMK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements. Sources: Expert list |
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Fetal anomalies v1.214 | MYO18B |
Rhiannon Mellis gene: MYO18B was added gene: MYO18B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Review for gene: MYO18B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYO9A |
Rhiannon Mellis gene: MYO9A was added gene: MYO9A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic Review for gene: MYO9A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.214 | MYOCD |
Rhiannon Mellis gene: MYOCD was added gene: MYOCD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOCD were set to Megabladder, congenital Review for gene: MYOCD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.214 | NADSYN1 |
Rhiannon Mellis gene: NADSYN1 was added gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3 Review for gene: NADSYN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.214 | NECTIN1 |
Rhiannon Mellis gene: NECTIN1 was added gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 Review for gene: NECTIN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list |
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Fetal anomalies v1.213 | NIPAL4 |
Rhiannon Mellis gene: NIPAL4 was added gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 Review for gene: NIPAL4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.213 | NXN |
Rhiannon Mellis gene: NXN was added gene: NXN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 Review for gene: NXN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.210 | TNNT3 | Arina Puzriakova Publications for gene: TNNT3 were set to 32779773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.209 | PAX7 |
Rhiannon Mellis gene: PAX7 was added gene: PAX7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis Review for gene: PAX7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.209 | PBX1 |
Rhiannon Mellis gene: PBX1 was added gene: PBX1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list |
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Fetal anomalies v1.209 | PFKM |
Rhiannon Mellis gene: PFKM was added gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII Review for gene: PFKM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: literature supports arthrogryposis in severe infantile form Sources: Expert list, Literature |
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Fetal anomalies v1.209 | PIBF1 |
Rhiannon Mellis gene: PIBF1 was added gene: PIBF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 Review for gene: PIBF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Sources: Expert list |
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Fetal anomalies v1.209 | TMX2 | Arina Puzriakova Publications for gene: TMX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.206 | TMEM98 | Arina Puzriakova Publications for gene: TMEM98 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.205 | PIH1D3 |
Rhiannon Mellis gene: PIH1D3 was added gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked Review for gene: PIH1D3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list |
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Fetal anomalies v1.205 | PIK3C2A |
Rhiannon Mellis gene: PIK3C2A was added gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome Review for gene: PIK3C2A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.205 | PLAG1 |
Rhiannon Mellis gene: PLAG1 was added gene: PLAG1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4 Review for gene: PLAG1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list |
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Fetal anomalies v1.205 | PLG |
Rhiannon Mellis gene: PLG was added gene: PLG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I Review for gene: PLG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia Sources: Expert list |
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Fetal anomalies v1.205 | POLG2 |
Rhiannon Mellis gene: POLG2 was added gene: POLG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Review for gene: POLG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.205 | POP1 |
Rhiannon Mellis gene: POP1 was added gene: POP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2 Review for gene: POP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.205 | PRKAG2 |
Rhiannon Mellis gene: PRKAG2 was added gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital Review for gene: PRKAG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.203 | TMEM38B | Arina Puzriakova Publications for gene: TMEM38B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.202 | PYGM |
Rhiannon Mellis gene: PYGM was added gene: PYGM was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McArdle disease Review for gene: PYGM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.201 | RAB33B |
Rhiannon Mellis gene: RAB33B was added gene: RAB33B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 Review for gene: RAB33B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.201 | RBBP8 |
Rhiannon Mellis gene: RBBP8 was added gene: RBBP8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBBP8 were set to Seckel syndrome 2 Review for gene: RBBP8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.200 | RPL10 |
Rhiannon Mellis gene: RPL10 was added gene: RPL10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 Review for gene: RPL10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list |
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Fetal anomalies v1.200 | TENM3 | Arina Puzriakova Publications for gene: TENM3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.197 | TCTEX1D2 | Arina Puzriakova Publications for gene: TCTEX1D2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.196 | RPS7 |
Rhiannon Mellis gene: RPS7 was added gene: RPS7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8 Review for gene: RPS7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Radial dysplasia Sources: Expert list |
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Fetal anomalies v1.196 | RRAS2 |
Rhiannon Mellis gene: RRAS2 was added gene: RRAS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 Review for gene: RRAS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list |
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Fetal anomalies v1.195 | SCLT1 |
Rhiannon Mellis gene: SCLT1 was added gene: SCLT1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome Review for gene: SCLT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Copied from rare multisystem ciliopathies panel: PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4), PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family. PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein. = 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein. Sources: Literature |
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Fetal anomalies v1.194 | SDR9C7 |
Rhiannon Mellis gene: SDR9C7 was added gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 Review for gene: SDR9C7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list |
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Fetal anomalies v1.193 | SERPINF1 |
Rhiannon Mellis gene: SERPINF1 was added gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI Review for gene: SERPINF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.193 | SERPINH1 |
Rhiannon Mellis gene: SERPINH1 was added gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X Review for gene: SERPINH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.193 | SGCG |
Rhiannon Mellis gene: SGCG was added gene: SGCG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5 Review for gene: SGCG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list |
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Fetal anomalies v1.193 | SULT2B1 | Arina Puzriakova Publications for gene: SULT2B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.192 | SIX6 |
Rhiannon Mellis gene: SIX6 was added gene: SIX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy Review for gene: SIX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Anophthalmia and microphthalmia Sources: Literature |
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Fetal anomalies v1.192 | SLC18A3 |
Rhiannon Mellis gene: SLC18A3 was added gene: SLC18A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic Review for gene: SLC18A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Literature |
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Fetal anomalies v1.190 | ADAMTS3 | Arina Puzriakova Publications for gene: ADAMTS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.189 | SLC29A3 |
Rhiannon Mellis gene: SLC29A3 was added gene: SLC29A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome Review for gene: SLC29A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Literature |
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Fetal anomalies v1.187 | SMPD4 |
Rhiannon Mellis gene: SMPD4 was added gene: SMPD4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Review for gene: SMPD4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489 Sources: Literature |
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Fetal anomalies v1.187 | SNX10 |
Rhiannon Mellis gene: SNX10 was added gene: SNX10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 Review for gene: SNX10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia Sources: Expert list |
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Fetal anomalies v1.187 | SOX18 |
Rhiannon Mellis gene: SOX18 was added gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome Review for gene: SOX18 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Literature, Expert list |
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Fetal anomalies v1.187 | SOX6 |
Rhiannon Mellis gene: SOX6 was added gene: SOX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome Review for gene: SOX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Literature |
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Fetal anomalies v1.187 | SP7 |
Rhiannon Mellis gene: SP7 was added gene: SP7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII Review for gene: SP7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Literature |
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Fetal anomalies v1.187 | STAC3 |
Rhiannon Mellis gene: STAC3 was added gene: STAC3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to PMID: 30168660 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch Review for gene: STAC3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660 Sources: Literature |
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Fetal anomalies v1.187 | STRADA |
Rhiannon Mellis gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy Review for gene: STRADA was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.187 | ERCC5 | Arina Puzriakova Publications for gene: ERCC5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | SULT2B1 |
Rhiannon Mellis gene: SULT2B1 was added gene: SULT2B1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 Review for gene: SULT2B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TBC1D32 |
Rhiannon Mellis gene: TBC1D32 was added gene: TBC1D32 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556 Phenotypes for gene: TBC1D32 were set to OFD IX Review for gene: TBC1D32 was set to GREEN Added comment: Now 5 families reported: The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype: - One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs - The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet - There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly Sources: Literature |
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Fetal anomalies v1.185 | TCTEX1D2 |
Rhiannon Mellis gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly Review for gene: TCTEX1D2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TENM3 |
Rhiannon Mellis gene: TENM3 was added gene: TENM3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9 Review for gene: TENM3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMEM38B |
Rhiannon Mellis gene: TMEM38B was added gene: TMEM38B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV Review for gene: TMEM38B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMEM98 |
Rhiannon Mellis gene: TMEM98 was added gene: TMEM98 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 Review for gene: TMEM98 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TMX2 |
Rhiannon Mellis gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Review for gene: TMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TNNT3 |
Rhiannon Mellis gene: TNNT3 was added gene: TNNT3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNT3 were set to 32779773 Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2 Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TNNT3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773 (copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B. Sources: Literature |
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Fetal anomalies v1.185 | TOR1A |
Rhiannon Mellis gene: TOR1A was added gene: TOR1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 29053766; 28516161 Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5 Review for gene: TOR1A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset Sources: Literature |
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Fetal anomalies v1.185 | TRAF3IP1 |
Rhiannon Mellis gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 Review for gene: TRAF3IP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TRAP1 |
Rhiannon Mellis gene: TRAP1 was added gene: TRAP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL Review for gene: TRAP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TRMT10A |
Rhiannon Mellis gene: TRMT10A was added gene: TRMT10A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1 Review for gene: TRMT10A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | TSFM |
Rhiannon Mellis gene: TSFM was added gene: TSFM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 Review for gene: TSFM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: IUGR, decreased fetal movements, reduced brain gyri Sources: Literature |
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Fetal anomalies v1.185 | TXNDC15 |
Rhiannon Mellis gene: TXNDC15 was added gene: TXNDC15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Comment from copied from skeletal ciliopathies panel: Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis. Sources: Other Sources: Literature |
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Fetal anomalies v1.185 | USP9X | Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.185 | VAMP1 |
Rhiannon Mellis gene: VAMP1 was added gene: VAMP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25 Review for gene: VAMP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | VEGFC |
Rhiannon Mellis gene: VEGFC was added gene: VEGFC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VEGFC were set to Lymphatic malformation 4 Review for gene: VEGFC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | WDR81 |
Rhiannon Mellis gene: WDR81 was added gene: WDR81 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies Review for gene: WDR81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | AKT2 |
Rhiannon Mellis gene: AKT2 was added gene: AKT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy Review for gene: AKT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | ADAMTS3 |
Rhiannon Mellis gene: ADAMTS3 was added gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 Review for gene: ADAMTS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature |
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Fetal anomalies v1.185 | NUAK2 | Arina Puzriakova Publications for gene: NUAK2 were set to 32845958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.181 | CALCRL | Arina Puzriakova Publications for gene: CALCRL were set to 30115739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.177 | TMEM260 | Arina Puzriakova Publications for gene: TMEM260 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.175 | GREB1L | Arina Puzriakova Publications for gene: GREB1L were set to 29261186; 29100091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.172 | AGRN | Arina Puzriakova Publications for gene: AGRN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.169 | NONO | Arina Puzriakova Publications for gene: NONO were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.166 | SNAP29 | Arina Puzriakova Publications for gene: SNAP29 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.164 | NUP88 | Arina Puzriakova Publications for gene: NUP88 were set to PMID: 30543681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.161 | TRAPPC12 | Arina Puzriakova Publications for gene: TRAPPC12 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.160 | TRAPPC12 | Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.158 | TRAPPC12 | Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.157 | NEK9 | Arina Puzriakova Publications for gene: NEK9 were set to 26908619 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.152 | ATP1A2 | Arina Puzriakova Publications for gene: ATP1A2 were set to 30690204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.151 | TMEM216 | Arina Puzriakova Publications for gene: TMEM216 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.148 | TMEM107 | Arina Puzriakova Publications for gene: TMEM107 were set to 26123494; 26518474; 26595381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.146 | TMEM107 | Arina Puzriakova Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.144 | KIF14 | Arina Puzriakova Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.141 | B9D1 | Arina Puzriakova Publications for gene: B9D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.138 | B9D2 | Arina Puzriakova Publications for gene: B9D2 were set to PMID: 21763481; 26092869 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.135 | AKT1 | Eleanor Williams Publications for gene: AKT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.132 | TBCD | Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.131 | TRIP4 | Arina Puzriakova Publications for gene: TRIP4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.130 | TRIP4 | Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.123 | AARS | Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.119 | FKBP8 |
Eleanor Williams gene: FKBP8 was added gene: FKBP8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FKBP8 were set to 32969478 Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414 Review for gene: FKBP8 was set to AMBER Added comment: Not associated with a phenotype in OMIM. PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects. Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered. Sources: Literature |
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Fetal anomalies v1.117 | SCN1A | Arina Puzriakova Publications for gene: SCN1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.116 | SCN1A | Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.115 | MN1 |
Rhiannon Mellis gene: MN1 was added gene: MN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774 Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to GREEN Added comment: Copied from MN1 review on Cortical malformations panel: Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P. Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis). Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. Sources: Literature |
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Fetal anomalies v1.114 | COX6B1 | Arina Puzriakova Publications for gene: COX6B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.110 | MAPRE2 | Arina Puzriakova Publications for gene: MAPRE2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.108 | GFRA1 |
Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel. Sources: Literature |
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Fetal anomalies v1.103 | USP18 | Arina Puzriakova Publications for gene: USP18 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.99 | FOXC1 | Eleanor Williams Publications for gene: FOXC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.98 | SMN1 | Eleanor Williams Publications for gene: SMN1 were set to 11826188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.97 | NUAK2 |
Zornitza Stark gene: NUAK2 was added gene: NUAK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUAK2 were set to 32845958 Phenotypes for gene: NUAK2 were set to Anencephaly Review for gene: NUAK2 was set to AMBER Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out. Sources: Literature |
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Fetal anomalies v1.97 | AHCY | Arina Puzriakova Publications for gene: AHCY were set to 30121674; 20852937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.95 | B9D2 |
Rhiannon Mellis gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to PMID: 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481) 2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869) NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH. Sources: Literature, NHS GMS |
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Fetal anomalies v1.95 | TMEM107 |
Rhiannon Mellis gene: TMEM107 was added gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381 Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI Review for gene: TMEM107 was set to GREEN gene: TMEM107 was marked as current diagnostic Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494) 1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474) 1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381) NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH Sources: Literature, NHS GMS |
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Fetal anomalies v1.95 | KIF14 |
Rhiannon Mellis gene: KIF14 was added gene: KIF14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419) Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224) Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560) Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805) Sources: Literature |
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Fetal anomalies v1.95 | SLC20A1 |
Zornitza Stark gene: SLC20A1 was added gene: SLC20A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 32850778; 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN gene: SLC20A1 was marked as current diagnostic Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel. Sources: Literature |
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Fetal anomalies v1.95 | TRPM7 |
Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth Review for gene: TRPM7 was set to AMBER Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association. Sources: Literature |
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Fetal anomalies v1.95 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. New MOI. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature |
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Fetal anomalies v1.94 | TOGARAM1 |
Arina Puzriakova gene: TOGARAM1 was added gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. Sources: Literature |
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Fetal anomalies v1.91 | SRY | Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.90 | SRY | Eleanor Williams Mode of inheritance for gene: SRY was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.74 | CALCRL |
Zornitza Stark gene: CALCRL was added gene: CALCRL was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CALCRL were set to 30115739 Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis Review for gene: CALCRL was set to RED Added comment: Single family reported with several affected pregnancies. Sources: Literature |
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Fetal anomalies v1.74 | AMBRA1 |
Zornitza Stark gene: AMBRA1 was added gene: AMBRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 17589504; 32333458 Phenotypes for gene: AMBRA1 were set to Neural tube defects Review for gene: AMBRA1 was set to GREEN gene: AMBRA1 was marked as current diagnostic Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects. Sources: Literature |
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Fetal anomalies v1.74 | CEP120 |
Rhiannon Mellis gene: CEP120 was added gene: CEP120 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to PMID: 2720821; 25361962 Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly Review for gene: CEP120 was set to GREEN Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy. PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD). CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders. Sources: Literature |
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Fetal anomalies v1.74 | SLC12A6 | Sarah Leigh Publications for gene: SLC12A6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.73 | TMEM94 |
Rhiannon Mellis gene: TMEM94 was added gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to PMID: 30526868 Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies Review for gene: TMEM94 was set to GREEN Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868 Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | GDF1 |
Rhiannon Mellis gene: GDF1 was added gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) Review for gene: GDF1 was set to GREEN Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257 Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes) This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel. Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | CFAP53 |
Rhiannon Mellis gene: CFAP53 was added gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781 Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen Review for gene: CFAP53 was set to GREEN Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes). This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green) Sources: Literature, Expert Review |
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Fetal anomalies v1.73 | ACVR2B |
Rhiannon Mellis gene: ACVR2B was added gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489 Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia Review for gene: ACVR2B was set to GREEN Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489 Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes). This gene is included in our local heterotaxy panel (NETRGL). Sources: Expert Review, Literature |
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Fetal anomalies v1.73 | COL3A1 |
Rhiannon Mellis gene: COL3A1 was added gene: COL3A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459 Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496 Penetrance for gene: COL3A1 were set to Incomplete Review for gene: COL3A1 was set to GREEN Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI. A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features. Sources: Literature |
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Fetal anomalies v1.73 | SHROOM4 |
Suzanne Drury gene: SHROOM4 was added gene: SHROOM4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 32565546 Phenotypes for gene: SHROOM4 were set to HP:0001274 Review for gene: SHROOM4 was set to AMBER Added comment: Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6] Sources: Literature |
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Fetal anomalies v1.73 | NUP88 |
Julia Baptista gene: NUP88 was added gene: NUP88 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to PMID: 30543681 Phenotypes for gene: NUP88 were set to fetal akinesia Review for gene: NUP88 was set to RED Added comment: Bonnin et al reported biallelic variants in two unrelated families. A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described. Sources: Literature |
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Fetal anomalies v1.70 | ITGA8 | Rebecca Foulger Publications for gene: ITGA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.69 | REN | Rebecca Foulger Publications for gene: REN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.68 | ACTG2 | Rebecca Foulger Publications for gene: ACTG2 were set to 25998219; 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.66 | GREB1L | Rebecca Foulger Publications for gene: GREB1L were set to 29261186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.65 | GREB1L | Rebecca Foulger Added comment: Comment on list classification: Added to panel and set rating to Amber. Not yet associated with a disorder in Gene2Phenotype, but 2 fetal cases presented in PMID:29261186. Renal agenesis phenotype is relevant to the panel. Therefore Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.64 | GREB1L |
Rebecca Foulger gene: GREB1L was added gene: GREB1L was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GREB1L were set to 29261186 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X). Sources: Literature |
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Fetal anomalies v1.61 | ACTG2 | Rebecca Foulger Publications for gene: ACTG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.60 | ACE | Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.60 | ACE | Rebecca Foulger Publications for gene: ACE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.55 | PSAT1 | Rebecca Foulger Publications for gene: PSAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.50 | ALG9 | Rebecca Foulger Publications for gene: ALG9 were set to 26453364; 31420886 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.48 | ALG9 | Rebecca Foulger Publications for gene: ALG9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.43 | SMG9 | Rebecca Foulger Publications for gene: SMG9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.41 | SMG9 | Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.39 | TUBA8 | Rebecca Foulger Publications for gene: TUBA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.32 | FGF20 |
Rebecca Foulger gene: FGF20 was added gene: FGF20 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282; 23112089 Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721 Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089). Sources: Literature |
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Fetal anomalies v1.30 | EXOC3L2 | Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448; 28749478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.29 | EXOC3L2 | Rebecca Foulger Publications for gene: EXOC3L2 were set to 30327448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.28 | EXOC3L2 |
Rebecca Foulger gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound. Sources: Literature |
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Fetal anomalies v1.27 | DHCR7 | Rebecca Foulger Publications for gene: DHCR7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.23 | POLE | Rebecca Foulger Publications for gene: POLE were set to 23230001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.22 | POLE | Rebecca Foulger Phenotypes for gene: POLE were changed from IUGR; severe growth failure of prenatal onset to IUGR; severe growth failure of prenatal onset; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.20 | POLE |
Rebecca Foulger gene: POLE was added gene: POLE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset. Sources: Literature |
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Fetal anomalies v1.19 | MYL9 | Rebecca Foulger Publications for gene: MYL9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.16 | MYH11 | Rebecca Foulger Publications for gene: MYH11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.14 | MYH11 | Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.13 | MYLK | Rebecca Foulger Publications for gene: MYLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.10 | MYL9 |
Rebecca Foulger gene: MYL9 was added gene: MYL9 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYL9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYL9 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH). Sources: Expert list |
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Fetal anomalies v1.9 | LMOD1 |
Rebecca Foulger gene: LMOD1 was added gene: LMOD1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH). Sources: Expert list |
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Fetal anomalies v1.8 | MYH11 |
Rebecca Foulger gene: MYH11 was added gene: MYH11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH11 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) Added comment: Added to panel as suggested by Rhiannon Mellis (GOSH). Sources: Expert list |
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Fetal anomalies v1.7 | PAICS |
Zornitza Stark gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779 Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities Review for gene: PAICS was set to RED Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function. Sources: Literature |
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Fetal anomalies v1.5 | CEP55 | Rebecca Foulger Publications for gene: CEP55 were set to 28264986; 28295209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.4 | CEP55 |
Rebecca Foulger gene: CEP55 was added gene: CEP55 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28264986; 28295209 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel. Sources: Other |
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Fetal anomalies v1.0 | AHCY |
Zornitza Stark gene: AHCY was added gene: AHCY was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 30121674; 20852937 Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency Review for gene: AHCY was set to AMBER Added comment: Please note recent additional report of this condition presenting prenatally with hydrops. Sources: Expert list |
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Fetal anomalies v1.0 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations Review for gene: ATP1A2 was set to AMBER gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia. Sources: Expert list |
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Fetal anomalies v0.370 | BICD2 | Rebecca Foulger Publications for gene: BICD2 were set to 27751653; 29274205; 28635954 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.367 | BICD2 | Rebecca Foulger commented on gene: BICD2: OMIM Clinical Synopsis for MIM:618291 now mentions onset in Utero, including fractures in utero and decreased fetal movements, as noted by Rhiannon Mellis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.365 | BICD2 | Rebecca Foulger Publications for gene: BICD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.361 | KLF1 | Rebecca Foulger Publications for gene: KLF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.356 | FBN1 | Rebecca Foulger Publications for gene: FBN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.354 | ALG3 | Rebecca Foulger Publications for gene: ALG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.353 | SMN1 | Rebecca Foulger Publications for gene: SMN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.352 | SCO2 | Rebecca Foulger Publications for gene: SCO2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.349 | SIK3 |
Rebecca Foulger gene: SIK3 was added gene: SIK3 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIK3 were set to 30232230; 22318228 Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 Added comment: Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally. Sources: Other |
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Fetal anomalies v0.347 | GLA |
Rebecca Foulger gene: GLA was added gene: GLA was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: GLA 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: GLA were set to Fabry disease, 301500 Added comment: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH). Sources: Other |
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Fetal anomalies v0.346 | AMER1 | Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.345 | FAM58A | Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.343 | NMNAT2 | Rebecca Foulger Publications for gene: NMNAT2 were set to PMID: 31136762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.342 | ANAPC1 |
Rebecca Foulger gene: ANAPC1 was added gene: ANAPC1 was added to Fetal anomalies. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1 |
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Fetal anomalies v0.341 | NMNAT2 |
Michael Coleman gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Research Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to PMID: 31136762 Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta Penetrance for gene: NMNAT2 were set to Complete Review for gene: NMNAT2 was set to GREEN Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398) Sources: Research |
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Fetal anomalies v0.341 | GJB2 | Rebecca Foulger Publications for gene: GJB2 were set to 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.339 | SLC35A2 | Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.333 | VPS13B | Rebecca Foulger Publications for gene: VPS13B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.330 | PDHA1 | Rebecca Foulger Publications for gene: PDHA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.329 | SLC4A4 | Rebecca Foulger Publications for gene: SLC4A4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.327 | RAC1 | Rebecca Foulger Publications for gene: RAC1 were set to 30712878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.324 | TRPV6 |
Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188 Review for gene: TRPV6 was set to AMBER Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Sources: Literature |
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Fetal anomalies v0.321 | SETD5 | Anna de Burca Classified gene: SETD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.321 | SETD5 | Anna de Burca Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SBDS | Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | MANBA | Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GAA | Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SCO2 | Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | SETD5 | Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | GALC | Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | TUBB4A | Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | FH | Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | POLR3B | Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.310 | MYH10 |
Rebecca Foulger gene: MYH10 was added gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH10 were set to 30712878 Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies |
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Fetal anomalies v0.310 | NDUFAF5 |
Rebecca Foulger gene: NDUFAF5 was added gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238 |
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Fetal anomalies v0.310 | INTU |
Rebecca Foulger gene: INTU was added gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 28289185; 30266093; 29451301 Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 |
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Fetal anomalies v0.310 | FRMD4A |
Rebecca Foulger gene: FRMD4A was added gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071 Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 |
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Fetal anomalies v0.310 | EIF2B2 |
Rebecca Foulger gene: EIF2B2 was added gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B2 were set to 30266093; 28597716 Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 |
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Fetal anomalies v0.310 | DOK7 |
Rebecca Foulger gene: DOK7 was added gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 30266093 Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300 |
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Fetal anomalies v0.310 | BCL9L |
Rebecca Foulger gene: BCL9L was added gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCL9L were set to 23035047 Phenotypes for gene: BCL9L were set to Heterotaxy |
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Fetal anomalies v0.306 | NDP | Rebecca Foulger Publications for gene: NDP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.304 | IARS | Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.303 | IARS | Rebecca Foulger Publications for gene: IARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.302 | IARS | Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.301 | GBE1 | Rebecca Foulger Publications for gene: GBE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.297 | DOLK | Rebecca Foulger Publications for gene: DOLK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.296 | PDHB |
Anna de Burca gene: PDHB was added gene: PDHB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 26865159 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency Review for gene: PDHB was set to AMBER Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects. Sources: Literature |
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Fetal anomalies v0.295 | PDHA1 | Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.295 | KIAA1109 | Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398; 29290337 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.292 | KIAA1109 | Rebecca Foulger Publications for gene: KIAA1109 were set to 30485398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.290 | KIAA1109 | Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.289 | KIAA1109 | Rebecca Foulger Publications for gene: KIAA1109 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | MYRF | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.283 | MYRF | Rebecca Foulger Publications for gene: MYRF were set to 30532227; 30985895; 31069960; 30070761; 29446546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.280 | MYRF | Rebecca Foulger Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 ) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.276 | PKD1 | Rebecca Foulger commented on gene: PKD1: PMID:20558538 (Vujic et al., 2010) was added as a publication by Julia Baptista. The authors describe two pedigrees each with two patients with onset of polycystic kidney disease in-utero. Mutation analysis suggested that both families inherited, in trans, two incompletely penetrant PKD1 alleles, thus supporting autosomal recessive PKD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.274 | PKD1 | Rebecca Foulger Publications for gene: PKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.274 | PKD1 | Rebecca Foulger Publications for gene: PKD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.273 | MYRF |
Julia Baptista gene: MYRF was added gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 ) Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development Review for gene: MYRF was set to GREEN Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546) Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761). Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227). Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3. Sources: Expert Review, Literature |
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Fetal anomalies v0.272 | SOX9 | Rebecca Foulger Publications for gene: SOX9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.271 | L1CAM | Rebecca Foulger Publications for gene: L1CAM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.270 | PIK3R2 | Rebecca Foulger Publications for gene: PIK3R2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.269 | RIT1 | Rebecca Foulger Publications for gene: RIT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.268 | AMER1 | Rebecca Foulger Publications for gene: AMER1 were set to 8425981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.267 | AMER1 | Rebecca Foulger Publications for gene: AMER1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.266 | FANCB | Rebecca Foulger Publications for gene: FANCB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.265 | CYP11A1 | Rebecca Foulger Publications for gene: CYP11A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.264 | FLNA | Rebecca Foulger Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.263 | MRPS22 | Rebecca Foulger Publications for gene: MRPS22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.262 | FOXP3 | Rebecca Foulger Publications for gene: FOXP3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.261 | PIK3CA | Rebecca Foulger Publications for gene: PIK3CA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.260 | PTPN11 | Rebecca Foulger Publications for gene: PTPN11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.259 | FGFR2 | Rebecca Foulger Publications for gene: FGFR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.258 | RIPK4 | Rebecca Foulger Publications for gene: RIPK4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.257 | HRAS | Rebecca Foulger Publications for gene: HRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.256 | BBS4 | Rebecca Foulger Publications for gene: BBS4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.255 | PIEZO1 | Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996; 23695678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.254 | GJB2 | Rebecca Foulger Publications for gene: GJB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.253 | BRAT1 | Rebecca Foulger Publications for gene: BRAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.252 | ATP7A | Rebecca Foulger Publications for gene: ATP7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.251 | HEXA | Rebecca Foulger Publications for gene: HEXA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.246 | CNOT1 |
Rebecca Foulger gene: CNOT1 was added gene: CNOT1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CNOT1 were set to 31006510; 31006513 Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments |
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Fetal anomalies v0.245 | HNRNPK | Rebecca Foulger Publications for gene: HNRNPK were set to 29904177; 30998304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.243 | HNRNPK |
Rebecca Foulger gene: HNRNPK was added gene: HNRNPK was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPK were set to 29904177; 30998304 Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome |
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Fetal anomalies v0.240 | DDX3X | Rebecca Foulger Publications for gene: DDX3X were set to 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.239 | GK | Rebecca Foulger Publications for gene: GK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.238 | TUBB2A | Rebecca Foulger Publications for gene: TUBB2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.237 | TUBB2A | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.229 | SETD5 |
Rebecca Foulger Source Expert Review Red was added to SETD5. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Fetal anomalies v0.228 | SETD5 | Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SETD5 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.227 | PROK2 | Rebecca Foulger Publications for gene: PROK2 were set to 17054399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.225 | SUZ12 | Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | RAB39B | Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | POLR3A | Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.222 | ABCD1 | Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.220 | ASCC1 | Rebecca Foulger Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.218 | MYT1 | Rebecca Foulger Publications for gene: MYT1 were set to 28612832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.217 | TBL1XR1 | Rebecca Foulger Publications for gene: TBL1XR1 were set to 28687524; 30365874; 26769062; 25425123; 23160955 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.212 | POMK | Rebecca Foulger Publications for gene: POMK were set to 23519211; 24925318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.211 | POMK | Rebecca Foulger Publications for gene: POMK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.209 | ZNF423 | Rebecca Foulger Publications for gene: ZNF423 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.208 | ZNF423 | Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.206 | ARL13B | Rebecca Foulger Publications for gene: ARL13B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.204 | ADAMTS17 | Rebecca Foulger Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.202 | ADAMTS17 | Rebecca Foulger Publications for gene: ADAMTS17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.200 | COG4 | Rebecca Foulger Publications for gene: COG4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.199 | TTN |
Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance: In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound. In PMID:28040389 a fetal ultrasound reported Clubfoot. In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported. |
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Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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Fetal anomalies v0.198 | TTN |
Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review |
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Fetal anomalies v0.196 | SPTBN2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.195 | SIM1 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.194 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.192 | FBXO11 |
Rebecca Foulger gene: FBXO11 was added gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029 Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder |
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Fetal anomalies v0.192 | CACNA1E |
Rebecca Foulger gene: CACNA1E was added gene: CACNA1E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30849329 Phenotypes for gene: CACNA1E were set to Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias; Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments |
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Fetal anomalies v0.192 | TOP3A |
Rebecca Foulger gene: TOP3A was added gene: TOP3A was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOP3A were set to 30193137 Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder |
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Fetal anomalies v0.192 | SUZ12 |
Rebecca Foulger gene: SUZ12 was added gene: SUZ12 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 30019515; 28229514 Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome |
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Fetal anomalies v0.192 | SPTBN2 |
Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 29196973; 28636205 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 |
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Fetal anomalies v0.192 | SIM1 |
Rebecca Foulger gene: SIM1 was added gene: SIM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SIM1 was set to Publications for gene: SIM1 were set to 28472148; 23778136; 23778139 Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features |
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Fetal anomalies v0.192 | SEPSECS |
Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D |
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Fetal anomalies v0.192 | DNAH9 |
Rebecca Foulger gene: DNAH9 was added gene: DNAH9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH9 were set to 30471717; 30471718 Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus |
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Fetal anomalies v0.192 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.190 | VPS53 | Rebecca Foulger Publications for gene: VPS53 were set to 24577744; 12920088 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.188 | PCGF2 | Rebecca Foulger Publications for gene: PCGF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.182 | RAC1 | Rebecca Foulger Publications for gene: RAC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.181 | SCN2A | Rebecca Foulger Publications for gene: SCN2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.180 | HCCS | Rebecca Foulger Publications for gene: HCCS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.179 | DDX3X | Rebecca Foulger Publications for gene: DDX3X were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.178 | ACTA1 | Rebecca Foulger Publications for gene: ACTA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.177 | GBA | Rebecca Foulger Publications for gene: GBA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.176 | TCTN2 | Rebecca Foulger Publications for gene: TCTN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.175 | COQ9 | Rebecca Foulger Publications for gene: COQ9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.174 | BCS1L | Rebecca Foulger Publications for gene: BCS1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.173 | PROK2 | Rebecca Foulger Publications for gene: PROK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.172 | PACS1 | Rebecca Foulger Publications for gene: PACS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.171 | ROBO1 | Rebecca Foulger Publications for gene: ROBO1 were set to 28592524; 28485101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.170 | MECP2 | Rebecca Foulger Publications for gene: MECP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.169 | KCNQ2 | Rebecca Foulger Publications for gene: KCNQ2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.168 | HYDIN | Rebecca Foulger Publications for gene: HYDIN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | AUH | Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TCN2 | Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.166 | TRAPPC2 | Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.164 | WNT3 | Rebecca Foulger Publications for gene: WNT3 were set to 14872406 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.163 | TRIM32 | Rebecca Foulger Publications for gene: TRIM32 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.162 | SLX4 | Rebecca Foulger Publications for gene: SLX4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZNF711 | Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | ZFYVE26 | Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SPEG | Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.161 | SETBP1 | Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.160 | WNT3 | Rebecca Foulger Publications for gene: WNT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.159 | TBX22 | Rebecca Foulger Publications for gene: TBX22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | RNASET2 | Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.146 | IKBKG | Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to X-linked dominant after clinical review so that both X-linked dominant and X-linked recessive inheritance would be picked up. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.146 | IKBKG | Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MGAT2 | Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | MFSD8 | Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | GJC2 | Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | FHL1 | Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | DMPK | Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CYC1 | Rebecca Foulger edited their review of gene: CYC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset of episodic lactic acidosis etc is in childhood. Action taken: Demoted CYC1 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CTSD | Rebecca Foulger edited their review of gene: CTSD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can have very early onset in infancy (some reported patients died within days of birth).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | COMP | Rebecca Foulger edited their review of gene: COMP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted COMP gene rating from Green to Red. Additional notes from clinical review: Onset is later.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN8 | Rebecca Foulger edited their review of gene: CLN8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN8 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN5 | Rebecca Foulger edited their review of gene: CLN5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset. Action taken: Demoted CLN5 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CLN3 | Rebecca Foulger edited their review of gene: CLN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Juvenile onset. Action taken: Demoted CLN3 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CASK | Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | CAD | Rebecca Foulger edited their review of gene: CAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Onset is in infancy and progressive, so wouldn't see pre-natally. Action taken: Demoted CAD gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | C2orf71 | Rebecca Foulger edited their review of gene: C2orf71: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Retinitis pigmentosa has adult onset with two patients reported with an earlier onset. Action taken: Demoted C2orf71 (PCARE) gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALS2 | Rebecca Foulger edited their review of gene: ALS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: The age of onset is 3-20 years. Action taken: Demoted ALS2 gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.134 | ALDH7A1 | Rebecca Foulger edited their review of gene: ALDH7A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Phenotype has prenatal or neonatal onset and includes in utero convulsions. Treatable.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.132 | ASCC1 |
Julia Baptista gene: ASCC1 was added gene: ASCC1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478 Phenotypes for gene: ASCC1 were set to spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures Review for gene: ASCC1 was set to GREEN gene: ASCC1 was marked as current diagnostic Added comment: Homozygous frameshift variant reported in two siblings from a Turkish family and one child from a Portuguese family affected with fetal akinesia, arthrogryposis, hypotonia, muscle weakness and congenital bone fractures. One further family reported with fetal akinesia and a homozygous splicing variant. Sources: Literature |
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Fetal anomalies v0.128 | C4orf26 | Rebecca Foulger Publications for gene: C4orf26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.126 | FARS2 |
Rebecca Foulger gene: FARS2 was added gene: FARS2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FARS2 was set to Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011 Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency |
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Fetal anomalies v0.126 | KCNJ8 |
Rebecca Foulger gene: KCNJ8 was added gene: KCNJ8 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207 Phenotypes for gene: KCNJ8 were set to Cantu syndrome Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments |
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Fetal anomalies v0.123 | TALDO1 |
Rebecca Foulger gene: TALDO1 was added gene: TALDO1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TALDO1 were set to Fetal hydrops; Transaldolase deficiency, 606003 |
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Fetal anomalies v0.123 | SOS2 |
Rebecca Foulger gene: SOS2 was added gene: SOS2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOS2 were set to Fetal hydrops; Noonan syndrome 9, 616559 |
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Fetal anomalies v0.123 | LZTR1 |
Rebecca Foulger gene: LZTR1 was added gene: LZTR1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Fetal hydrops; Noonan syndrome 10, 616564 |
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Fetal anomalies v0.123 | LIPA |
Rebecca Foulger gene: LIPA was added gene: LIPA was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 12666227 Phenotypes for gene: LIPA were set to Fetal hydrops; Wolman disease, 278000; Lysosomal Acid Lipase Deficiency |
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Fetal anomalies v0.123 | HBA2 |
Rebecca Foulger gene: HBA2 was added gene: HBA2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Fetal hydrops; Thalassemia, alpha-, 604131 |
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Fetal anomalies v0.123 | HBA1 |
Rebecca Foulger gene: HBA1 was added gene: HBA1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Fetal hydrops; Thalassemia, alpha-, 604131 |
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Fetal anomalies v0.123 | SGPL1 |
Rebecca Foulger gene: SGPL1 was added gene: SGPL1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGPL1 were set to Fetal hydrops; Nephrotic syndrome type 14, 617575 |
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Fetal anomalies v0.120 | UFC1 | Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.119 | TBL1XR1 | Rebecca Foulger Publications for gene: TBL1XR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.118 | SAMD9 | Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance missing in DD-G2P at time SAMD9 was added to the panel. Set the MOI to monoallelic to match OMIM inheritance for MIRAGE syndrome (MIM:617053). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.115 | SAMD9 |
Rebecca Foulger gene: SAMD9 was added gene: SAMD9 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SAMD9 was set to Publications for gene: SAMD9 were set to 27182967; 28346228 Phenotypes for gene: SAMD9 were set to MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy |
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Fetal anomalies v0.115 | SLC10A7 |
Rebecca Foulger gene: SLC10A7 was added gene: SLC10A7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715; 29878199 Phenotypes for gene: SLC10A7 were set to Chondrodysplasia with multiple dislocations and amelogenesis imperfecta |
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Fetal anomalies v0.115 | KMT2E |
Rebecca Foulger gene: KMT2E was added gene: KMT2E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.115 | TRAF7 |
Rebecca Foulger gene: TRAF7 was added gene: TRAF7 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRAF7 were set to 29961569 Phenotypes for gene: TRAF7 were set to Developmental Delay, Congenital Anomalies, and Dysmorphic Features Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments |
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Fetal anomalies v0.115 | SLC52A2 |
Rebecca Foulger gene: SLC52A2 was added gene: SLC52A2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC52A2 were set to 24253200; 22740598 Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2 |
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Fetal anomalies v0.115 | STAG2 |
Rebecca Foulger gene: STAG2 was added gene: STAG2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STAG2 were set to 30158690; 29263825; 28296084 Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies |
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Fetal anomalies v0.115 | UFC1 |
Rebecca Foulger gene: UFC1 was added gene: UFC1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: UFC1 was set to Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly |
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Fetal anomalies v0.115 | UFM1 |
Rebecca Foulger gene: UFM1 was added gene: UFM1 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly, |
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Fetal anomalies v0.114 | AAAS | Rebecca Foulger commented on gene: AAAS: AAAS Gene and phenotype discussed at meeting with Lynn Chitty, Richard Scott and Anna De Burca (meeting at Great Ormond Street, February 27th 2019). Although microcephaly may or may not show in a prenatal setting, the advice is to leave AAAS on the fetal panel as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | CLN6 | Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.110 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.106 | TWIST2 | Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'both monoallelic and biallelic' to 'monoallelic'. Inheritance is recessive for Focal facial dermal dysplasia 3, Setleis type (MIM:227260) which Deirdre Cilliers notes would not present pre-natally. Inheritance is autosomal dominant for Ablepharon-macrostomia syndrome (MIM:200110) and Barber-Say syndrome (MIM:209885). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.105 | TWIST2 | Rebecca Foulger Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME to ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.104 | TWIST2 | Rebecca Foulger Publications for gene: TWIST2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.103 | TWIST2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following comment from Deirdre Cilliers (OUH). Originally rated Amber based on multiple ratings for different disorders, but as Deirdre notes: Setleis would not present prenatally. Sufficient cases (>3) of Barber-Say and ablepharon-macrostomia syndrome to support causation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.102 | TWIST2 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to 'Other' based on comment by Deirdre Cilliers: gain of function for Barber-Say and ablepharon-macrostomia syndrome, which are relevant to this fetal panel. As noted in original upload, DD-G2P record a 'loss of function' mechanism for SETLEIS SYNDROME, but this wouldn't present prenatally (see comment from Deirdre Cilliers). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.101 | TWIST2 | Rebecca Foulger commented on gene: TWIST2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TWIST2 should be on the Fetal anomalies panel]. Very particular mutations which improve the chance of variant interpretation - gain of function for Barber-Say and ablepharon-macrostomia syndrome. May present with ambiguous genitalia (microarray may identify a male karyotype when thought that female genitalia were seen on scan) or talipes which may be identified, but other features not clear on scan (loss of lateral lower lip). Setleis type of focal facial dermal dysplasia would not present prenatally, although there is a small chance of an incidental finding if this gene is on the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.99 | TBC1D20 | Rebecca Foulger Publications for gene: TBC1D20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.97 | SUFU | Rebecca Foulger Publications for gene: SUFU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.96 | SUFU | Rebecca Foulger commented on gene: SUFU: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Yes [SUFU should be on the Fetal anomalies panel]. Joubert syndrome would present prenatally with the cerebellar vermis hypoplasia and/or polydactyly. If the test incidentally identifies the predisposition to cancer, screening would be offered early in childhood in any case, although this would be difficult news to hear in the prenatal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.95 | MITF | Rebecca Foulger Publications for gene: MITF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.91 | MAGEL2 | Rebecca Foulger Publications for gene: MAGEL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.88 | MAFB | Rebecca Foulger commented on gene: MAFB: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): No [Would not include MAFB on the Fetal anomalies panel]: Not usually manifesting in the prenatal setting. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.88 | KMT2C | Rebecca Foulger Publications for gene: KMT2C were set to 29276005 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.85 | EMG1 | Rebecca Foulger Publications for gene: EMG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.76 | IFIH1 | Rebecca Foulger Publications for gene: IFIH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.74 | ARCN1 | Rebecca Foulger Publications for gene: ARCN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.72 | TPM2 | Rebecca Foulger Publications for gene: TPM2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.70 | CHRNA1 | Rebecca Foulger Publications for gene: CHRNA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.68 | CFC1 | Rebecca Foulger Publications for gene: CFC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.52 | ATAD3A | Rebecca Foulger Publications for gene: ATAD3A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.46 | BGN | Rebecca Foulger Publications for gene: BGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.45 | ITPR1 | Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following email correspondance from Anna de Burca who notes that SCA15 is an adult onset condition and that ITPR1 is also associated with Gillespie syndrome which might possibly present prenatally with cerebellar hypoplasia but on balance it would be better to exclude. Therefore although there is sufficient evidence (>3 cases) for association with Gillespie syndrome, the phenotype is not appropriate for this Fetal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.41 | PIEZO1 | Rebecca Foulger Publications for gene: PIEZO1 were set to 26333996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.27 | RBPJ | Rebecca Foulger Publications for gene: RBPJ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | YWHAG | Rebecca Foulger commented on gene: YWHAG: DDG2P rating in original PAGE list: Probable for Early-Onset Epilepsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | UBTF | Rebecca Foulger commented on gene: UBTF: DDG2P rating in original PAGE list: Probable for Childhood-Onset Neurodegeneration | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SLC25A4 | Rebecca Foulger commented on gene: SLC25A4: DDG2P rating in original PAGE list: Probable for Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SETD5 | Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SETD2 | Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SETD1A | Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SETBP1 | Rebecca Foulger commented on gene: SETBP1: DDG2P rating in original PAGE list: Confirmed for SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME and Confirmed for DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | SET | Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | RNASET2 | Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PDE10A | Rebecca Foulger commented on gene: PDE10A: DDG2P rating in original PAGE list: Probable for Childhood-Onset Chorea with Bilateral Striatal Lesions | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | MAF | Rebecca Foulger commented on gene: MAF: DDG2P rating in original PAGE list: Confirmed for CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES, Confirmed for CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED and Confirmed for CATARACT CONGENITAL CERULEAN TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | LIAS | Rebecca Foulger commented on gene: LIAS: DDG2P rating in original PAGE list: Probable for Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | KLHL7 | Rebecca Foulger commented on gene: KLHL7: DDG2P rating in original PAGE list: Probable for Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | HNF4A | Rebecca Foulger commented on gene: HNF4A: DDG2P rating in original PAGE list: Confirmed for HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 and Confirmed for ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | C1QBP | Rebecca Foulger commented on gene: C1QBP: DDG2P rating in original PAGE list: Probable for Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | CLN6 | Rebecca Foulger commented on gene: CLN6: Rating in original PAGE file: 'both DD and IF' for both CEROID LIPOFUSCINOSIS, NEURONAL, 6 and CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.7 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.6 | ATP1A3 | Rebecca Foulger commented on gene: ATP1A3: Rating in original PAGE file: 'Both DD and IF' for both RAPID-ONSET DYSTONIA-PARKINSONISM and ALTERNATING HEMIPLEGIA OF CHILDHOOD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.3 | SETBP1 | Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | CHM |
Rebecca Foulger gene: CHM was added gene: CHM was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: CHM was set to |
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Fetal anomalies v0.1 | NLGN3 |
Rebecca Foulger gene: NLGN3 was added gene: NLGN3 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: NLGN3 was set to |
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Fetal anomalies v0.1 | PNPLA2 |
Rebecca Foulger gene: PNPLA2 was added gene: PNPLA2 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: PNPLA2 was set to |
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Fetal anomalies v0.1 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: GJB3 was set to |
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Fetal anomalies v0.1 | ROBO3 |
Rebecca Foulger gene: ROBO3 was added gene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: ROBO3 was set to |
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Fetal anomalies v0.1 | NRXN1 |
Rebecca Foulger gene: NRXN1 was added gene: NRXN1 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: NRXN1 was set to |
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Fetal anomalies v0.1 | MYO15A |
Rebecca Foulger gene: MYO15A was added gene: MYO15A was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: MYO15A was set to |
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Fetal anomalies v0.1 | CDH23 |
Rebecca Foulger gene: CDH23 was added gene: CDH23 was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: CDH23 was set to |
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Fetal anomalies v0.1 | DMD |
Rebecca Foulger gene: DMD was added gene: DMD was added to Fetal anomalies. Sources: Expert Review Removed Mode of inheritance for gene: DMD was set to |
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Fetal anomalies v0.1 | ZSWIM6 |
Rebecca Foulger gene: ZSWIM6 was added gene: ZSWIM6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS |
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Fetal anomalies v0.1 | ZNF750 |
Rebecca Foulger gene: ZNF750 was added gene: ZNF750 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS |
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Fetal anomalies v0.1 | ZNF711 |
Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED |
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Fetal anomalies v0.1 | ZNF462 |
Rebecca Foulger gene: ZNF462 was added gene: ZNF462 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay |
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Fetal anomalies v0.1 | ZNF423 |
Rebecca Foulger gene: ZNF423 was added gene: ZNF423 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844 |
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Fetal anomalies v0.1 | ZMYND11 |
Rebecca Foulger gene: ZMYND11 was added gene: ZMYND11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 |
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Fetal anomalies v0.1 | ZMPSTE24 |
Rebecca Foulger gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED |
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Fetal anomalies v0.1 | ZIC3 |
Rebecca Foulger gene: ZIC3 was added gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS |
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Fetal anomalies v0.1 | ZIC2 |
Rebecca Foulger gene: ZIC2 was added gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY |
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Fetal anomalies v0.1 | ZIC1 |
Rebecca Foulger gene: ZIC1 was added gene: ZIC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 |
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Fetal anomalies v0.1 | ZFYVE26 |
Rebecca Foulger gene: ZFYVE26 was added gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 |
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Fetal anomalies v0.1 | ZFP57 |
Rebecca Foulger gene: ZFP57 was added gene: ZFP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL |
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Fetal anomalies v0.1 | ZEB2 |
Rebecca Foulger gene: ZEB2 was added gene: ZEB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME |
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Fetal anomalies v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED |
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Fetal anomalies v0.1 | ZC4H2 |
Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | ZBTB20 |
Rebecca Foulger gene: ZBTB20 was added gene: ZBTB20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME |
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Fetal anomalies v0.1 | ZBTB18 |
Rebecca Foulger gene: ZBTB18 was added gene: ZBTB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome |
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Fetal anomalies v0.1 | YY1 |
Rebecca Foulger gene: YY1 was added gene: YY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | YWHAG |
Rebecca Foulger gene: YWHAG was added gene: YWHAG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy |
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Fetal anomalies v0.1 | YAP1 |
Rebecca Foulger gene: YAP1 was added gene: YAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION |
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Fetal anomalies v0.1 | XYLT2 |
Rebecca Foulger gene: XYLT2 was added gene: XYLT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME |
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Fetal anomalies v0.1 | XYLT1 |
Rebecca Foulger gene: XYLT1 was added gene: XYLT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 |
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Fetal anomalies v0.1 | XRCC4 |
Rebecca Foulger gene: XRCC4 was added gene: XRCC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM |
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Fetal anomalies v0.1 | XPC |
Rebecca Foulger gene: XPC was added gene: XPC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C |
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Fetal anomalies v0.1 | XPA |
Rebecca Foulger gene: XPA was added gene: XPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A |
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Fetal anomalies v0.1 | WWOX |
Rebecca Foulger gene: WWOX was added gene: WWOX was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 |
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Fetal anomalies v0.1 | WT1 |
Rebecca Foulger gene: WT1 was added gene: WT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME |
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Fetal anomalies v0.1 | WRAP53 |
Rebecca Foulger gene: WRAP53 was added gene: WRAP53 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 |
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Fetal anomalies v0.1 | WNT7A |
Rebecca Foulger gene: WNT7A was added gene: WNT7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME |
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Fetal anomalies v0.1 | WNT5A |
Rebecca Foulger gene: WNT5A was added gene: WNT5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT |
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Fetal anomalies v0.1 | WNT4 |
Rebecca Foulger gene: WNT4 was added gene: WNT4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WNT4 were set to SERKAL SYNDROME |
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Fetal anomalies v0.1 | WNT3 |
Rebecca Foulger gene: WNT3 was added gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME |
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Fetal anomalies v0.1 | WNT10B |
Rebecca Foulger gene: WNT10B was added gene: WNT10B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6 |
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Fetal anomalies v0.1 | WNT1 |
Rebecca Foulger gene: WNT1 was added gene: WNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA |
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Fetal anomalies v0.1 | WDR73 |
Rebecca Foulger gene: WDR73 was added gene: WDR73 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME |
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Fetal anomalies v0.1 | WDR62 |
Rebecca Foulger gene: WDR62 was added gene: WDR62 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION |
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Fetal anomalies v0.1 | WDR60 |
Rebecca Foulger gene: WDR60 was added gene: WDR60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES |
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Fetal anomalies v0.1 | WDR45 |
Rebecca Foulger gene: WDR45 was added gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR45 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: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
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Fetal anomalies v0.1 | WDR35 |
Rebecca Foulger gene: WDR35 was added gene: WDR35 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2 |
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Fetal anomalies v0.1 | WDR34 |
Rebecca Foulger gene: WDR34 was added gene: WDR34 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III |
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Fetal anomalies v0.1 | WDR26 |
Rebecca Foulger gene: WDR26 was added gene: WDR26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features |
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Fetal anomalies v0.1 | WDR19 |
Rebecca Foulger gene: WDR19 was added gene: WDR19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4 |
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Fetal anomalies v0.1 | WDR11 |
Rebecca Foulger gene: WDR11 was added gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME |
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Fetal anomalies v0.1 | WDPCP |
Rebecca Foulger gene: WDPCP was added gene: WDPCP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 |
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Fetal anomalies v0.1 | WASHC5 |
Rebecca Foulger gene: WASHC5 was added gene: WASHC5 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant 603563; Ritscher-Schinzel syndrome 1 220210 |
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Fetal anomalies v0.1 | WAC |
Rebecca Foulger gene: WAC was added gene: WAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | VSX2 |
Rebecca Foulger gene: VSX2 was added gene: VSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES |
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Fetal anomalies v0.1 | VRK1 |
Rebecca Foulger gene: VRK1 was added gene: VRK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 |
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Fetal anomalies v0.1 | VPS53 |
Rebecca Foulger gene: VPS53 was added gene: VPS53 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS53 were set to 24577744; 12920088 Phenotypes for gene: VPS53 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 |
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Fetal anomalies v0.1 | VPS33B |
Rebecca Foulger gene: VPS33B was added gene: VPS33B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 |
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Fetal anomalies v0.1 | VPS13B |
Rebecca Foulger gene: VPS13B was added gene: VPS13B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13B were set to COHEN SYNDROME |
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Fetal anomalies v0.1 | VLDLR |
Rebecca Foulger gene: VLDLR was added gene: VLDLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | VIPAS39 |
Rebecca Foulger gene: VIPAS39 was added gene: VIPAS39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 |
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Fetal anomalies v0.1 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A |
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Fetal anomalies v0.1 | UVSSA |
Rebecca Foulger gene: UVSSA was added gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME |
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Fetal anomalies v0.1 | USP9X |
Rebecca Foulger gene: USP9X was added gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 |
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Fetal anomalies v0.1 | USP27X |
Rebecca Foulger gene: USP27X was added gene: USP27X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | USP18 |
Rebecca Foulger gene: USP18 was added gene: USP18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome |
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Fetal anomalies v0.1 | USB1 |
Rebecca Foulger gene: USB1 was added gene: USB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia |
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Fetal anomalies v0.1 | UROS |
Rebecca Foulger gene: UROS was added gene: UROS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA |
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Fetal anomalies v0.1 | UROC1 |
Rebecca Foulger gene: UROC1 was added gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY |
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Fetal anomalies v0.1 | UQCRQ |
Rebecca Foulger gene: UQCRQ was added gene: UQCRQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED |
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Fetal anomalies v0.1 | UQCRB |
Rebecca Foulger gene: UQCRB was added gene: UQCRB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED |
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Fetal anomalies v0.1 | UPF3B |
Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 |
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Fetal anomalies v0.1 | UNC80 |
Rebecca Foulger gene: UNC80 was added gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability |
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Fetal anomalies v0.1 | UMPS |
Rebecca Foulger gene: UMPS was added gene: UMPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1 |
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Fetal anomalies v0.1 | UGT1A1 |
Rebecca Foulger gene: UGT1A1 was added gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I |
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Fetal anomalies v0.1 | UBTF |
Rebecca Foulger gene: UBTF was added gene: UBTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration |
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Fetal anomalies v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME |
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Fetal anomalies v0.1 | UBE3B |
Rebecca Foulger gene: UBE3B was added gene: UBE3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION |
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Fetal anomalies v0.1 | UBE3A |
Rebecca Foulger gene: UBE3A was added gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME |
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Fetal anomalies v0.1 | UBE2T |
Rebecca Foulger gene: UBE2T was added gene: UBE2T was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T |
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Fetal anomalies v0.1 | UBE2A |
Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION |
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Fetal anomalies v0.1 | UBA5 |
Rebecca Foulger gene: UBA5 was added gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy |
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Fetal anomalies v0.1 | UBA1 |
Rebecca Foulger gene: UBA1 was added gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830 |
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Fetal anomalies v0.1 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 |
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Fetal anomalies v0.1 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 |
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Fetal anomalies v0.1 | TXNL4A |
Rebecca Foulger gene: TXNL4A was added gene: TXNL4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME |
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Fetal anomalies v0.1 | TWIST2 | Rebecca Foulger Added phenotypes SETLEIS SYNDROME for gene: TWIST2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TWIST2 |
Rebecca Foulger gene: TWIST2 was added gene: TWIST2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME |
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Fetal anomalies v0.1 | TWIST1 |
Rebecca Foulger gene: TWIST1 was added gene: TWIST1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME |
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Fetal anomalies v0.1 | TUSC3 |
Rebecca Foulger gene: TUSC3 was added gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 |
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Fetal anomalies v0.1 | TUFM |
Rebecca Foulger gene: TUFM was added gene: TUFM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
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Fetal anomalies v0.1 | TUBGCP6 |
Rebecca Foulger gene: TUBGCP6 was added gene: TUBGCP6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION |
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Fetal anomalies v0.1 | TUBGCP4 |
Rebecca Foulger gene: TUBGCP4 was added gene: TUBGCP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. |
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Fetal anomalies v0.1 | TUBG1 |
Rebecca Foulger gene: TUBG1 was added gene: TUBG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly |
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Fetal anomalies v0.1 | TUBB4A |
Rebecca Foulger gene: TUBB4A was added gene: TUBB4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM |
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Fetal anomalies v0.1 | TUBB3 |
Rebecca Foulger gene: TUBB3 was added gene: TUBB3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES |
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Fetal anomalies v0.1 | TUBB2B |
Rebecca Foulger gene: TUBB2B was added gene: TUBB2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC |
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Fetal anomalies v0.1 | TUBB2A |
Rebecca Foulger gene: TUBB2A was added gene: TUBB2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 |
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Fetal anomalies v0.1 | TUBB |
Rebecca Foulger gene: TUBB was added gene: TUBB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 |
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Fetal anomalies v0.1 | TUBA8 |
Rebecca Foulger gene: TUBA8 was added gene: TUBA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA |
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Fetal anomalies v0.1 | TUBA1A |
Rebecca Foulger gene: TUBA1A was added gene: TUBA1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | TTI2 |
Rebecca Foulger gene: TTI2 was added gene: TTI2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | TTC8 |
Rebecca Foulger gene: TTC8 was added gene: TTC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51 |
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Fetal anomalies v0.1 | TTC7A |
Rebecca Foulger gene: TTC7A was added gene: TTC7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE |
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Fetal anomalies v0.1 | TTC37 |
Rebecca Foulger gene: TTC37 was added gene: TTC37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME |
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Fetal anomalies v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
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Fetal anomalies v0.1 | TTC21B |
Rebecca Foulger gene: TTC21B was added gene: TTC21B was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly 613819 |
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Fetal anomalies v0.1 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY |
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Fetal anomalies v0.1 | TSPAN7 |
Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 |
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Fetal anomalies v0.1 | TSHR |
Rebecca Foulger gene: TSHR was added gene: TSHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 |
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Fetal anomalies v0.1 | TSHB |
Rebecca Foulger gene: TSHB was added gene: TSHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 |
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Fetal anomalies v0.1 | TSEN54 |
Rebecca Foulger gene: TSEN54 was added gene: TSEN54 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN34 |
Rebecca Foulger gene: TSEN34 was added gene: TSEN34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN2 |
Rebecca Foulger gene: TSEN2 was added gene: TSEN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 |
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Fetal anomalies v0.1 | TSEN15 |
Rebecca Foulger gene: TSEN15 was added gene: TSEN15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly |
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Fetal anomalies v0.1 | TSC2 |
Rebecca Foulger gene: TSC2 was added gene: TSC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS |
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Fetal anomalies v0.1 | TSC1 |
Rebecca Foulger gene: TSC1 was added gene: TSC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1 |
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Fetal anomalies v0.1 | TRPV4 |
Rebecca Foulger gene: TRPV4 was added gene: TRPV4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE |
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Fetal anomalies v0.1 | TRPV3 |
Rebecca Foulger gene: TRPV3 was added gene: TRPV3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME |
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Fetal anomalies v0.1 | TRPS1 |
Rebecca Foulger gene: TRPS1 was added gene: TRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | TRPM1 |
Rebecca Foulger gene: TRPM1 was added gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C |
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Fetal anomalies v0.1 | TRMT10C |
Rebecca Foulger gene: TRMT10C was added gene: TRMT10C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies |
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Fetal anomalies v0.1 | TRIP4 |
Rebecca Foulger gene: TRIP4 was added gene: TRIP4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures |
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Fetal anomalies v0.1 | TRIP13 |
Rebecca Foulger gene: TRIP13 was added gene: TRIP13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour |
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Fetal anomalies v0.1 | TRIP12 |
Rebecca Foulger gene: TRIP12 was added gene: TRIP12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder |
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Fetal anomalies v0.1 | TRIP11 |
Rebecca Foulger gene: TRIP11 was added gene: TRIP11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A |
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Fetal anomalies v0.1 | TRIO |
Rebecca Foulger gene: TRIO was added gene: TRIO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | TRIM37 |
Rebecca Foulger gene: TRIM37 was added gene: TRIM37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to MULIBREY NANISM |
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Fetal anomalies v0.1 | TRIM32 |
Rebecca Foulger gene: TRIM32 was added gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 |
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Fetal anomalies v0.1 | TREX1 |
Rebecca Foulger gene: TREX1 was added gene: TREX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE |
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Fetal anomalies v0.1 | TRAPPC9 |
Rebecca Foulger gene: TRAPPC9 was added gene: TRAPPC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 |
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Fetal anomalies v0.1 | TRAPPC2 |
Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA |
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Fetal anomalies v0.1 | TRAPPC12 |
Rebecca Foulger gene: TRAPPC12 was added gene: TRAPPC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAPPC12 was set to Unknown Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction |
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Fetal anomalies v0.1 | TRAPPC11 |
Rebecca Foulger gene: TRAPPC11 was added gene: TRAPPC11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S |
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Fetal anomalies v0.1 | TRAIP |
Rebecca Foulger gene: TRAIP was added gene: TRAIP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM |
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Fetal anomalies v0.1 | TPP1 |
Rebecca Foulger gene: TPP1 was added gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 |
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Fetal anomalies v0.1 | TPM3 |
Rebecca Foulger gene: TPM3 was added gene: TPM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TPM3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TPM3 were set to Congenital fiber-type disproportion myopathy 255310 |
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Fetal anomalies v0.1 | TPM2 |
Rebecca Foulger gene: TPM2 was added gene: TPM2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1 |
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Fetal anomalies v0.1 | TP63 |
Rebecca Foulger gene: TP63 was added gene: TP63 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | TOE1 |
Rebecca Foulger gene: TOE1 was added gene: TOE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA |
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Fetal anomalies v0.1 | TNXB |
Rebecca Foulger gene: TNXB was added gene: TNXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency 606408 |
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Fetal anomalies v0.1 | TNNT1 |
Rebecca Foulger gene: TNNT1 was added gene: TNNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type 605355 |
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Fetal anomalies v0.1 | TNNI2 |
Rebecca Foulger gene: TNNI2 was added gene: TNNI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TNNI2 were set to Arthrogryposis multiplex congenita, distal, type 2B 601680 |
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Fetal anomalies v0.1 | TNFRSF13B |
Rebecca Foulger gene: TNFRSF13B was added gene: TNFRSF13B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 |
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Fetal anomalies v0.1 | TNFRSF11B |
Rebecca Foulger gene: TNFRSF11B was added gene: TNFRSF11B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNFRSF11B were set to Paget disease 239000 |
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Fetal anomalies v0.1 | TMTC3 |
Rebecca Foulger gene: TMTC3 was added gene: TMTC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly |
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Fetal anomalies v0.1 | TMPRSS6 |
Rebecca Foulger gene: TMPRSS6 was added gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA |
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Fetal anomalies v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 |
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Fetal anomalies v0.1 | TMEM67 |
Rebecca Foulger gene: TMEM67 was added gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH SYNDROM |
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Fetal anomalies v0.1 | TMEM260 |
Rebecca Foulger gene: TMEM260 was added gene: TMEM260 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome |
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Fetal anomalies v0.1 | TMEM237 |
Rebecca Foulger gene: TMEM237 was added gene: TMEM237 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14 |
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Fetal anomalies v0.1 | TMEM231 |
Rebecca Foulger gene: TMEM231 was added gene: TMEM231 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 614970 |
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Fetal anomalies v0.1 | TMEM216 |
Rebecca Foulger gene: TMEM216 was added gene: TMEM216 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 |
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Fetal anomalies v0.1 | TMEM165 |
Rebecca Foulger gene: TMEM165 was added gene: TMEM165 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK |
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Fetal anomalies v0.1 | TMEM138 |
Rebecca Foulger gene: TMEM138 was added gene: TMEM138 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 614465 |
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Fetal anomalies v0.1 | TMEM126B |
Rebecca Foulger gene: TMEM126B was added gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency |
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Fetal anomalies v0.1 | TMCO1 |
Rebecca Foulger gene: TMCO1 was added gene: TMCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | TKT |
Rebecca Foulger gene: TKT was added gene: TKT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects |
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Fetal anomalies v0.1 | TK2 |
Rebecca Foulger gene: TK2 was added gene: TK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM |
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Fetal anomalies v0.1 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE |
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Fetal anomalies v0.1 | TIMM8A |
Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME |
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Fetal anomalies v0.1 | THRA |
Rebecca Foulger gene: THRA was added gene: THRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 |
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Fetal anomalies v0.1 | THOC6 |
Rebecca Foulger gene: THOC6 was added gene: THOC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome |
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Fetal anomalies v0.1 | THOC2 |
Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 |
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Fetal anomalies v0.1 | THAP1 |
Rebecca Foulger gene: THAP1 was added gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION |
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Fetal anomalies v0.1 | TH |
Rebecca Foulger gene: TH was added gene: TH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA |
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Fetal anomalies v0.1 | TGM1 |
Rebecca Foulger gene: TGM1 was added gene: TGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 242300 |
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Fetal anomalies v0.1 | TGIF1 |
Rebecca Foulger gene: TGIF1 was added gene: TGIF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY |
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Fetal anomalies v0.1 | TGFBR2 |
Rebecca Foulger gene: TGFBR2 was added gene: TGFBR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME |
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Fetal anomalies v0.1 | TGFBR1 |
Rebecca Foulger gene: TGFBR1 was added gene: TGFBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A |
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Fetal anomalies v0.1 | TGFB3 |
Rebecca Foulger gene: TGFB3 was added gene: TGFB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME |
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Fetal anomalies v0.1 | TGFB2 |
Rebecca Foulger gene: TGFB2 was added gene: TGFB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 |
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Fetal anomalies v0.1 | TGFB1 |
Rebecca Foulger gene: TGFB1 was added gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE |
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Fetal anomalies v0.1 | TGDS |
Rebecca Foulger gene: TGDS was added gene: TGDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME |
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Fetal anomalies v0.1 | TFAP2B |
Rebecca Foulger gene: TFAP2B was added gene: TFAP2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2B were set to CHAR SYNDROME |
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Fetal anomalies v0.1 | TFAP2A |
Rebecca Foulger gene: TFAP2A was added gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME |
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Fetal anomalies v0.1 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4 |
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Fetal anomalies v0.1 | TELO2 |
Rebecca Foulger gene: TELO2 was added gene: TELO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder |
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Fetal anomalies v0.1 | TEK |
Rebecca Foulger gene: TEK was added gene: TEK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL |
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Fetal anomalies v0.1 | TECPR2 |
Rebecca Foulger gene: TECPR2 was added gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS |
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Fetal anomalies v0.1 | TCTN3 |
Rebecca Foulger gene: TCTN3 was added gene: TCTN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME |
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Fetal anomalies v0.1 | TCTN2 |
Rebecca Foulger gene: TCTN2 was added gene: TCTN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS |
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Fetal anomalies v0.1 | TCTN1 |
Rebecca Foulger gene: TCTN1 was added gene: TCTN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS |
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Fetal anomalies v0.1 | TCOF1 |
Rebecca Foulger gene: TCOF1 was added gene: TCOF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | TCN2 |
Rebecca Foulger gene: TCN2 was added gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency |
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Fetal anomalies v0.1 | TCIRG1 |
Rebecca Foulger gene: TCIRG1 was added gene: TCIRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant 259700 |
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Fetal anomalies v0.1 | TCF4 |
Rebecca Foulger gene: TCF4 was added gene: TCF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME |
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Fetal anomalies v0.1 | TCF20 |
Rebecca Foulger gene: TCF20 was added gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF20 were set to TCF20 syndrome |
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Fetal anomalies v0.1 | TCF12 |
Rebecca Foulger gene: TCF12 was added gene: TCF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS |
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Fetal anomalies v0.1 | TBXAS1 |
Rebecca Foulger gene: TBXAS1 was added gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME |
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Fetal anomalies v0.1 | TBX6 |
Rebecca Foulger gene: TBX6 was added gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600 |
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Fetal anomalies v0.1 | TBX5 |
Rebecca Foulger gene: TBX5 was added gene: TBX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME |
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Fetal anomalies v0.1 | TBX4 |
Rebecca Foulger gene: TBX4 was added gene: TBX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME |
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Fetal anomalies v0.1 | TBX3 |
Rebecca Foulger gene: TBX3 was added gene: TBX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME |
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Fetal anomalies v0.1 | TBX22 |
Rebecca Foulger gene: TBX22 was added gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED |
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Fetal anomalies v0.1 | TBX20 |
Rebecca Foulger gene: TBX20 was added gene: TBX20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4 |
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Fetal anomalies v0.1 | TBX18 |
Rebecca Foulger gene: TBX18 was added gene: TBX18 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 |
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Fetal anomalies v0.1 | TBX15 |
Rebecca Foulger gene: TBX15 was added gene: TBX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome |
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Fetal anomalies v0.1 | TBX1 |
Rebecca Foulger gene: TBX1 was added gene: TBX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME |
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Fetal anomalies v0.1 | TBR1 |
Rebecca Foulger gene: TBR1 was added gene: TBR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBR1 were set to AUTISM |
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Fetal anomalies v0.1 | TBL1XR1 |
Rebecca Foulger gene: TBL1XR1 was added gene: TBL1XR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBL1XR1 were set to AUTISM |
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Fetal anomalies v0.1 | TBCK |
Rebecca Foulger gene: TBCK was added gene: TBCK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy |
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Fetal anomalies v0.1 | TBCE | Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | TBCE |
Rebecca Foulger gene: TBCE was added gene: TBCE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | TBCD |
Rebecca Foulger gene: TBCD was added gene: TBCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy |
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Fetal anomalies v0.1 | TBC1D24 |
Rebecca Foulger gene: TBC1D24 was added gene: TBC1D24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS |
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Fetal anomalies v0.1 | TBC1D23 |
Rebecca Foulger gene: TBC1D23 was added gene: TBC1D23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia |
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Fetal anomalies v0.1 | TBC1D20 |
Rebecca Foulger gene: TBC1D20 was added gene: TBC1D20 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4 |
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Fetal anomalies v0.1 | TAZ |
Rebecca Foulger gene: TAZ was added gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to BARTH SYNDROME |
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Fetal anomalies v0.1 | TAT |
Rebecca Foulger gene: TAT was added gene: TAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 |
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Fetal anomalies v0.1 | TAPT1 |
Rebecca Foulger gene: TAPT1 was added gene: TAPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA |
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Fetal anomalies v0.1 | TANGO2 |
Rebecca Foulger gene: TANGO2 was added gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy |
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Fetal anomalies v0.1 | TAF13 |
Rebecca Foulger gene: TAF13 was added gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly |
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Fetal anomalies v0.1 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
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Fetal anomalies v0.1 | TACR3 |
Rebecca Foulger gene: TACR3 was added gene: TACR3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM |
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Fetal anomalies v0.1 | TACO1 |
Rebecca Foulger gene: TACO1 was added gene: TACO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | TAC3 |
Rebecca Foulger gene: TAC3 was added gene: TAC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM |
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Fetal anomalies v0.1 | TAB2 |
Rebecca Foulger gene: TAB2 was added gene: TAB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 |
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Fetal anomalies v0.1 | SZT2 |
Rebecca Foulger gene: SZT2 was added gene: SZT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM |
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Fetal anomalies v0.1 | SYP |
Rebecca Foulger gene: SYP was added gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED |
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Fetal anomalies v0.1 | SYNGAP1 |
Rebecca Foulger gene: SYNGAP1 was added gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | SYNE1 |
Rebecca Foulger gene: SYNE1 was added gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | SYN1 |
Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS |
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Fetal anomalies v0.1 | SURF1 |
Rebecca Foulger gene: SURF1 was added gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to LEIGH SYNDROME |
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Fetal anomalies v0.1 | SUMF1 |
Rebecca Foulger gene: SUMF1 was added gene: SUMF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE |
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Fetal anomalies v0.1 | SUFU |
Rebecca Foulger gene: SUFU was added gene: SUFU was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects |
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Fetal anomalies v0.1 | SUCLG1 |
Rebecca Foulger gene: SUCLG1 was added gene: SUCLG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS |
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Fetal anomalies v0.1 | STXBP1 |
Rebecca Foulger gene: STXBP1 was added gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER |
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Fetal anomalies v0.1 | STX1B |
Rebecca Foulger gene: STX1B was added gene: STX1B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
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Fetal anomalies v0.1 | STS |
Rebecca Foulger gene: STS was added gene: STS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED |
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Fetal anomalies v0.1 | STRA6 |
Rebecca Foulger gene: STRA6 was added gene: STRA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9 |
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Fetal anomalies v0.1 | STIL |
Rebecca Foulger gene: STIL was added gene: STIL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 |
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Fetal anomalies v0.1 | STAT5B |
Rebecca Foulger gene: STAT5B was added gene: STAT5B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY |
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Fetal anomalies v0.1 | STAT1 |
Rebecca Foulger gene: STAT1 was added gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE |
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Fetal anomalies v0.1 | STAR |
Rebecca Foulger gene: STAR was added gene: STAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA |
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Fetal anomalies v0.1 | STAMBP |
Rebecca Foulger gene: STAMBP was added gene: STAMBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME |
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Fetal anomalies v0.1 | STAG1 |
Rebecca Foulger gene: STAG1 was added gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability |
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Fetal anomalies v0.1 | ST3GAL5 |
Rebecca Foulger gene: ST3GAL5 was added gene: ST3GAL5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME |
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Fetal anomalies v0.1 | ST3GAL3 |
Rebecca Foulger gene: ST3GAL3 was added gene: ST3GAL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
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Fetal anomalies v0.1 | ST14 |
Rebecca Foulger gene: ST14 was added gene: ST14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS |
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Fetal anomalies v0.1 | SRY |
Rebecca Foulger gene: SRY was added gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1 |
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Fetal anomalies v0.1 | SRP54 |
Rebecca Foulger gene: SRP54 was added gene: SRP54 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features |
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Fetal anomalies v0.1 | SRD5A3 |
Rebecca Foulger gene: SRD5A3 was added gene: SRD5A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | SRD5A2 |
Rebecca Foulger gene: SRD5A2 was added gene: SRD5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SRD5A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SRD5A2 were set to Pseudovaginal perineoscrotal hypospadias 264600 |
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Fetal anomalies v0.1 | SRCAP |
Rebecca Foulger gene: SRCAP was added gene: SRCAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME |
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Fetal anomalies v0.1 | SPTLC2 |
Rebecca Foulger gene: SPTLC2 was added gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
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Fetal anomalies v0.1 | SPTAN1 |
Rebecca Foulger gene: SPTAN1 was added gene: SPTAN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 |
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Fetal anomalies v0.1 | SPRY4 |
Rebecca Foulger gene: SPRY4 was added gene: SPRY4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: SPRY4 was set to Unknown Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266 |
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Fetal anomalies v0.1 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME |
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Fetal anomalies v0.1 | SPR |
Rebecca Foulger gene: SPR was added gene: SPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY |
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Fetal anomalies v0.1 | SPG11 |
Rebecca Foulger gene: SPG11 was added gene: SPG11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 |
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Fetal anomalies v0.1 | SPEG |
Rebecca Foulger gene: SPEG was added gene: SPEG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY |
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Fetal anomalies v0.1 | SPECC1L |
Rebecca Foulger gene: SPECC1L was added gene: SPECC1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1 |
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Fetal anomalies v0.1 | SPATA5 |
Rebecca Foulger gene: SPATA5 was added gene: SPATA5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | SPARC |
Rebecca Foulger gene: SPARC was added gene: SPARC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII |
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Fetal anomalies v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
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Fetal anomalies v0.1 | SP110 |
Rebecca Foulger gene: SP110 was added gene: SP110 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550 |
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Fetal anomalies v0.1 | SOX9 |
Rebecca Foulger gene: SOX9 was added gene: SOX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE |
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Fetal anomalies v0.1 | SOX5 |
Rebecca Foulger gene: SOX5 was added gene: SOX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | SOX3 |
Rebecca Foulger gene: SOX3 was added gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX3 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: SOX3 were set to SEX REVERSAL TYPE 3 |
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Fetal anomalies v0.1 | SOX2 |
Rebecca Foulger gene: SOX2 was added gene: SOX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to AEG SYNDROME |
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Fetal anomalies v0.1 | SOX17 |
Rebecca Foulger gene: SOX17 was added gene: SOX17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3 |
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Fetal anomalies v0.1 | SOX11 |
Rebecca Foulger gene: SOX11 was added gene: SOX11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 |
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Fetal anomalies v0.1 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE |
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Fetal anomalies v0.1 | SOST |
Rebecca Foulger gene: SOST was added gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to 269500; SOST-Related Sclerosing Bone Dysplasias 122860 |
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Fetal anomalies v0.1 | SOS1 |
Rebecca Foulger gene: SOS1 was added gene: SOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4 |
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Fetal anomalies v0.1 | SON |
Rebecca Foulger gene: SON was added gene: SON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive |
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Fetal anomalies v0.1 | SNX14 |
Rebecca Foulger gene: SNX14 was added gene: SNX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA |
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Fetal anomalies v0.1 | SNRPE |
Rebecca Foulger gene: SNRPE was added gene: SNRPE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX |
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Fetal anomalies v0.1 | SNRPB |
Rebecca Foulger gene: SNRPB was added gene: SNRPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME |
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Fetal anomalies v0.1 | SNORD118 |
Rebecca Foulger gene: SNORD118 was added gene: SNORD118 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts |
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Fetal anomalies v0.1 | SNAP29 |
Rebecca Foulger gene: SNAP29 was added gene: SNAP29 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME |
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Fetal anomalies v0.1 | SNAP25 |
Rebecca Foulger gene: SNAP25 was added gene: SNAP25 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | SMS |
Rebecca Foulger gene: SMS was added gene: SMS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME |
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Fetal anomalies v0.1 | SMPD1 |
Rebecca Foulger gene: SMPD1 was added gene: SMPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A |
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Fetal anomalies v0.1 | SMOC2 |
Rebecca Foulger gene: SMOC2 was added gene: SMOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH |
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Fetal anomalies v0.1 | SMOC1 |
Rebecca Foulger gene: SMOC1 was added gene: SMOC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME |
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Fetal anomalies v0.1 | SMO |
Rebecca Foulger gene: SMO was added gene: SMO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMO were set to Curry-Jones Syndrome |
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Fetal anomalies v0.1 | SMN1 |
Rebecca Foulger gene: SMN1 was added gene: SMN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy 253550; Spinal muscular atrophy 271150; Spinal muscular atrophy 253400; Spinal muscular atrophy 253300 |
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Fetal anomalies v0.1 | SMG9 |
Rebecca Foulger gene: SMG9 was added gene: SMG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome |
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Fetal anomalies v0.1 | SMCHD1 |
Rebecca Foulger gene: SMCHD1 was added gene: SMCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome |
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Fetal anomalies v0.1 | SMC3 |
Rebecca Foulger gene: SMC3 was added gene: SMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | SMC1A |
Rebecca Foulger gene: SMC1A was added gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMC1A 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: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | SMARCE1 |
Rebecca Foulger gene: SMARCE1 was added gene: SMARCE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMARCB1 |
Rebecca Foulger gene: SMARCB1 was added gene: SMARCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 |
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Fetal anomalies v0.1 | SMARCAL1 |
Rebecca Foulger gene: SMARCAL1 was added gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA |
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Fetal anomalies v0.1 | SMARCA4 |
Rebecca Foulger gene: SMARCA4 was added gene: SMARCA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMARCA2 |
Rebecca Foulger gene: SMARCA2 was added gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS |
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Fetal anomalies v0.1 | SMAD4 |
Rebecca Foulger gene: SMAD4 was added gene: SMAD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME |
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Fetal anomalies v0.1 | SMAD3 |
Rebecca Foulger gene: SMAD3 was added gene: SMAD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME |
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Fetal anomalies v0.1 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P |
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Fetal anomalies v0.1 | SLC9A6 |
Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE |
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Fetal anomalies v0.1 | SLC6A9 |
Rebecca Foulger gene: SLC6A9 was added gene: SLC6A9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis |
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Fetal anomalies v0.1 | SLC6A8 |
Rebecca Foulger gene: SLC6A8 was added gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME |
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Fetal anomalies v0.1 | SLC6A5 |
Rebecca Foulger gene: SLC6A5 was added gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA |
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Fetal anomalies v0.1 | SLC6A3 |
Rebecca Foulger gene: SLC6A3 was added gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE |
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Fetal anomalies v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 |
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Fetal anomalies v0.1 | SLC6A1 |
Rebecca Foulger gene: SLC6A1 was added gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES |
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Fetal anomalies v0.1 | SLC5A7 |
Rebecca Foulger gene: SLC5A7 was added gene: SLC5A7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea |
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Fetal anomalies v0.1 | SLC5A5 |
Rebecca Foulger gene: SLC5A5 was added gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I |
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Fetal anomalies v0.1 | SLC52A3 |
Rebecca Foulger gene: SLC52A3 was added gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME |
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Fetal anomalies v0.1 | SLC4A4 |
Rebecca Foulger gene: SLC4A4 was added gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES |
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Fetal anomalies v0.1 | SLC4A11 |
Rebecca Foulger gene: SLC4A11 was added gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 |
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Fetal anomalies v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD |
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Fetal anomalies v0.1 | SLC46A1 |
Rebecca Foulger gene: SLC46A1 was added gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION |
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Fetal anomalies v0.1 | SLC45A1 |
Rebecca Foulger gene: SLC45A1 was added gene: SLC45A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy |
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Fetal anomalies v0.1 | SLC39A8 |
Rebecca Foulger gene: SLC39A8 was added gene: SLC39A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy |
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Fetal anomalies v0.1 | SLC39A13 |
Rebecca Foulger gene: SLC39A13 was added gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION |
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Fetal anomalies v0.1 | SLC37A4 |
Rebecca Foulger gene: SLC37A4 was added gene: SLC37A4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220 |
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Fetal anomalies v0.1 | SLC35D1 |
Rebecca Foulger gene: SLC35D1 was added gene: SLC35D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA |
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Fetal anomalies v0.1 | SLC35C1 |
Rebecca Foulger gene: SLC35C1 was added gene: SLC35C1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C |
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Fetal anomalies v0.1 | SLC35A2 |
Rebecca Foulger gene: SLC35A2 was added gene: SLC35A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION |
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Fetal anomalies v0.1 | SLC35A1 |
Rebecca Foulger gene: SLC35A1 was added gene: SLC35A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | SLC33A1 |
Rebecca Foulger gene: SLC33A1 was added gene: SLC33A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN |
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Fetal anomalies v0.1 | SLC2A2 |
Rebecca Foulger gene: SLC2A2 was added gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME |
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Fetal anomalies v0.1 | SLC2A10 |
Rebecca Foulger gene: SLC2A10 was added gene: SLC2A10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME |
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Fetal anomalies v0.1 | SLC2A1 |
Rebecca Foulger gene: SLC2A1 was added gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | SLC27A4 |
Rebecca Foulger gene: SLC27A4 was added gene: SLC27A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME |
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Fetal anomalies v0.1 | SLC26A3 |
Rebecca Foulger gene: SLC26A3 was added gene: SLC26A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type 214700 |
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Fetal anomalies v0.1 | SLC26A2 |
Rebecca Foulger gene: SLC26A2 was added gene: SLC26A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B |
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Fetal anomalies v0.1 | SLC25A4 |
Rebecca Foulger gene: SLC25A4 was added gene: SLC25A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number |
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Fetal anomalies v0.1 | SLC25A38 |
Rebecca Foulger gene: SLC25A38 was added gene: SLC25A38 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | SLC25A26 |
Rebecca Foulger gene: SLC25A26 was added gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY |
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Fetal anomalies v0.1 | SLC25A24 |
Rebecca Foulger gene: SLC25A24 was added gene: SLC25A24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction |
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Fetal anomalies v0.1 | SLC25A22 |
Rebecca Foulger gene: SLC25A22 was added gene: SLC25A22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 |
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Fetal anomalies v0.1 | SLC25A20 |
Rebecca Foulger gene: SLC25A20 was added gene: SLC25A20 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
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Fetal anomalies v0.1 | SLC25A19 |
Rebecca Foulger gene: SLC25A19 was added gene: SLC25A19 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY |
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Fetal anomalies v0.1 | SLC25A15 |
Rebecca Foulger gene: SLC25A15 was added gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
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Fetal anomalies v0.1 | SLC24A4 |
Rebecca Foulger gene: SLC24A4 was added gene: SLC24A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA. |
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Fetal anomalies v0.1 | SLC22A5 |
Rebecca Foulger gene: SLC22A5 was added gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY |
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Fetal anomalies v0.1 | SLC1A2 |
Rebecca Foulger gene: SLC1A2 was added gene: SLC1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | SLC19A3 |
Rebecca Foulger gene: SLC19A3 was added gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 |
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Fetal anomalies v0.1 | SLC17A5 |
Rebecca Foulger gene: SLC17A5 was added gene: SLC17A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to SALLA DISEASE |
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Fetal anomalies v0.1 | SLC16A2 |
Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY |
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Fetal anomalies v0.1 | SLC13A5 |
Rebecca Foulger gene: SLC13A5 was added gene: SLC13A5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE |
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Fetal anomalies v0.1 | SLC12A6 |
Rebecca Foulger gene: SLC12A6 was added gene: SLC12A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY |
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Fetal anomalies v0.1 | SLC12A1 |
Rebecca Foulger gene: SLC12A1 was added gene: SLC12A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1 601678 |
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Fetal anomalies v0.1 | SKIV2L |
Rebecca Foulger gene: SKIV2L was added gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 |
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Fetal anomalies v0.1 | SKI |
Rebecca Foulger gene: SKI was added gene: SKI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME |
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Fetal anomalies v0.1 | SIX5 |
Rebecca Foulger gene: SIX5 was added gene: SIX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | SIX3 |
Rebecca Foulger gene: SIX3 was added gene: SIX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY |
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Fetal anomalies v0.1 | SIX1 |
Rebecca Foulger gene: SIX1 was added gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | SIN3A |
Rebecca Foulger gene: SIN3A was added gene: SIN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | SIL1 |
Rebecca Foulger gene: SIL1 was added gene: SIL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME |
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Fetal anomalies v0.1 | SIK1 |
Rebecca Foulger gene: SIK1 was added gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM |
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Fetal anomalies v0.1 | SHROOM3 |
Rebecca Foulger gene: SHROOM3 was added gene: SHROOM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT |
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Fetal anomalies v0.1 | SHOX |
Rebecca Foulger gene: SHOX was added gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA |
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Fetal anomalies v0.1 | SHOC2 |
Rebecca Foulger gene: SHOC2 was added gene: SHOC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR |
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Fetal anomalies v0.1 | SHH |
Rebecca Foulger gene: SHH was added gene: SHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME |
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Fetal anomalies v0.1 | SHANK3 |
Rebecca Foulger gene: SHANK3 was added gene: SHANK3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME |
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Fetal anomalies v0.1 | SHANK2 |
Rebecca Foulger gene: SHANK2 was added gene: SHANK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 |
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Fetal anomalies v0.1 | SHANK1 |
Rebecca Foulger gene: SHANK1 was added gene: SHANK1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SHANK1 were set to AUTISM |
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Fetal anomalies v0.1 | SH3PXD2B |
Rebecca Foulger gene: SH3PXD2B was added gene: SH3PXD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME |
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Fetal anomalies v0.1 | SGSH |
Rebecca Foulger gene: SGSH was added gene: SGSH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A |
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Fetal anomalies v0.1 | SGCA |
Rebecca Foulger gene: SGCA was added gene: SGCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099 |
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Fetal anomalies v0.1 | SF3B4 |
Rebecca Foulger gene: SF3B4 was added gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE |
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Fetal anomalies v0.1 | SETD5 |
Rebecca Foulger gene: SETD5 was added gene: SETD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 |
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Fetal anomalies v0.1 | SETD2 |
Rebecca Foulger gene: SETD2 was added gene: SETD2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome |
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Fetal anomalies v0.1 | SETD1A |
Rebecca Foulger gene: SETD1A was added gene: SETD1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | SETBP1 | Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | SETBP1 |
Rebecca Foulger gene: SETBP1 was added gene: SETBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME |
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Fetal anomalies v0.1 | SET |
Rebecca Foulger gene: SET was added gene: SET was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SET were set to SET syndrome |
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Fetal anomalies v0.1 | SELENON |
Rebecca Foulger gene: SELENON was added gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 |
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Fetal anomalies v0.1 | SECISBP2 |
Rebecca Foulger gene: SECISBP2 was added gene: SECISBP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL |
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Fetal anomalies v0.1 | SEC24D |
Rebecca Foulger gene: SEC24D was added gene: SEC24D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA |
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Fetal anomalies v0.1 | SEC23B |
Rebecca Foulger gene: SEC23B was added gene: SEC23B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II |
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Fetal anomalies v0.1 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY |
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Fetal anomalies v0.1 | SDHA |
Rebecca Foulger gene: SDHA was added gene: SDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to LEIGH SYNDROME |
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Fetal anomalies v0.1 | SDCCAG8 |
Rebecca Foulger gene: SDCCAG8 was added gene: SDCCAG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7 |
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Fetal anomalies v0.1 | SCYL1 |
Rebecca Foulger gene: SCYL1 was added gene: SCYL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia |
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Fetal anomalies v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY |
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Fetal anomalies v0.1 | SCO1 |
Rebecca Foulger gene: SCO1 was added gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | SCN8A |
Rebecca Foulger gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA |
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Fetal anomalies v0.1 | SCN4A |
Rebecca Foulger gene: SCN4A was added gene: SCN4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS |
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Fetal anomalies v0.1 | SCN3A |
Rebecca Foulger gene: SCN3A was added gene: SCN3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN3A were set to Focal epilepsy |
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Fetal anomalies v0.1 | SCN2A |
Rebecca Foulger gene: SCN2A was added gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID |
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Fetal anomalies v0.1 | SCN1B |
Rebecca Foulger gene: SCN1B was added gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 |
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Fetal anomalies v0.1 | SCN1A |
Rebecca Foulger gene: SCN1A was added gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS |
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Fetal anomalies v0.1 | SCN11A |
Rebecca Foulger gene: SCN11A was added gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN |
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Fetal anomalies v0.1 | SCARF2 |
Rebecca Foulger gene: SCARF2 was added gene: SCARF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME |
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Fetal anomalies v0.1 | SC5D |
Rebecca Foulger gene: SC5D was added gene: SC5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS |
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Fetal anomalies v0.1 | SBDS |
Rebecca Foulger gene: SBDS was added gene: SBDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME |
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Fetal anomalies v0.1 | SATB2 |
Rebecca Foulger gene: SATB2 was added gene: SATB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED |
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Fetal anomalies v0.1 | SASS6 |
Rebecca Foulger gene: SASS6 was added gene: SASS6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Exper Review Amber Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SASS6 were set to 24951542 Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402 |
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Fetal anomalies v0.1 | SAMHD1 |
Rebecca Foulger gene: SAMHD1 was added gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME |
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Fetal anomalies v0.1 | SALL4 |
Rebecca Foulger gene: SALL4 was added gene: SALL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME |
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Fetal anomalies v0.1 | SALL1 |
Rebecca Foulger gene: SALL1 was added gene: SALL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME |
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Fetal anomalies v0.1 | SACS |
Rebecca Foulger gene: SACS was added gene: SACS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE |
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Fetal anomalies v0.1 | RYR1 |
Rebecca Foulger gene: RYR1 was added gene: RYR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA |
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Fetal anomalies v0.1 | TMEM5 |
Rebecca Foulger gene: TMEM5 was added gene: TMEM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY |
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Fetal anomalies v0.1 | RUNX2 |
Rebecca Foulger gene: RUNX2 was added gene: RUNX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA |
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Fetal anomalies v0.1 | RTTN |
Rebecca Foulger gene: RTTN was added gene: RTTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA |
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Fetal anomalies v0.1 | RTN4IP1 |
Rebecca Foulger gene: RTN4IP1 was added gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY |
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Fetal anomalies v0.1 | RTEL1 |
Rebecca Foulger gene: RTEL1 was added gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 |
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Fetal anomalies v0.1 | RSPRY1 |
Rebecca Foulger gene: RSPRY1 was added gene: RSPRY1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA |
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Fetal anomalies v0.1 | RSPO4 |
Rebecca Foulger gene: RSPO4 was added gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA |
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Fetal anomalies v0.1 | RSPH9 |
Rebecca Foulger gene: RSPH9 was added gene: RSPH9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650 |
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Fetal anomalies v0.1 | RSPH4A |
Rebecca Foulger gene: RSPH4A was added gene: RSPH4A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649 |
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Fetal anomalies v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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Fetal anomalies v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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Fetal anomalies v0.1 | RRM2B |
Rebecca Foulger gene: RRM2B was added gene: RRM2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome |
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Fetal anomalies v0.1 | RRAS |
Rebecca Foulger gene: RRAS was added gene: RRAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME |
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Fetal anomalies v0.1 | RPS6KA3 |
Rebecca Foulger gene: RPS6KA3 was added gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 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: RPS6KA3 were set to COFFIN-LOWRY SYNDROME |
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Fetal anomalies v0.1 | RPS26 |
Rebecca Foulger gene: RPS26 was added gene: RPS26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 613309 |
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Fetal anomalies v0.1 | RPS24 |
Rebecca Foulger gene: RPS24 was added gene: RPS24 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3 610629 |
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Fetal anomalies v0.1 | RPS23 |
Rebecca Foulger gene: RPS23 was added gene: RPS23 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features |
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Fetal anomalies v0.1 | RPS19 |
Rebecca Foulger gene: RPS19 was added gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA |
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Fetal anomalies v0.1 | RPS17 |
Rebecca Foulger gene: RPS17 was added gene: RPS17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 612527 |
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Fetal anomalies v0.1 | RPS10 |
Rebecca Foulger gene: RPS10 was added gene: RPS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9 613308 |
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Fetal anomalies v0.1 | RPL5 |
Rebecca Foulger gene: RPL5 was added gene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561 |
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Fetal anomalies v0.1 | RPL35A |
Rebecca Foulger gene: RPL35A was added gene: RPL35A was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5 612528 |
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Fetal anomalies v0.1 | RPL11 |
Rebecca Foulger gene: RPL11 was added gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs |
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Fetal anomalies v0.1 | RPGRIP1L |
Rebecca Foulger gene: RPGRIP1L was added gene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME |
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Fetal anomalies v0.1 | RPGRIP1 |
Rebecca Foulger gene: RPGRIP1 was added gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6 |
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Fetal anomalies v0.1 | RPE65 |
Rebecca Foulger gene: RPE65 was added gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS |
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Fetal anomalies v0.1 | RORA |
Rebecca Foulger gene: RORA was added gene: RORA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | ROR2 |
Rebecca Foulger gene: ROR2 was added gene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR |
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Fetal anomalies v0.1 | ROGDI |
Rebecca Foulger gene: ROGDI was added gene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME |
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Fetal anomalies v0.1 | ROBO1 |
Rebecca Foulger gene: ROBO1 was added gene: ROBO1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ROBO1 were set to 28592524; 28485101 Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects |
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Fetal anomalies v0.1 | RNU4ATAC |
Rebecca Foulger gene: RNU4ATAC was added gene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I |
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Fetal anomalies v0.1 | RNASET2 |
Rebecca Foulger gene: RNASET2 was added gene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY |
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Fetal anomalies v0.1 | RNASEH2C |
Rebecca Foulger gene: RNASEH2C was added gene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 |
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Fetal anomalies v0.1 | RNASEH2B |
Rebecca Foulger gene: RNASEH2B was added gene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 |
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Fetal anomalies v0.1 | RNASEH2A |
Rebecca Foulger gene: RNASEH2A was added gene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 |
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Fetal anomalies v0.1 | RMRP |
Rebecca Foulger gene: RMRP was added gene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA |
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Fetal anomalies v0.1 | RMND1 |
Rebecca Foulger gene: RMND1 was added gene: RMND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT |
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Fetal anomalies v0.1 | RLIM |
Rebecca Foulger gene: RLIM was added gene: RLIM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | RIT1 |
Rebecca Foulger gene: RIT1 was added gene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8 |
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Fetal anomalies v0.1 | RIPK4 |
Rebecca Foulger gene: RIPK4 was added gene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE |
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Fetal anomalies v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
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Fetal anomalies v0.1 | RFX6 |
Rebecca Foulger gene: RFX6 was added gene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME |
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Fetal anomalies v0.1 | RFT1 |
Rebecca Foulger gene: RFT1 was added gene: RFT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N |
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Fetal anomalies v0.1 | RETREG1 |
Rebecca Foulger gene: RETREG1 was added gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB |
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Fetal anomalies v0.1 | RET |
Rebecca Foulger gene: RET was added gene: RET was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RET were set to RENAL AGENESIS |
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Fetal anomalies v0.1 | RERE |
Rebecca Foulger gene: RERE was added gene: RERE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions |
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Fetal anomalies v0.1 | REN |
Rebecca Foulger gene: REN was added gene: REN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis 267430 |
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Fetal anomalies v0.1 | RELN |
Rebecca Foulger gene: RELN was added gene: RELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RELN were set to LISSENCEPHALY 2 |
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Fetal anomalies v0.1 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME |
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Fetal anomalies v0.1 | RBPJ |
Rebecca Foulger gene: RBPJ was added gene: RBPJ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME |
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Fetal anomalies v0.1 | RBM8A |
Rebecca Foulger gene: RBM8A was added gene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME |
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Fetal anomalies v0.1 | RBM10 |
Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP SYNDROME |
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Fetal anomalies v0.1 | RAX |
Rebecca Foulger gene: RAX was added gene: RAX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 |
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Fetal anomalies v0.1 | RASA1 |
Rebecca Foulger gene: RASA1 was added gene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME |
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Fetal anomalies v0.1 | RARS2 |
Rebecca Foulger gene: RARS2 was added gene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 |
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Fetal anomalies v0.1 | RARB |
Rebecca Foulger gene: RARB was added gene: RARB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA |
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Fetal anomalies v0.1 | RAPSN |
Rebecca Foulger gene: RAPSN was added gene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
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Fetal anomalies v0.1 | RAI1 |
Rebecca Foulger gene: RAI1 was added gene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME |
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Fetal anomalies v0.1 | RAF1 |
Rebecca Foulger gene: RAF1 was added gene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5 |
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Fetal anomalies v0.1 | RAD51C |
Rebecca Foulger gene: RAD51C was added gene: RAD51C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 |
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Fetal anomalies v0.1 | RAD51 |
Rebecca Foulger gene: RAD51 was added gene: RAD51 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 |
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Fetal anomalies v0.1 | RAD21 |
Rebecca Foulger gene: RAD21 was added gene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD21 were set to COHESINOPATHY |
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Fetal anomalies v0.1 | RAC1 |
Rebecca Foulger gene: RAC1 was added gene: RAC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes |
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Fetal anomalies v0.1 | RAB3GAP2 |
Rebecca Foulger gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME |
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Fetal anomalies v0.1 | RAB3GAP1 |
Rebecca Foulger gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | RAB39B |
Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS |
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Fetal anomalies v0.1 | RAB23 |
Rebecca Foulger gene: RAB23 was added gene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2 |
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Fetal anomalies v0.1 | RAB18 |
Rebecca Foulger gene: RAB18 was added gene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | RAB11B |
Rebecca Foulger gene: RAB11B was added gene: RAB11B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | RAB11A |
Rebecca Foulger gene: RAB11A was added gene: RAB11A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | QRICH1 |
Rebecca Foulger gene: QRICH1 was added gene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: QRICH1 were set to QRICH1 syndrome |
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Fetal anomalies v0.1 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C |
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Fetal anomalies v0.1 | QARS |
Rebecca Foulger gene: QARS was added gene: QARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY |
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Fetal anomalies v0.1 | PYROXD1 |
Rebecca Foulger gene: PYROXD1 was added gene: PYROXD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization |
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Fetal anomalies v0.1 | PYGL |
Rebecca Foulger gene: PYGL was added gene: PYGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI |
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Fetal anomalies v0.1 | PYCR2 |
Rebecca Foulger gene: PYCR2 was added gene: PYCR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME |
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Fetal anomalies v0.1 | PYCR1 |
Rebecca Foulger gene: PYCR1 was added gene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB |
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Fetal anomalies v0.1 | PXDN |
Rebecca Foulger gene: PXDN was added gene: PXDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
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Fetal anomalies v0.1 | PURA |
Rebecca Foulger gene: PURA was added gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | PUF60 |
Rebecca Foulger gene: PUF60 was added gene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PUF60 were set to PUF60 syndrome |
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Fetal anomalies v0.1 | PTS |
Rebecca Foulger gene: PTS was added gene: PTS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY |
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Fetal anomalies v0.1 | PTPN14 |
Rebecca Foulger gene: PTPN14 was added gene: PTPN14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA |
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Fetal anomalies v0.1 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | PTHLH |
Rebecca Foulger gene: PTHLH was added gene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS |
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Fetal anomalies v0.1 | PTH1R |
Rebecca Foulger gene: PTH1R was added gene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION |
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Fetal anomalies v0.1 | PTH |
Rebecca Foulger gene: PTH was added gene: PTH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM |
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Fetal anomalies v0.1 | PTF1A |
Rebecca Foulger gene: PTF1A was added gene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS |
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Fetal anomalies v0.1 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME |
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Fetal anomalies v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM |
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Fetal anomalies v0.1 | PTCHD1 |
Rebecca Foulger gene: PTCHD1 was added gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PTCHD1 were set to AUTISM/ID |
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Fetal anomalies v0.1 | PTCH1 |
Rebecca Foulger gene: PTCH1 was added gene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 |
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Fetal anomalies v0.1 | PSPH |
Rebecca Foulger gene: PSPH was added gene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY |
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Fetal anomalies v0.1 | PSMB8 |
Rebecca Foulger gene: PSMB8 was added gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME |
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Fetal anomalies v0.1 | PSAT1 |
Rebecca Foulger gene: PSAT1 was added gene: PSAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | PSAP |
Rebecca Foulger gene: PSAP was added gene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE |
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Fetal anomalies v0.1 | PRX |
Rebecca Foulger gene: PRX was added gene: PRX was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895 |
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Fetal anomalies v0.1 | PRUNE1 |
Rebecca Foulger gene: PRUNE1 was added gene: PRUNE1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRUNE1 were set to PEHO Like condition |
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Fetal anomalies v0.1 | PRSS56 |
Rebecca Foulger gene: PRSS56 was added gene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6 |
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Fetal anomalies v0.1 | PRSS12 |
Rebecca Foulger gene: PRSS12 was added gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 |
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Fetal anomalies v0.1 | PRRT2 |
Rebecca Foulger gene: PRRT2 was added gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | PRPS1 |
Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 |
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Fetal anomalies v0.1 | PROP1 |
Rebecca Foulger gene: PROP1 was added gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
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Fetal anomalies v0.1 | PROKR2 |
Rebecca Foulger gene: PROKR2 was added gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200 |
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Fetal anomalies v0.1 | PROK2 |
Rebecca Foulger gene: PROK2 was added gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 |
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Fetal anomalies v0.1 | PRMT7 |
Rebecca Foulger gene: PRMT7 was added gene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder |
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Fetal anomalies v0.1 | PRKD1 |
Rebecca Foulger gene: PRKD1 was added gene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects |
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Fetal anomalies v0.1 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS |
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Fetal anomalies v0.1 | PRG4 |
Rebecca Foulger gene: PRG4 was added gene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250 |
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Fetal anomalies v0.1 | PREPL |
Rebecca Foulger gene: PREPL was added gene: PREPL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME |
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Fetal anomalies v0.1 | PRDM12 |
Rebecca Foulger gene: PRDM12 was added gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII |
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Fetal anomalies v0.1 | PQBP1 |
Rebecca Foulger gene: PQBP1 was added gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1 |
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Fetal anomalies v0.1 | PPT1 |
Rebecca Foulger gene: PPT1 was added gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 |
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Fetal anomalies v0.1 | PPP3CA |
Rebecca Foulger gene: PPP3CA was added gene: PPP3CA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures |
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Fetal anomalies v0.1 | PPP2R5D |
Rebecca Foulger gene: PPP2R5D was added gene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | PPP2R1A |
Rebecca Foulger gene: PPP2R1A was added gene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair |
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Fetal anomalies v0.1 | PPM1D |
Rebecca Foulger gene: PPM1D was added gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPM1D were set to PPM1D syndrome |
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Fetal anomalies v0.1 | PPIB |
Rebecca Foulger gene: PPIB was added gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440 |
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Fetal anomalies v0.1 | PPA2 |
Rebecca Foulger gene: PPA2 was added gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger |
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Fetal anomalies v0.1 | POU1F1 |
Rebecca Foulger gene: POU1F1 was added gene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
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Fetal anomalies v0.1 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PORCN 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: PORCN were set to FOCAL DERMAL HYPOPLASIA |
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Fetal anomalies v0.1 | POR |
Rebecca Foulger gene: POR was added gene: POR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 |
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Fetal anomalies v0.1 | POMT2 |
Rebecca Foulger gene: POMT2 was added gene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 |
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Fetal anomalies v0.1 | POMT1 |
Rebecca Foulger gene: POMT1 was added gene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 |
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Fetal anomalies v0.1 | POMK |
Rebecca Foulger gene: POMK was added gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249 |
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Fetal anomalies v0.1 | POMGNT2 |
Rebecca Foulger gene: POMGNT2 was added gene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME |
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Fetal anomalies v0.1 | POMGNT1 |
Rebecca Foulger gene: POMGNT1 was added gene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 |
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Fetal anomalies v0.1 | POLR3B |
Rebecca Foulger gene: POLR3B was added gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM |
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Fetal anomalies v0.1 | POLR3A |
Rebecca Foulger gene: POLR3A was added gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM |
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Fetal anomalies v0.1 | POLR1D |
Rebecca Foulger gene: POLR1D was added gene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | POLR1C |
Rebecca Foulger gene: POLR1C was added gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | POLR1A |
Rebecca Foulger gene: POLR1A was added gene: POLR1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE |
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Fetal anomalies v0.1 | POLG |
Rebecca Foulger gene: POLG was added gene: POLG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A |
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Fetal anomalies v0.1 | POLD1 |
Rebecca Foulger gene: POLD1 was added gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM |
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Fetal anomalies v0.1 | POGZ |
Rebecca Foulger gene: POGZ was added gene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | POC1B |
Rebecca Foulger gene: POC1B was added gene: POC1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY |
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Fetal anomalies v0.1 | POC1A |
Rebecca Foulger gene: POC1A was added gene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME |
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Fetal anomalies v0.1 | PNPT1 |
Rebecca Foulger gene: PNPT1 was added gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER |
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Fetal anomalies v0.1 | PNPLA1 |
Rebecca Foulger gene: PNPLA1 was added gene: PNPLA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS |
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Fetal anomalies v0.1 | PNKP |
Rebecca Foulger gene: PNKP was added gene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 |
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Fetal anomalies v0.1 | PMS2 |
Rebecca Foulger gene: PMS2 was added gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME |
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Fetal anomalies v0.1 | PMP22 |
Rebecca Foulger gene: PMP22 was added gene: PMP22 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease, type 1A 118220 |
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Fetal anomalies v0.1 | PMM2 |
Rebecca Foulger gene: PMM2 was added gene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | PLPBP |
Rebecca Foulger gene: PLPBP was added gene: PLPBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy |
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Fetal anomalies v0.1 | PLP1 |
Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1 |
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Fetal anomalies v0.1 | PLOD2 |
Rebecca Foulger gene: PLOD2 was added gene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | PLOD1 |
Rebecca Foulger gene: PLOD1 was added gene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM |
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Fetal anomalies v0.1 | PLK4 |
Rebecca Foulger gene: PLK4 was added gene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY |
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Fetal anomalies v0.1 | PLCE1 |
Rebecca Foulger gene: PLCE1 was added gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 |
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Fetal anomalies v0.1 | PLCB4 |
Rebecca Foulger gene: PLCB4 was added gene: PLCB4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME |
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Fetal anomalies v0.1 | PLCB1 |
Rebecca Foulger gene: PLCB1 was added gene: PLCB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 |
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Fetal anomalies v0.1 | PLAA |
Rebecca Foulger gene: PLAA was added gene: PLAA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
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Fetal anomalies v0.1 | PLA2G6 |
Rebecca Foulger gene: PLA2G6 was added gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B |
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Fetal anomalies v0.1 | PKLR |
Rebecca Foulger gene: PKLR was added gene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200 |
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Fetal anomalies v0.1 | PKHD1 |
Rebecca Foulger gene: PKHD1 was added gene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | PKD2 |
Rebecca Foulger gene: PKD2 was added gene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD2 were set to Polycystic kidney disease 613095 |
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Fetal anomalies v0.1 | PKD1L1 |
Rebecca Foulger gene: PKD1L1 was added gene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKD1L1 were set to Laterality defects |
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Fetal anomalies v0.1 | PKD1 |
Rebecca Foulger gene: PKD1 was added gene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD1 were set to Polycystic kidney disease 173900 |
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Fetal anomalies v0.1 | PITX3 |
Rebecca Foulger gene: PITX3 was added gene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 |
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Fetal anomalies v0.1 | PITX2 |
Rebecca Foulger gene: PITX2 was added gene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 |
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Fetal anomalies v0.1 | PITX1 |
Rebecca Foulger gene: PITX1 was added gene: PITX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS |
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Fetal anomalies v0.1 | PIK3R2 |
Rebecca Foulger gene: PIK3R2 was added gene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 |
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Fetal anomalies v0.1 | PIK3R1 |
Rebecca Foulger gene: PIK3R1 was added gene: PIK3R1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME |
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Fetal anomalies v0.1 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI |
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Fetal anomalies v0.1 | PIGY |
Rebecca Foulger gene: PIGY was added gene: PIGY was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency |
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Fetal anomalies v0.1 | PIGV |
Rebecca Foulger gene: PIGV was added gene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION |
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Fetal anomalies v0.1 | PIGT |
Rebecca Foulger gene: PIGT was added gene: PIGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 |
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Fetal anomalies v0.1 | PIGO |
Rebecca Foulger gene: PIGO was added gene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 |
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Fetal anomalies v0.1 | PIGN |
Rebecca Foulger gene: PIGN was added gene: PIGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME |
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Fetal anomalies v0.1 | PIGL |
Rebecca Foulger gene: PIGL was added gene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME |
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Fetal anomalies v0.1 | PIGG |
Rebecca Foulger gene: PIGG was added gene: PIGG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia |
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Fetal anomalies v0.1 | PIGA |
Rebecca Foulger gene: PIGA was added gene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 |
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Fetal anomalies v0.1 | PIEZO2 |
Rebecca Foulger gene: PIEZO2 was added gene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 |
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Fetal anomalies v0.1 | PIEZO1 |
Rebecca Foulger gene: PIEZO1 was added gene: PIEZO1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIEZO1 were set to 26333996 Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema |
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Fetal anomalies v0.1 | PHOX2B |
Rebecca Foulger gene: PHOX2B was added gene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE |
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Fetal anomalies v0.1 | PHIP |
Rebecca Foulger gene: PHIP was added gene: PHIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features |
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Fetal anomalies v0.1 | PHGDH |
Rebecca Foulger gene: PHGDH was added gene: PHGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME |
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Fetal anomalies v0.1 | PHF8 |
Rebecca Foulger gene: PHF8 was added gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE |
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Fetal anomalies v0.1 | PHF6 |
Rebecca Foulger gene: PHF6 was added gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME |
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Fetal anomalies v0.1 | PHF21A |
Rebecca Foulger gene: PHF21A was added gene: PHF21A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME |
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Fetal anomalies v0.1 | PGM3 |
Rebecca Foulger gene: PGM3 was added gene: PGM3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23 |
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Fetal anomalies v0.1 | PGM1 |
Rebecca Foulger gene: PGM1 was added gene: PGM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT |
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Fetal anomalies v0.1 | PGK1 |
Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY |
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Fetal anomalies v0.1 | PGAP3 |
Rebecca Foulger gene: PGAP3 was added gene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 |
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Fetal anomalies v0.1 | PGAP2 |
Rebecca Foulger gene: PGAP2 was added gene: PGAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | PGAP1 |
Rebecca Foulger gene: PGAP1 was added gene: PGAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation |
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Fetal anomalies v0.1 | PEX7 |
Rebecca Foulger gene: PEX7 was added gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to REFSUM DISEASE |
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Fetal anomalies v0.1 | PEX6 |
Rebecca Foulger gene: PEX6 was added gene: PEX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME |
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Fetal anomalies v0.1 | PEX5 |
Rebecca Foulger gene: PEX5 was added gene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL |
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Fetal anomalies v0.1 | PEX3 |
Rebecca Foulger gene: PEX3 was added gene: PEX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 |
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Fetal anomalies v0.1 | PEX26 |
Rebecca Foulger gene: PEX26 was added gene: PEX26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE |
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Fetal anomalies v0.1 | PEX2 |
Rebecca Foulger gene: PEX2 was added gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME |
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Fetal anomalies v0.1 | PEX19 |
Rebecca Foulger gene: PEX19 was added gene: PEX19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME |
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Fetal anomalies v0.1 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 |
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Fetal anomalies v0.1 | PEX14 |
Rebecca Foulger gene: PEX14 was added gene: PEX14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME |
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Fetal anomalies v0.1 | PEX13 |
Rebecca Foulger gene: PEX13 was added gene: PEX13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL |
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Fetal anomalies v0.1 | PEX12 |
Rebecca Foulger gene: PEX12 was added gene: PEX12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME |
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Fetal anomalies v0.1 | PEX11B |
Rebecca Foulger gene: PEX11B was added gene: PEX11B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B |
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Fetal anomalies v0.1 | PEX10 |
Rebecca Foulger gene: PEX10 was added gene: PEX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL |
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Fetal anomalies v0.1 | PEX1 |
Rebecca Foulger gene: PEX1 was added gene: PEX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 |
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Fetal anomalies v0.1 | PET100 |
Rebecca Foulger gene: PET100 was added gene: PET100 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | PEPD |
Rebecca Foulger gene: PEPD was added gene: PEPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY |
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Fetal anomalies v0.1 | PDSS2 |
Rebecca Foulger gene: PDSS2 was added gene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 |
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Fetal anomalies v0.1 | PDSS1 |
Rebecca Foulger gene: PDSS1 was added gene: PDSS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 |
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Fetal anomalies v0.1 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY |
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Fetal anomalies v0.1 | PDHA1 |
Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 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: PDHA1 were set to X-LINKED LEIGH SYNDROME |
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Fetal anomalies v0.1 | PDGFRB |
Rebecca Foulger gene: PDGFRB was added gene: PDGFRB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS |
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Fetal anomalies v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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Fetal anomalies v0.1 | PDE6G |
Rebecca Foulger gene: PDE6G was added gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 |
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Fetal anomalies v0.1 | PDE4D |
Rebecca Foulger gene: PDE4D was added gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS |
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Fetal anomalies v0.1 | PDE10A |
Rebecca Foulger gene: PDE10A was added gene: PDE10A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions |
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Fetal anomalies v0.1 | PDCD10 |
Rebecca Foulger gene: PDCD10 was added gene: PDCD10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 |
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Fetal anomalies v0.1 | PCYT1A |
Rebecca Foulger gene: PCYT1A was added gene: PCYT1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY |
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Fetal anomalies v0.1 | PCNT |
Rebecca Foulger gene: PCNT was added gene: PCNT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II |
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Fetal anomalies v0.1 | PCGF2 |
Rebecca Foulger gene: PCGF2 was added gene: PCGF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY |
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Fetal anomalies v0.1 | PCDH19 |
Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 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: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 |
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Fetal anomalies v0.1 | PCCB |
Rebecca Foulger gene: PCCB was added gene: PCCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA |
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Fetal anomalies v0.1 | PCCA |
Rebecca Foulger gene: PCCA was added gene: PCCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA |
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Fetal anomalies v0.1 | PCBD1 |
Rebecca Foulger gene: PCBD1 was added gene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D |
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Fetal anomalies v0.1 | C2orf71 |
Rebecca Foulger gene: C2orf71 was added gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 |
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Fetal anomalies v0.1 | PC |
Rebecca Foulger gene: PC was added gene: PC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY |
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Fetal anomalies v0.1 | PAX9 |
Rebecca Foulger gene: PAX9 was added gene: PAX9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 |
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Fetal anomalies v0.1 | PAX8 |
Rebecca Foulger gene: PAX8 was added gene: PAX8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 |
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Fetal anomalies v0.1 | PAX6 |
Rebecca Foulger gene: PAX6 was added gene: PAX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY |
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Fetal anomalies v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 |
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Fetal anomalies v0.1 | PAX2 |
Rebecca Foulger gene: PAX2 was added gene: PAX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME |
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Fetal anomalies v0.1 | PARN |
Rebecca Foulger gene: PARN was added gene: PARN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6 |
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Fetal anomalies v0.1 | PAPSS2 |
Rebecca Foulger gene: PAPSS2 was added gene: PAPSS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE |
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Fetal anomalies v0.1 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N |
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Fetal anomalies v0.1 | PAK3 |
Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM |
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Fetal anomalies v0.1 | PAH |
Rebecca Foulger gene: PAH was added gene: PAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA |
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Fetal anomalies v0.1 | PAFAH1B1 |
Rebecca Foulger gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 |
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Fetal anomalies v0.1 | PACS1 |
Rebecca Foulger gene: PACS1 was added gene: PACS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | P4HB |
Rebecca Foulger gene: P4HB was added gene: P4HB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME |
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Fetal anomalies v0.1 | P3H1 |
Rebecca Foulger gene: P3H1 was added gene: P3H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII |
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Fetal anomalies v0.1 | OXCT1 |
Rebecca Foulger gene: OXCT1 was added gene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | OTX2 |
Rebecca Foulger gene: OTX2 was added gene: OTX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5 |
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Fetal anomalies v0.1 | OTULIN |
Rebecca Foulger gene: OTULIN was added gene: OTULIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome |
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Fetal anomalies v0.1 | OTUD6B |
Rebecca Foulger gene: OTUD6B was added gene: OTUD6B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features |
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Fetal anomalies v0.1 | OTOGL |
Rebecca Foulger gene: OTOGL was added gene: OTOGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS |
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Fetal anomalies v0.1 | OTC |
Rebecca Foulger gene: OTC was added gene: OTC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
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Fetal anomalies v0.1 | OSTM1 |
Rebecca Foulger gene: OSTM1 was added gene: OSTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSTM1 were set to Osteopetrosis 259720 |
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Fetal anomalies v0.1 | OSGEP |
Rebecca Foulger gene: OSGEP was added gene: OSGEP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly |
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Fetal anomalies v0.1 | ORC6 |
Rebecca Foulger gene: ORC6 was added gene: ORC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3 |
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Fetal anomalies v0.1 | ORC4 |
Rebecca Foulger gene: ORC4 was added gene: ORC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2 |
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Fetal anomalies v0.1 | ORC1 |
Rebecca Foulger gene: ORC1 was added gene: ORC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1 |
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Fetal anomalies v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED |
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Fetal anomalies v0.1 | OFD1 |
Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OFD1 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: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | C4orf26 |
Rebecca Foulger gene: C4orf26 was added gene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C4orf26 were set to AMYELOGENESIS |
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Fetal anomalies v0.1 | OCRL |
Rebecca Foulger gene: OCRL was added gene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME |
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Fetal anomalies v0.1 | OCLN |
Rebecca Foulger gene: OCLN was added gene: OCLN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290 |
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Fetal anomalies v0.1 | OBSL1 |
Rebecca Foulger gene: OBSL1 was added gene: OBSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2 |
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Fetal anomalies v0.1 | NYX |
Rebecca Foulger gene: NYX was added gene: NYX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A |
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Fetal anomalies v0.1 | NUS1 |
Rebecca Foulger gene: NUS1 was added gene: NUS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | NUP62 |
Rebecca Foulger gene: NUP62 was added gene: NUP62 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION |
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Fetal anomalies v0.1 | NUP107 |
Rebecca Foulger gene: NUP107 was added gene: NUP107 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME |
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Fetal anomalies v0.1 | NUBPL |
Rebecca Foulger gene: NUBPL was added gene: NUBPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NTRK2 |
Rebecca Foulger gene: NTRK2 was added gene: NTRK2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | NTRK1 |
Rebecca Foulger gene: NTRK1 was added gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS |
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Fetal anomalies v0.1 | NT5C3A |
Rebecca Foulger gene: NT5C3A was added gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY |
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Fetal anomalies v0.1 | NT5C2 |
Rebecca Foulger gene: NT5C2 was added gene: NT5C2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162 |
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Fetal anomalies v0.1 | NSUN2 |
Rebecca Foulger gene: NSUN2 was added gene: NSUN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 |
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Fetal anomalies v0.1 | NSMF |
Rebecca Foulger gene: NSMF was added gene: NSMF was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838 |
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Fetal anomalies v0.1 | NSDHL |
Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NSDHL 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: NSDHL were set to CK SYNDROME |
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Fetal anomalies v0.1 | NSD1 |
Rebecca Foulger gene: NSD1 was added gene: NSD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NSD1 were set to WEAVER SYNDROME |
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Fetal anomalies v0.1 | NRXN2 |
Rebecca Foulger gene: NRXN2 was added gene: NRXN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRXN2 were set to AUTISM |
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Fetal anomalies v0.1 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6 |
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Fetal anomalies v0.1 | NR5A1 |
Rebecca Foulger gene: NR5A1 was added gene: NR5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 |
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Fetal anomalies v0.1 | NR2F2 |
Rebecca Foulger gene: NR2F2 was added gene: NR2F2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 |
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Fetal anomalies v0.1 | NR2F1 |
Rebecca Foulger gene: NR2F1 was added gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME |
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Fetal anomalies v0.1 | NR0B1 |
Rebecca Foulger gene: NR0B1 was added gene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: NR0B1 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: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018 |
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Fetal anomalies v0.1 | NPR2 |
Rebecca Foulger gene: NPR2 was added gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE |
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Fetal anomalies v0.1 | NPHS2 |
Rebecca Foulger gene: NPHS2 was added gene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 |
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Fetal anomalies v0.1 | NPHS1 |
Rebecca Foulger gene: NPHS1 was added gene: NPHS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | NPHP4 |
Rebecca Foulger gene: NPHP4 was added gene: NPHP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4 |
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Fetal anomalies v0.1 | NPHP3 |
Rebecca Foulger gene: NPHP3 was added gene: NPHP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7 |
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Fetal anomalies v0.1 | NPHP1 |
Rebecca Foulger gene: NPHP1 was added gene: NPHP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | NPC2 |
Rebecca Foulger gene: NPC2 was added gene: NPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2 |
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Fetal anomalies v0.1 | NPC1 |
Rebecca Foulger gene: NPC1 was added gene: NPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1 |
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Fetal anomalies v0.1 | NOVA2 |
Rebecca Foulger gene: NOVA2 was added gene: NOVA2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity |
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Fetal anomalies v0.1 | NOTCH2 |
Rebecca Foulger gene: NOTCH2 was added gene: NOTCH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME |
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Fetal anomalies v0.1 | NOTCH1 |
Rebecca Foulger gene: NOTCH1 was added gene: NOTCH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION |
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Fetal anomalies v0.1 | NONO |
Rebecca Foulger gene: NONO was added gene: NONO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | NOG |
Rebecca Foulger gene: NOG was added gene: NOG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME |
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Fetal anomalies v0.1 | NODAL |
Rebecca Foulger gene: NODAL was added gene: NODAL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME |
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Fetal anomalies v0.1 | NMNAT1 |
Rebecca Foulger gene: NMNAT1 was added gene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS |
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Fetal anomalies v0.1 | NKX6-2 |
Rebecca Foulger gene: NKX6-2 was added gene: NKX6-2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination |
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Fetal anomalies v0.1 | NKX3-2 |
Rebecca Foulger gene: NKX3-2 was added gene: NKX3-2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA |
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Fetal anomalies v0.1 | NKX2-5 |
Rebecca Foulger gene: NKX2-5 was added gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS |
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Fetal anomalies v0.1 | NKX2-1 |
Rebecca Foulger gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA |
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Fetal anomalies v0.1 | NIPBL |
Rebecca Foulger gene: NIPBL was added gene: NIPBL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | NHS |
Rebecca Foulger gene: NHS was added gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME |
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Fetal anomalies v0.1 | NHP2 |
Rebecca Foulger gene: NHP2 was added gene: NHP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 |
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Fetal anomalies v0.1 | NHEJ1 |
Rebecca Foulger gene: NHEJ1 was added gene: NHEJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 |
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Fetal anomalies v0.1 | NGLY1 |
Rebecca Foulger gene: NGLY1 was added gene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION |
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Fetal anomalies v0.1 | NFU1 |
Rebecca Foulger gene: NFU1 was added gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 |
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Fetal anomalies v0.1 | NFIX |
Rebecca Foulger gene: NFIX was added gene: NFIX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME |
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Fetal anomalies v0.1 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME |
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Fetal anomalies v0.1 | NEXMIF |
Rebecca Foulger gene: NEXMIF was added gene: NEXMIF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEXMIF 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: NEXMIF were set to KIAA2022 |
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Fetal anomalies v0.1 | NEU1 |
Rebecca Foulger gene: NEU1 was added gene: NEU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEU1 were set to SIALIDOSIS |
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Fetal anomalies v0.1 | NEK9 |
Rebecca Foulger gene: NEK9 was added gene: NEK9 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619 Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10 617022 |
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Fetal anomalies v0.1 | NEK8 |
Rebecca Foulger gene: NEK8 was added gene: NEK8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9 |
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Fetal anomalies v0.1 | NEK1 |
Rebecca Foulger gene: NEK1 was added gene: NEK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II |
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Fetal anomalies v0.1 | NEDD4L |
Rebecca Foulger gene: NEDD4L was added gene: NEDD4L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly |
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Fetal anomalies v0.1 | NECTIN4 |
Rebecca Foulger gene: NECTIN4 was added gene: NECTIN4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 |
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Fetal anomalies v0.1 | NEB |
Rebecca Foulger gene: NEB was added gene: NEB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY |
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Fetal anomalies v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NDUFS7 |
Rebecca Foulger gene: NDUFS7 was added gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NDUFS4 |
Rebecca Foulger gene: NDUFS4 was added gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NDUFS1 |
Rebecca Foulger gene: NDUFS1 was added gene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME |
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Fetal anomalies v0.1 | NDUFB11 |
Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
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Fetal anomalies v0.1 | NDUFAF2 |
Rebecca Foulger gene: NDUFAF2 was added gene: NDUFAF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME |
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Fetal anomalies v0.1 | NDUFA10 |
Rebecca Foulger gene: NDUFA10 was added gene: NDUFA10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP |
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Fetal anomalies v0.1 | NDUFA1 |
Rebecca Foulger gene: NDUFA1 was added gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | NDP |
Rebecca Foulger gene: NDP was added gene: NDP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to NORRIE DISEASE |
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Fetal anomalies v0.1 | NDE1 |
Rebecca Foulger gene: NDE1 was added gene: NDE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4 |
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Fetal anomalies v0.1 | NBN |
Rebecca Foulger gene: NBN was added gene: NBN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME |
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Fetal anomalies v0.1 | NBAS |
Rebecca Foulger gene: NBAS was added gene: NBAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD |
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Fetal anomalies v0.1 | NAXE |
Rebecca Foulger gene: NAXE was added gene: NAXE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood |
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Fetal anomalies v0.1 | NANS |
Rebecca Foulger gene: NANS was added gene: NANS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia |
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Fetal anomalies v0.1 | NALCN |
Rebecca Foulger gene: NALCN was added gene: NALCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY |
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Fetal anomalies v0.1 | NAGS |
Rebecca Foulger gene: NAGS was added gene: NAGS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY |
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Fetal anomalies v0.1 | NAGLU |
Rebecca Foulger gene: NAGLU was added gene: NAGLU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B |
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Fetal anomalies v0.1 | NAGA |
Rebecca Foulger gene: NAGA was added gene: NAGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGA were set to KANZAKI DISEASE |
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Fetal anomalies v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay |
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Fetal anomalies v0.1 | NAA15 |
Rebecca Foulger gene: NAA15 was added gene: NAA15 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER |
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Fetal anomalies v0.1 | NAA10 |
Rebecca Foulger gene: NAA10 was added gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAA10 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: NAA10 were set to NONPECIFIC SEVERE ID |
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Fetal anomalies v0.1 | MYT1L |
Rebecca Foulger gene: MYT1L was added gene: MYT1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYT1L were set to MYT1L syndrome |
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Fetal anomalies v0.1 | MYT1 |
Rebecca Foulger gene: MYT1 was added gene: MYT1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYT1 were set to 28612832 Phenotypes for gene: MYT1 were set to Oculo-auriculo-vertebral spectrum (OAVS) |
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Fetal anomalies v0.1 | MYO7A |
Rebecca Foulger gene: MYO7A was added gene: MYO7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 |
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Fetal anomalies v0.1 | MYO5B |
Rebecca Foulger gene: MYO5B was added gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE |
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Fetal anomalies v0.1 | MYO5A |
Rebecca Foulger gene: MYO5A was added gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME |
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Fetal anomalies v0.1 | MYLK |
Rebecca Foulger gene: MYLK was added gene: MYLK was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome |
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Fetal anomalies v0.1 | MYH9 |
Rebecca Foulger gene: MYH9 was added gene: MYH9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 |
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Fetal anomalies v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT |
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Fetal anomalies v0.1 | MYH6 |
Rebecca Foulger gene: MYH6 was added gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 |
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Fetal anomalies v0.1 | MYH3 |
Rebecca Foulger gene: MYH3 was added gene: MYH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B |
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Fetal anomalies v0.1 | MYCN |
Rebecca Foulger gene: MYCN was added gene: MYCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | MYBPC1 |
Rebecca Foulger gene: MYBPC1 was added gene: MYBPC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYBPC1 were set to Arthrogryposis, distal, type 1B 614335 |
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Fetal anomalies v0.1 | MUT |
Rebecca Foulger gene: MUT was added gene: MUT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT |
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Fetal anomalies v0.1 | MUSK |
Rebecca Foulger gene: MUSK was added gene: MUSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence |
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Fetal anomalies v0.1 | MT-TP |
Rebecca Foulger gene: MT-TP was added gene: MT-TP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL Phenotypes for gene: MT-TP were set to MERRF |
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Fetal anomalies v0.1 | MTRR |
Rebecca Foulger gene: MTRR was added gene: MTRR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE |
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Fetal anomalies v0.1 | MTR |
Rebecca Foulger gene: MTR was added gene: MTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G |
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Fetal anomalies v0.1 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MTOR were set to Smith-Kingsmore syndrome |
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Fetal anomalies v0.1 | MTO1 |
Rebecca Foulger gene: MTO1 was added gene: MTO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS |
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Fetal anomalies v0.1 | MTM1 |
Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED |
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Fetal anomalies v0.1 | MTHFR |
Rebecca Foulger gene: MTHFR was added gene: MTHFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY |
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Fetal anomalies v0.1 | MSX2 |
Rebecca Foulger gene: MSX2 was added gene: MSX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM |
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Fetal anomalies v0.1 | MSX1 |
Rebecca Foulger gene: MSX1 was added gene: MSX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE |
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Fetal anomalies v0.1 | MSL3 |
Rebecca Foulger gene: MSL3 was added gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSL3 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: MSL3 were set to MSL3 syndrome |
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Fetal anomalies v0.1 | MSH6 |
Rebecca Foulger gene: MSH6 was added gene: MSH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300 |
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Fetal anomalies v0.1 | MSH2 |
Rebecca Foulger gene: MSH2 was added gene: MSH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome 276300 |
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Fetal anomalies v0.1 | MRPS34 |
Rebecca Foulger gene: MRPS34 was added gene: MRPS34 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
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Fetal anomalies v0.1 | MRPS22 |
Rebecca Foulger gene: MRPS22 was added gene: MRPS22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 |
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Fetal anomalies v0.1 | MRE11 |
Rebecca Foulger gene: MRE11 was added gene: MRE11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER |
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Fetal anomalies v0.1 | MPZ |
Rebecca Foulger gene: MPZ was added gene: MPZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease, dominant intermediate D 607791 |
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Fetal anomalies v0.1 | MPV17 |
Rebecca Foulger gene: MPV17 was added gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 |
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Fetal anomalies v0.1 | MPLKIP |
Rebecca Foulger gene: MPLKIP was added gene: MPLKIP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 |
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Fetal anomalies v0.1 | MPI |
Rebecca Foulger gene: MPI was added gene: MPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | MPDU1 |
Rebecca Foulger gene: MPDU1 was added gene: MPDU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | MOGS |
Rebecca Foulger gene: MOGS was added gene: MOGS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | MOCS2 |
Rebecca Foulger gene: MOCS2 was added gene: MOCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY |
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Fetal anomalies v0.1 | MOCS1 |
Rebecca Foulger gene: MOCS1 was added gene: MOCS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY |
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Fetal anomalies v0.1 | MNX1 |
Rebecca Foulger gene: MNX1 was added gene: MNX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME |
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Fetal anomalies v0.1 | MMP21 |
Rebecca Foulger gene: MMP21 was added gene: MMP21 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy |
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Fetal anomalies v0.1 | MMP13 |
Rebecca Foulger gene: MMP13 was added gene: MMP13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE |
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Fetal anomalies v0.1 | MMADHC |
Rebecca Foulger gene: MMADHC was added gene: MMADHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD |
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Fetal anomalies v0.1 | MMACHC |
Rebecca Foulger gene: MMACHC was added gene: MMACHC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE |
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Fetal anomalies v0.1 | MMAB |
Rebecca Foulger gene: MMAB was added gene: MMAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB |
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Fetal anomalies v0.1 | MMAA |
Rebecca Foulger gene: MMAA was added gene: MMAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA |
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Fetal anomalies v0.1 | MLYCD |
Rebecca Foulger gene: MLYCD was added gene: MLYCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY |
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Fetal anomalies v0.1 | MLH1 |
Rebecca Foulger gene: MLH1 was added gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300 |
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Fetal anomalies v0.1 | MLC1 |
Rebecca Foulger gene: MLC1 was added gene: MLC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS |
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Fetal anomalies v0.1 | MKS1 |
Rebecca Foulger gene: MKS1 was added gene: MKS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | MKKS |
Rebecca Foulger gene: MKKS was added gene: MKKS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME |
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Fetal anomalies v0.1 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM |
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Fetal anomalies v0.1 | MIR17HG |
Rebecca Foulger gene: MIR17HG was added gene: MIR17HG was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME |
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Fetal anomalies v0.1 | MID1 |
Rebecca Foulger gene: MID1 was added gene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED |
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Fetal anomalies v0.1 | MICU1 |
Rebecca Foulger gene: MICU1 was added gene: MICU1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS |
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Fetal anomalies v0.1 | MGP |
Rebecca Foulger gene: MGP was added gene: MGP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were set to KEUTEL SYNDROME |
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Fetal anomalies v0.1 | MGAT2 |
Rebecca Foulger gene: MGAT2 was added gene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A |
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Fetal anomalies v0.1 | MFSD8 |
Rebecca Foulger gene: MFSD8 was added gene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS |
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Fetal anomalies v0.1 | MFSD2A |
Rebecca Foulger gene: MFSD2A was added gene: MFSD2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | MFRP |
Rebecca Foulger gene: MFRP was added gene: MFRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2 |
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Fetal anomalies v0.1 | MESP2 |
Rebecca Foulger gene: MESP2 was added gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 |
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Fetal anomalies v0.1 | MEOX1 |
Rebecca Foulger gene: MEOX1 was added gene: MEOX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY |
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Fetal anomalies v0.1 | MEGF8 |
Rebecca Foulger gene: MEGF8 was added gene: MEGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME |
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Fetal anomalies v0.1 | MEGF10 |
Rebecca Foulger gene: MEGF10 was added gene: MEGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA |
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Fetal anomalies v0.1 | MEF2C |
Rebecca Foulger gene: MEF2C was added gene: MEF2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS |
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Fetal anomalies v0.1 | MED17 |
Rebecca Foulger gene: MED17 was added gene: MED17 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
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Fetal anomalies v0.1 | MED13L |
Rebecca Foulger gene: MED13L was added gene: MED13L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | MED12 |
Rebecca Foulger gene: MED12 was added gene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME |
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Fetal anomalies v0.1 | MECR |
Rebecca Foulger gene: MECR was added gene: MECR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy |
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Fetal anomalies v0.1 | MECP2 |
Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MECP2 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: MECP2 were set to RETT SYNDROME (RTT)[ |
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Fetal anomalies v0.1 | MECOM |
Rebecca Foulger gene: MECOM was added gene: MECOM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
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Fetal anomalies v0.1 | MDH2 |
Rebecca Foulger gene: MDH2 was added gene: MDH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy |
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Fetal anomalies v0.1 | MCPH1 |
Rebecca Foulger gene: MCPH1 was added gene: MCPH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 |
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Fetal anomalies v0.1 | MCOLN1 |
Rebecca Foulger gene: MCOLN1 was added gene: MCOLN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV |
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Fetal anomalies v0.1 | MCEE |
Rebecca Foulger gene: MCEE was added gene: MCEE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY |
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Fetal anomalies v0.1 | MCCC2 |
Rebecca Foulger gene: MCCC2 was added gene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY |
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Fetal anomalies v0.1 | MCCC1 |
Rebecca Foulger gene: MCCC1 was added gene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY |
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Fetal anomalies v0.1 | MC2R |
Rebecca Foulger gene: MC2R was added gene: MC2R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 |
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Fetal anomalies v0.1 | MBTPS2 |
Rebecca Foulger gene: MBTPS2 was added gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205 |
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Fetal anomalies v0.1 | MBOAT7 |
Rebecca Foulger gene: MBOAT7 was added gene: MBOAT7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
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Fetal anomalies v0.1 | MATN3 |
Rebecca Foulger gene: MATN3 was added gene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 |
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Fetal anomalies v0.1 | MAT1A |
Rebecca Foulger gene: MAT1A was added gene: MAT1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | MASP1 |
Rebecca Foulger gene: MASP1 was added gene: MASP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1 |
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Fetal anomalies v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type |
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Fetal anomalies v0.1 | MAP3K7 |
Rebecca Foulger gene: MAP3K7 was added gene: MAP3K7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome |
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Fetal anomalies v0.1 | MAP3K1 |
Rebecca Foulger gene: MAP3K1 was added gene: MAP3K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6 |
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Fetal anomalies v0.1 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME |
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Fetal anomalies v0.1 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME |
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Fetal anomalies v0.1 | MAOA |
Rebecca Foulger gene: MAOA was added gene: MAOA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to BRUNNER SYNDROME |
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Fetal anomalies v0.1 | MANBA |
Rebecca Foulger gene: MANBA was added gene: MANBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS |
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Fetal anomalies v0.1 | MAN2B1 |
Rebecca Foulger gene: MAN2B1 was added gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS |
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Fetal anomalies v0.1 | MAN1B1 |
Rebecca Foulger gene: MAN1B1 was added gene: MAN1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | MAMLD1 |
Rebecca Foulger gene: MAMLD1 was added gene: MAMLD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 |
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Fetal anomalies v0.1 | MAGEL2 |
Rebecca Foulger gene: MAGEL2 was added gene: MAGEL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome |
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Fetal anomalies v0.1 | MAFB |
Rebecca Foulger gene: MAFB was added gene: MAFB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
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Fetal anomalies v0.1 | MAF | Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED for gene: MAF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | MAF |
Rebecca Foulger gene: MAF was added gene: MAF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES |
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Fetal anomalies v0.1 | MAB21L2 |
Rebecca Foulger gene: MAB21L2 was added gene: MAB21L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14 |
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Fetal anomalies v0.1 | LZTFL1 |
Rebecca Foulger gene: LZTFL1 was added gene: LZTFL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 615994 |
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Fetal anomalies v0.1 | LYST |
Rebecca Foulger gene: LYST was added gene: LYST was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME |
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Fetal anomalies v0.1 | LTBP4 |
Rebecca Foulger gene: LTBP4 was added gene: LTBP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC 613177 |
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Fetal anomalies v0.1 | LTBP3 |
Rebecca Foulger gene: LTBP3 was added gene: LTBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA |
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Fetal anomalies v0.1 | LTBP2 |
Rebecca Foulger gene: LTBP2 was added gene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA |
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Fetal anomalies v0.1 | LRRC6 |
Rebecca Foulger gene: LRRC6 was added gene: LRRC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA |
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Fetal anomalies v0.1 | LRPPRC |
Rebecca Foulger gene: LRPPRC was added gene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE |
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Fetal anomalies v0.1 | LRP5 |
Rebecca Foulger gene: LRP5 was added gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT |
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Fetal anomalies v0.1 | LRP4 |
Rebecca Foulger gene: LRP4 was added gene: LRP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME |
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Fetal anomalies v0.1 | LRP2 |
Rebecca Foulger gene: LRP2 was added gene: LRP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP2 were set to DONNAI-BARROW SYNDROME |
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Fetal anomalies v0.1 | LRIT3 |
Rebecca Foulger gene: LRIT3 was added gene: LRIT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS |
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Fetal anomalies v0.1 | LRIG2 |
Rebecca Foulger gene: LRIG2 was added gene: LRIG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME |
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Fetal anomalies v0.1 | LRBA |
Rebecca Foulger gene: LRBA was added gene: LRBA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA |
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Fetal anomalies v0.1 | LRAT |
Rebecca Foulger gene: LRAT was added gene: LRAT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS |
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Fetal anomalies v0.1 | LONP1 |
Rebecca Foulger gene: LONP1 was added gene: LONP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LONP1 were set to CODAS SYNDROME |
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Fetal anomalies v0.1 | LMX1B |
Rebecca Foulger gene: LMX1B was added gene: LMX1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME |
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Fetal anomalies v0.1 | LMOD3 |
Rebecca Foulger gene: LMOD3 was added gene: LMOD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD3 were set to Nemaline myopathy 616165 |
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Fetal anomalies v0.1 | LMNA |
Rebecca Foulger gene: LMNA was added gene: LMNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A |
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Fetal anomalies v0.1 | LMBRD1 |
Rebecca Foulger gene: LMBRD1 was added gene: LMBRD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF |
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Fetal anomalies v0.1 | LMBR1 |
Rebecca Foulger gene: LMBR1 was added gene: LMBR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LMBR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMBR1 were set to Acheiropody 200500 |
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Fetal anomalies v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy |
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Fetal anomalies v0.1 | LIPT1 |
Rebecca Foulger gene: LIPT1 was added gene: LIPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. |
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Fetal anomalies v0.1 | LIPN |
Rebecca Foulger gene: LIPN was added gene: LIPN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 |
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Fetal anomalies v0.1 | LINS1 |
Rebecca Foulger gene: LINS1 was added gene: LINS1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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Fetal anomalies v0.1 | LIG4 |
Rebecca Foulger gene: LIG4 was added gene: LIG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to LIG4 SYNDROME |
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Fetal anomalies v0.1 | LIFR |
Rebecca Foulger gene: LIFR was added gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome |
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Fetal anomalies v0.1 | LIAS |
Rebecca Foulger gene: LIAS was added gene: LIAS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation |
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Fetal anomalies v0.1 | LHX4 |
Rebecca Foulger gene: LHX4 was added gene: LHX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY |
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Fetal anomalies v0.1 | LHX3 |
Rebecca Foulger gene: LHX3 was added gene: LHX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 |
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Fetal anomalies v0.1 | LGI4 |
Rebecca Foulger gene: LGI4 was added gene: LGI4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA |
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Fetal anomalies v0.1 | LFNG |
Rebecca Foulger gene: LFNG was added gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 |
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Fetal anomalies v0.1 | LEMD3 |
Rebecca Foulger gene: LEMD3 was added gene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME |
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Fetal anomalies v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 |
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Fetal anomalies v0.1 | LBR |
Rebecca Foulger gene: LBR was added gene: LBR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA |
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Fetal anomalies v0.1 | LARS2 |
Rebecca Foulger gene: LARS2 was added gene: LARS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME |
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Fetal anomalies v0.1 | LARP7 |
Rebecca Foulger gene: LARP7 was added gene: LARP7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME |
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Fetal anomalies v0.1 | LARGE1 |
Rebecca Foulger gene: LARGE1 was added gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 |
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Fetal anomalies v0.1 | LAMP2 |
Rebecca Foulger gene: LAMP2 was added gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to DANON DISEASE |
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Fetal anomalies v0.1 | LAMC3 |
Rebecca Foulger gene: LAMC3 was added gene: LAMC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS |
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Fetal anomalies v0.1 | LAMC2 |
Rebecca Foulger gene: LAMC2 was added gene: LAMC2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650 |
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Fetal anomalies v0.1 | LAMB3 |
Rebecca Foulger gene: LAMB3 was added gene: LAMB3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226700; Epidermolysis bullosa, junctional 226650 |
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Fetal anomalies v0.1 | LAMB1 |
Rebecca Foulger gene: LAMB1 was added gene: LAMB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES |
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Fetal anomalies v0.1 | LAMA3 |
Rebecca Foulger gene: LAMA3 was added gene: LAMA3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700 |
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Fetal anomalies v0.1 | LAMA2 |
Rebecca Foulger gene: LAMA2 was added gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY |
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Fetal anomalies v0.1 | LAMA1 |
Rebecca Foulger gene: LAMA1 was added gene: LAMA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY |
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Fetal anomalies v0.1 | L2HGDH |
Rebecca Foulger gene: L2HGDH was added gene: L2HGDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA |
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Fetal anomalies v0.1 | L1CAM |
Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME |
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Fetal anomalies v0.1 | KYNU |
Rebecca Foulger gene: KYNU was added gene: KYNU was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 28792876 Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2 617661 |
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Fetal anomalies v0.1 | KRT74 |
Rebecca Foulger gene: KRT74 was added gene: KRT74 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 |
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Fetal anomalies v0.1 | KRIT1 |
Rebecca Foulger gene: KRIT1 was added gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 |
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Fetal anomalies v0.1 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME |
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Fetal anomalies v0.1 | KPTN |
Rebecca Foulger gene: KPTN was added gene: KPTN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES |
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Fetal anomalies v0.1 | KMT5B |
Rebecca Foulger gene: KMT5B was added gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT5B were set to KMT5B syndrome |
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Fetal anomalies v0.1 | KMT2D |
Rebecca Foulger gene: KMT2D was added gene: KMT2D was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2D were set to KABUKI SYNDROME |
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Fetal anomalies v0.1 | KMT2C |
Rebecca Foulger gene: KMT2C was added gene: KMT2C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2C were set to 29276005 Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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Fetal anomalies v0.1 | KMT2A |
Rebecca Foulger gene: KMT2A was added gene: KMT2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME |
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Fetal anomalies v0.1 | KLHL7 |
Rebecca Foulger gene: KLHL7 was added gene: KLHL7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa |
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Fetal anomalies v0.1 | KLHL41 |
Rebecca Foulger gene: KLHL41 was added gene: KLHL41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy 615731 |
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Fetal anomalies v0.1 | KLHL40 |
Rebecca Foulger gene: KLHL40 was added gene: KLHL40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | KLF1 |
Rebecca Foulger gene: KLF1 was added gene: KLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV |
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Fetal anomalies v0.1 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIT were set to HUMAN PIEBALDISM |
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Fetal anomalies v0.1 | KISS1R |
Rebecca Foulger gene: KISS1R was added gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837 |
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Fetal anomalies v0.1 | KIF7 |
Rebecca Foulger gene: KIF7 was added gene: KIF7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME |
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Fetal anomalies v0.1 | KIF5C |
Rebecca Foulger gene: KIF5C was added gene: KIF5C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 |
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Fetal anomalies v0.1 | KIF2A |
Rebecca Foulger gene: KIF2A was added gene: KIF2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. |
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Fetal anomalies v0.1 | KIF22 |
Rebecca Foulger gene: KIF22 was added gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 |
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Fetal anomalies v0.1 | KIF1BP |
Rebecca Foulger gene: KIF1BP was added gene: KIF1BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME |
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Fetal anomalies v0.1 | KIF1A |
Rebecca Foulger gene: KIF1A was added gene: KIF1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 |
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Fetal anomalies v0.1 | KIF11 |
Rebecca Foulger gene: KIF11 was added gene: KIF11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY |
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Fetal anomalies v0.1 | KIDINS220 |
Rebecca Foulger gene: KIDINS220 was added gene: KIDINS220 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity. |
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Fetal anomalies v0.1 | KIAA1109 |
Rebecca Foulger gene: KIAA1109 was added gene: KIAA1109 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures |
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Fetal anomalies v0.1 | KIAA0586 |
Rebecca Foulger gene: KIAA0586 was added gene: KIAA0586 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME |
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Fetal anomalies v0.1 | KDM6A |
Rebecca Foulger gene: KDM6A was added gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KDM6A 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: KDM6A were set to KABUKI SYNDROME 2 |
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Fetal anomalies v0.1 | KDM5C |
Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED |
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Fetal anomalies v0.1 | KDM1A |
Rebecca Foulger gene: KDM1A was added gene: KDM1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features |
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Fetal anomalies v0.1 | KCTD7 |
Rebecca Foulger gene: KCTD7 was added gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS |
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Fetal anomalies v0.1 | KCTD1 |
Rebecca Foulger gene: KCTD1 was added gene: KCTD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME |
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Fetal anomalies v0.1 | KCNT1 |
Rebecca Foulger gene: KCNT1 was added gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY |
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Fetal anomalies v0.1 | KCNQ5 |
Rebecca Foulger gene: KCNQ5 was added gene: KCNQ5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy |
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Fetal anomalies v0.1 | KCNQ3 |
Rebecca Foulger gene: KCNQ3 was added gene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome |
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Fetal anomalies v0.1 | KCNQ2 |
Rebecca Foulger gene: KCNQ2 was added gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 |
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Fetal anomalies v0.1 | KCNQ1 |
Rebecca Foulger gene: KCNQ1 was added gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | KCNJ6 |
Rebecca Foulger gene: KCNJ6 was added gene: KCNJ6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME |
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Fetal anomalies v0.1 | KCNJ2 |
Rebecca Foulger gene: KCNJ2 was added gene: KCNJ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNJ2 were set to Andersen syndrome 170390 |
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Fetal anomalies v0.1 | KCNJ11 |
Rebecca Foulger gene: KCNJ11 was added gene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM |
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Fetal anomalies v0.1 | KCNJ10 |
Rebecca Foulger gene: KCNJ10 was added gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE |
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Fetal anomalies v0.1 | KCNJ1 |
Rebecca Foulger gene: KCNJ1 was added gene: KCNJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNJ1 were set to Bartter syndrome 241200 |
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Fetal anomalies v0.1 | KCNH1 |
Rebecca Foulger gene: KCNH1 was added gene: KCNH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME |
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Fetal anomalies v0.1 | KCNE1 |
Rebecca Foulger gene: KCNE1 was added gene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | KCNC3 |
Rebecca Foulger gene: KCNC3 was added gene: KCNC3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 |
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Fetal anomalies v0.1 | KCNC1 |
Rebecca Foulger gene: KCNC1 was added gene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 |
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Fetal anomalies v0.1 | KCNB1 |
Rebecca Foulger gene: KCNB1 was added gene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 |
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Fetal anomalies v0.1 | KCNA2 |
Rebecca Foulger gene: KCNA2 was added gene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY. |
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Fetal anomalies v0.1 | KBTBD13 |
Rebecca Foulger gene: KBTBD13 was added gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 |
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Fetal anomalies v0.1 | KAT6B |
Rebecca Foulger gene: KAT6B was added gene: KAT6B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE |
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Fetal anomalies v0.1 | KAT6A |
Rebecca Foulger gene: KAT6A was added gene: KAT6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 |
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Fetal anomalies v0.1 | KARS |
Rebecca Foulger gene: KARS was added gene: KARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B |
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Fetal anomalies v0.1 | KANSL1 |
Rebecca Foulger gene: KANSL1 was added gene: KANSL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME |
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Fetal anomalies v0.1 | JAM3 |
Rebecca Foulger gene: JAM3 was added gene: JAM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS |
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Fetal anomalies v0.1 | JAK3 |
Rebecca Foulger gene: JAK3 was added gene: JAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED |
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Fetal anomalies v0.1 | JAGN1 |
Rebecca Foulger gene: JAGN1 was added gene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA |
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Fetal anomalies v0.1 | JAG1 |
Rebecca Foulger gene: JAG1 was added gene: JAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME |
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Fetal anomalies v0.1 | IVD |
Rebecca Foulger gene: IVD was added gene: IVD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA |
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Fetal anomalies v0.1 | ITPR1 |
Rebecca Foulger gene: ITPR1 was added gene: ITPR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 |
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Fetal anomalies v0.1 | ITGB4 |
Rebecca Foulger gene: ITGB4 was added gene: ITGB4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730 |
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Fetal anomalies v0.1 | ITGA8 |
Rebecca Foulger gene: ITGA8 was added gene: ITGA8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1 |
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Fetal anomalies v0.1 | ITGA7 |
Rebecca Foulger gene: ITGA7 was added gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY |
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Fetal anomalies v0.1 | ITGA6 |
Rebecca Foulger gene: ITGA6 was added gene: ITGA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis Bullosa with Pyloric Atresia. 226730 |
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Fetal anomalies v0.1 | ITGA3 |
Rebecca Foulger gene: ITGA3 was added gene: ITGA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL |
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Fetal anomalies v0.1 | ITCH |
Rebecca Foulger gene: ITCH was added gene: ITCH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM |
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Fetal anomalies v0.1 | ISPD |
Rebecca Foulger gene: ISPD was added gene: ISPD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME |
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Fetal anomalies v0.1 | IRX5 |
Rebecca Foulger gene: IRX5 was added gene: IRX5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY |
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Fetal anomalies v0.1 | IRF6 |
Rebecca Foulger gene: IRF6 was added gene: IRF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME |
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Fetal anomalies v0.1 | IQSEC2 |
Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 |
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Fetal anomalies v0.1 | IQCB1 |
Rebecca Foulger gene: IQCB1 was added gene: IQCB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 609254 |
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Fetal anomalies v0.1 | INVS |
Rebecca Foulger gene: INVS was added gene: INVS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2 602088 |
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Fetal anomalies v0.1 | INSR |
Rebecca Foulger gene: INSR was added gene: INSR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549 |
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Fetal anomalies v0.1 | INPPL1 |
Rebecca Foulger gene: INPPL1 was added gene: INPPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA |
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Fetal anomalies v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability |
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Fetal anomalies v0.1 | INPP5E |
Rebecca Foulger gene: INPP5E was added gene: INPP5E was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS |
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Fetal anomalies v0.1 | IMPAD1 |
Rebecca Foulger gene: IMPAD1 was added gene: IMPAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE |
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Fetal anomalies v0.1 | IL1RAPL1 |
Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 |
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Fetal anomalies v0.1 | IL17RD |
Rebecca Foulger gene: IL17RD was added gene: IL17RD was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: IL17RD was set to Unknown Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267 |
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Fetal anomalies v0.1 | IL11RA |
Rebecca Foulger gene: IL11RA was added gene: IL11RA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis |
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Fetal anomalies v0.1 | IKBKG |
Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA |
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Fetal anomalies v0.1 | IHH |
Rebecca Foulger gene: IHH was added gene: IHH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 |
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Fetal anomalies v0.1 | IGSF1 |
Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT |
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Fetal anomalies v0.1 | IGHMBP2 |
Rebecca Foulger gene: IGHMBP2 was added gene: IGHMBP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 |
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Fetal anomalies v0.1 | IGFBP7 |
Rebecca Foulger gene: IGFBP7 was added gene: IGFBP7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS |
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Fetal anomalies v0.1 | IGF2 |
Rebecca Foulger gene: IGF2 was added gene: IGF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME |
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Fetal anomalies v0.1 | IGF1R |
Rebecca Foulger gene: IGF1R was added gene: IGF1R was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO |
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Fetal anomalies v0.1 | IGF1 |
Rebecca Foulger gene: IGF1 was added gene: IGF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY |
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Fetal anomalies v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 |
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Fetal anomalies v0.1 | IFT43 |
Rebecca Foulger gene: IFT43 was added gene: IFT43 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 |
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Fetal anomalies v0.1 | IFT172 |
Rebecca Foulger gene: IFT172 was added gene: IFT172 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME |
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Fetal anomalies v0.1 | IFT140 |
Rebecca Foulger gene: IFT140 was added gene: IFT140 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME |
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Fetal anomalies v0.1 | IFT122 |
Rebecca Foulger gene: IFT122 was added gene: IFT122 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA |
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Fetal anomalies v0.1 | IFITM5 |
Rebecca Foulger gene: IFITM5 was added gene: IFITM5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V |
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Fetal anomalies v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 |
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Fetal anomalies v0.1 | IER3IP1 |
Rebecca Foulger gene: IER3IP1 was added gene: IER3IP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome 614231 |
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Fetal anomalies v0.1 | IDUA |
Rebecca Foulger gene: IDUA was added gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S |
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Fetal anomalies v0.1 | IDS |
Rebecca Foulger gene: IDS was added gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 |
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Fetal anomalies v0.1 | IARS |
Rebecca Foulger gene: IARS was added gene: IARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy |
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Fetal anomalies v0.1 | HYLS1 |
Rebecca Foulger gene: HYLS1 was added gene: HYLS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | HYDIN |
Rebecca Foulger gene: HYDIN was added gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 |
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Fetal anomalies v0.1 | HYAL1 |
Rebecca Foulger gene: HYAL1 was added gene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 |
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Fetal anomalies v0.1 | HUWE1 |
Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE |
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Fetal anomalies v0.1 | HSPG2 |
Rebecca Foulger gene: HSPG2 was added gene: HSPG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME |
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Fetal anomalies v0.1 | HSPD1 |
Rebecca Foulger gene: HSPD1 was added gene: HSPD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4 |
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Fetal anomalies v0.1 | HSF4 |
Rebecca Foulger gene: HSF4 was added gene: HSF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE |
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Fetal anomalies v0.1 | HSD3B7 |
Rebecca Foulger gene: HSD3B7 was added gene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
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Fetal anomalies v0.1 | HSD17B4 |
Rebecca Foulger gene: HSD17B4 was added gene: HSD17B4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME |
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Fetal anomalies v0.1 | HSD17B3 |
Rebecca Foulger gene: HSD17B3 was added gene: HSD17B3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia 264300 |
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Fetal anomalies v0.1 | HSD17B10 |
Rebecca Foulger gene: HSD17B10 was added gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HRAS were set to COSTELLO SYNDROME |
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Fetal anomalies v0.1 | HR |
Rebecca Foulger gene: HR was added gene: HR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS |
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Fetal anomalies v0.1 | HPSE2 |
Rebecca Foulger gene: HPSE2 was added gene: HPSE2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME |
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Fetal anomalies v0.1 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME |
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Fetal anomalies v0.1 | HPRT1 |
Rebecca Foulger gene: HPRT1 was added gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED |
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Fetal anomalies v0.1 | HPGD |
Rebecca Foulger gene: HPGD was added gene: HPGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY |
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Fetal anomalies v0.1 | HPD |
Rebecca Foulger gene: HPD was added gene: HPD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to HAWKINSINURIA |
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Fetal anomalies v0.1 | HOXD13 |
Rebecca Foulger gene: HOXD13 was added gene: HOXD13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION |
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Fetal anomalies v0.1 | HOXC13 |
Rebecca Foulger gene: HOXC13 was added gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA |
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Fetal anomalies v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 |
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Fetal anomalies v0.1 | HOXA13 |
Rebecca Foulger gene: HOXA13 was added gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME |
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Fetal anomalies v0.1 | HOXA1 |
Rebecca Foulger gene: HOXA1 was added gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME |
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Fetal anomalies v0.1 | HNRNPU |
Rebecca Foulger gene: HNRNPU was added gene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | HNRNPH2 |
Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HNRNPH2 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: HNRNPH2 were set to Neurodevelopmental Disorder in Females |
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Fetal anomalies v0.1 | HNF4A |
Rebecca Foulger gene: HNF4A was added gene: HNF4A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 |
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Fetal anomalies v0.1 | HNF1B |
Rebecca Foulger gene: HNF1B was added gene: HNF1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME |
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Fetal anomalies v0.1 | HMX1 |
Rebecca Foulger gene: HMX1 was added gene: HMX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME |
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Fetal anomalies v0.1 | HMGCS2 |
Rebecca Foulger gene: HMGCS2 was added gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY |
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Fetal anomalies v0.1 | HMGCL |
Rebecca Foulger gene: HMGCL was added gene: HMGCL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY |
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Fetal anomalies v0.1 | HLCS |
Rebecca Foulger gene: HLCS was added gene: HLCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY |
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Fetal anomalies v0.1 | HIVEP2 |
Rebecca Foulger gene: HIVEP2 was added gene: HIVEP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability |
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Fetal anomalies v0.1 | HIST1H4C |
Rebecca Foulger gene: HIST1H4C was added gene: HIST1H4C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H4C were set to HIST1H4C |
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Fetal anomalies v0.1 | HIST1H1E |
Rebecca Foulger gene: HIST1H1E was added gene: HIST1H1E was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HIST1H1E were set to Childhood overgrowth |
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Fetal anomalies v0.1 | HINT1 |
Rebecca Foulger gene: HINT1 was added gene: HINT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | HIBCH |
Rebecca Foulger gene: HIBCH was added gene: HIBCH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY |
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Fetal anomalies v0.1 | HGSNAT |
Rebecca Foulger gene: HGSNAT was added gene: HGSNAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C |
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Fetal anomalies v0.1 | HEXB |
Rebecca Foulger gene: HEXB was added gene: HEXB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 |
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Fetal anomalies v0.1 | HEXA |
Rebecca Foulger gene: HEXA was added gene: HEXA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 |
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Fetal anomalies v0.1 | HESX1 |
Rebecca Foulger gene: HESX1 was added gene: HESX1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA |
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Fetal anomalies v0.1 | HES7 |
Rebecca Foulger gene: HES7 was added gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686 |
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Fetal anomalies v0.1 | HECW2 |
Rebecca Foulger gene: HECW2 was added gene: HECW2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HECW2 were set to HECW2 |
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Fetal anomalies v0.1 | HDAC8 |
Rebecca Foulger gene: HDAC8 was added gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 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: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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Fetal anomalies v0.1 | HDAC4 |
Rebecca Foulger gene: HDAC4 was added gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | HCN1 |
Rebecca Foulger gene: HCN1 was added gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 |
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Fetal anomalies v0.1 | HCFC1 |
Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 |
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Fetal anomalies v0.1 | HCCS |
Rebecca Foulger gene: HCCS was added gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCCS 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: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7 |
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Fetal anomalies v0.1 | HAX1 |
Rebecca Foulger gene: HAX1 was added gene: HAX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | HADHA |
Rebecca Foulger gene: HADHA was added gene: HADHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | HADH |
Rebecca Foulger gene: HADH was added gene: HADH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | HACE1 |
Rebecca Foulger gene: HACE1 was added gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to HACE1 related disorder |
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Fetal anomalies v0.1 | HAAO |
Rebecca Foulger gene: HAAO was added gene: HAAO was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 28792876 Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660 |
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Fetal anomalies v0.1 | H3F3A |
Rebecca Foulger gene: H3F3A was added gene: H3F3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders |
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Fetal anomalies v0.1 | H19 |
Rebecca Foulger gene: H19 was added gene: H19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650 |
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Fetal anomalies v0.1 | GZF1 |
Rebecca Foulger gene: GZF1 was added gene: GZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GZF1 were set to LARSEN SYNDROME |
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Fetal anomalies v0.1 | GUSB |
Rebecca Foulger gene: GUSB was added gene: GUSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 |
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Fetal anomalies v0.1 | GUCY2C |
Rebecca Foulger gene: GUCY2C was added gene: GUCY2C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS |
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Fetal anomalies v0.1 | GTPBP3 |
Rebecca Foulger gene: GTPBP3 was added gene: GTPBP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY |
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Fetal anomalies v0.1 | GTF2H5 |
Rebecca Foulger gene: GTF2H5 was added gene: GTF2H5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE |
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Fetal anomalies v0.1 | GTF2E2 |
Rebecca Foulger gene: GTF2E2 was added gene: GTF2E2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy |
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Fetal anomalies v0.1 | GSPT2 |
Rebecca Foulger gene: GSPT2 was added gene: GSPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | GRM6 |
Rebecca Foulger gene: GRM6 was added gene: GRM6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B |
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Fetal anomalies v0.1 | GRM1 |
Rebecca Foulger gene: GRM1 was added gene: GRM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA |
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Fetal anomalies v0.1 | GRIP1 |
Rebecca Foulger gene: GRIP1 was added gene: GRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000 |
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Fetal anomalies v0.1 | GRIN2D |
Rebecca Foulger gene: GRIN2D was added gene: GRIN2D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers |
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Fetal anomalies v0.1 | GRIN2B |
Rebecca Foulger gene: GRIN2B was added gene: GRIN2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2B were set to AUTISM |
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Fetal anomalies v0.1 | GRIN2A |
Rebecca Foulger gene: GRIN2A was added gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS |
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Fetal anomalies v0.1 | GRIN1 |
Rebecca Foulger gene: GRIN1 was added gene: GRIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | GRIK2 |
Rebecca Foulger gene: GRIK2 was added gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 |
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Fetal anomalies v0.1 | GRIA3 |
Rebecca Foulger gene: GRIA3 was added gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 |
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Fetal anomalies v0.1 | GRHL3 |
Rebecca Foulger gene: GRHL3 was added gene: GRHL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME |
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Fetal anomalies v0.1 | GRHL2 |
Rebecca Foulger gene: GRHL2 was added gene: GRHL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME |
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Fetal anomalies v0.1 | GPX4 |
Rebecca Foulger gene: GPX4 was added gene: GPX4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE |
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Fetal anomalies v0.1 | GPSM2 |
Rebecca Foulger gene: GPSM2 was added gene: GPSM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME |
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Fetal anomalies v0.1 | GPKOW |
Rebecca Foulger gene: GPKOW was added gene: GPKOW was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPKOW were set to 28612833 Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction |
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Fetal anomalies v0.1 | GPI |
Rebecca Foulger gene: GPI was added gene: GPI was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 613470 |
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Fetal anomalies v0.1 | GPC6 |
Rebecca Foulger gene: GPC6 was added gene: GPC6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [ |
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Fetal anomalies v0.1 | GPC3 |
Rebecca Foulger gene: GPC3 was added gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 |
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Fetal anomalies v0.1 | GPAA1 |
Rebecca Foulger gene: GPAA1 was added gene: GPAA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia |
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Fetal anomalies v0.1 | GORAB |
Rebecca Foulger gene: GORAB was added gene: GORAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum |
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Fetal anomalies v0.1 | GNS |
Rebecca Foulger gene: GNS was added gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D |
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Fetal anomalies v0.1 | GNPTG |
Rebecca Foulger gene: GNPTG was added gene: GNPTG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C |
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Fetal anomalies v0.1 | GNPTAB |
Rebecca Foulger gene: GNPTAB was added gene: GNPTAB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II |
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Fetal anomalies v0.1 | GNPAT |
Rebecca Foulger gene: GNPAT was added gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 |
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Fetal anomalies v0.1 | GNB5 |
Rebecca Foulger gene: GNB5 was added gene: GNB5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability |
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Fetal anomalies v0.1 | GNB1 |
Rebecca Foulger gene: GNB1 was added gene: GNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures |
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Fetal anomalies v0.1 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B |
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Fetal anomalies v0.1 | GNAQ |
Rebecca Foulger gene: GNAQ was added gene: GNAQ was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAQ were set to Congenital Hemangioma |
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Fetal anomalies v0.1 | GNAO1 |
Rebecca Foulger gene: GNAO1 was added gene: GNAO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | GNAI3 |
Rebecca Foulger gene: GNAI3 was added gene: GNAI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME |
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Fetal anomalies v0.1 | GNAI1 |
Rebecca Foulger gene: GNAI1 was added gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome |
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Fetal anomalies v0.1 | GNA14 |
Rebecca Foulger gene: GNA14 was added gene: GNA14 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA14 were set to Congenital vascular tumours |
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Fetal anomalies v0.1 | GNA11 |
Rebecca Foulger gene: GNA11 was added gene: GNA11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNA11 were set to Congenital Hemangioma |
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Fetal anomalies v0.1 | GMPPB |
Rebecca Foulger gene: GMPPB was added gene: GMPPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 |
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Fetal anomalies v0.1 | GMPPA |
Rebecca Foulger gene: GMPPA was added gene: GMPPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION |
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Fetal anomalies v0.1 | GMNN |
Rebecca Foulger gene: GMNN was added gene: GMNN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome |
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Fetal anomalies v0.1 | GM2A |
Rebecca Foulger gene: GM2A was added gene: GM2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB |
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Fetal anomalies v0.1 | GLUL |
Rebecca Foulger gene: GLUL was added gene: GLUL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY |
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Fetal anomalies v0.1 | GLUD1 |
Rebecca Foulger gene: GLUD1 was added gene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME |
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Fetal anomalies v0.1 | GLMN |
Rebecca Foulger gene: GLMN was added gene: GLMN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS |
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Fetal anomalies v0.1 | GLIS3 |
Rebecca Foulger gene: GLIS3 was added gene: GLIS3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM |
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Fetal anomalies v0.1 | GLIS2 |
Rebecca Foulger gene: GLIS2 was added gene: GLIS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 |
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Fetal anomalies v0.1 | GLI3 |
Rebecca Foulger gene: GLI3 was added gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME |
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Fetal anomalies v0.1 | GLI2 |
Rebecca Foulger gene: GLI2 was added gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY |
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Fetal anomalies v0.1 | GLE1 |
Rebecca Foulger gene: GLE1 was added gene: GLE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE |
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Fetal anomalies v0.1 | GLDN |
Rebecca Foulger gene: GLDN was added gene: GLDN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDN were set to Lethal arthroogryposis |
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Fetal anomalies v0.1 | GLDC |
Rebecca Foulger gene: GLDC was added gene: GLDC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY |
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Fetal anomalies v0.1 | GLB1 |
Rebecca Foulger gene: GLB1 was added gene: GLB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B |
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Fetal anomalies v0.1 | GK |
Rebecca Foulger gene: GK was added gene: GK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY |
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Fetal anomalies v0.1 | GJC2 |
Rebecca Foulger gene: GJC2 was added gene: GJC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC |
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Fetal anomalies v0.1 | GJB2 |
Rebecca Foulger gene: GJB2 was added gene: GJB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A |
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Fetal anomalies v0.1 | GJA8 |
Rebecca Foulger gene: GJA8 was added gene: GJA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 |
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Fetal anomalies v0.1 | GJA3 |
Rebecca Foulger gene: GJA3 was added gene: GJA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 |
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Fetal anomalies v0.1 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME |
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Fetal anomalies v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to PITUITARY DWARFISM II |
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Fetal anomalies v0.1 | GFM1 |
Rebecca Foulger gene: GFM1 was added gene: GFM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 |
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Fetal anomalies v0.1 | GFAP |
Rebecca Foulger gene: GFAP was added gene: GFAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GFAP were set to ALEXANDER DISEASE |
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Fetal anomalies v0.1 | GDI1 |
Rebecca Foulger gene: GDI1 was added gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 |
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Fetal anomalies v0.1 | GDF6 |
Rebecca Foulger gene: GDF6 was added gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | GDF5 |
Rebecca Foulger gene: GDF5 was added gene: GDF5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE |
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Fetal anomalies v0.1 | GCH1 |
Rebecca Foulger gene: GCH1 was added gene: GCH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY |
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Fetal anomalies v0.1 | GCDH |
Rebecca Foulger gene: GCDH was added gene: GCDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 |
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Fetal anomalies v0.1 | GBE1 |
Rebecca Foulger gene: GBE1 was added gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Glycogen storage disease IV |
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Fetal anomalies v0.1 | GBA2 |
Rebecca Foulger gene: GBA2 was added gene: GBA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. |
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Fetal anomalies v0.1 | GBA |
Rebecca Foulger gene: GBA was added gene: GBA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1 |
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Fetal anomalies v0.1 | GATM |
Rebecca Foulger gene: GATM was added gene: GATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | GATAD2B |
Rebecca Foulger gene: GATAD2B was added gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID |
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Fetal anomalies v0.1 | GATA6 |
Rebecca Foulger gene: GATA6 was added gene: GATA6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 |
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Fetal anomalies v0.1 | GATA4 |
Rebecca Foulger gene: GATA4 was added gene: GATA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2 |
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Fetal anomalies v0.1 | GATA2 |
Rebecca Foulger gene: GATA2 was added gene: GATA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME |
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Fetal anomalies v0.1 | GAS8 |
Rebecca Foulger gene: GAS8 was added gene: GAS8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.1 | GAMT |
Rebecca Foulger gene: GAMT was added gene: GAMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | GALT |
Rebecca Foulger gene: GALT was added gene: GALT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to GALACTOSEMIA |
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Fetal anomalies v0.1 | GALNS |
Rebecca Foulger gene: GALNS was added gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A |
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Fetal anomalies v0.1 | GALK1 |
Rebecca Foulger gene: GALK1 was added gene: GALK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to GALACTOSEMIA II |
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Fetal anomalies v0.1 | GALE |
Rebecca Foulger gene: GALE was added gene: GALE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA |
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Fetal anomalies v0.1 | GALC |
Rebecca Foulger gene: GALC was added gene: GALC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to KRABBE DISEASE |
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Fetal anomalies v0.1 | GABRG2 |
Rebecca Foulger gene: GABRG2 was added gene: GABRG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 |
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Fetal anomalies v0.1 | GABRB3 |
Rebecca Foulger gene: GABRB3 was added gene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 |
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Fetal anomalies v0.1 | GABRB2 |
Rebecca Foulger gene: GABRB2 was added gene: GABRB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | GABRA1 |
Rebecca Foulger gene: GABRA1 was added gene: GABRA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY |
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Fetal anomalies v0.1 | GAA |
Rebecca Foulger gene: GAA was added gene: GAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II |
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Fetal anomalies v0.1 | G6PC3 |
Rebecca Foulger gene: G6PC3 was added gene: G6PC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC3 were set to Dursun syndrome |
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Fetal anomalies v0.1 | FZD6 |
Rebecca Foulger gene: FZD6 was added gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 |
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Fetal anomalies v0.1 | FZD5 |
Rebecca Foulger gene: FZD5 was added gene: FZD5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma |
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Fetal anomalies v0.1 | FYCO1 |
Rebecca Foulger gene: FYCO1 was added gene: FYCO1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 |
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Fetal anomalies v0.1 | FUZ |
Rebecca Foulger gene: FUZ was added gene: FUZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FUZ was set to Unknown Phenotypes for gene: FUZ were set to Neural tube defects 182940 |
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Fetal anomalies v0.1 | FUCA1 |
Rebecca Foulger gene: FUCA1 was added gene: FUCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS |
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Fetal anomalies v0.1 | FTSJ1 |
Rebecca Foulger gene: FTSJ1 was added gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 |
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Fetal anomalies v0.1 | FTL |
Rebecca Foulger gene: FTL was added gene: FTL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME |
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Fetal anomalies v0.1 | FTCD |
Rebecca Foulger gene: FTCD was added gene: FTCD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY |
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Fetal anomalies v0.1 | FRRS1L |
Rebecca Foulger gene: FRRS1L was added gene: FRRS1L was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep |
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Fetal anomalies v0.1 | FRMPD4 |
Rebecca Foulger gene: FRMPD4 was added gene: FRMPD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMPD4 were set to Intellectual Disability |
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Fetal anomalies v0.1 | FRMD7 |
Rebecca Foulger gene: FRMD7 was added gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED |
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Fetal anomalies v0.1 | FREM2 |
Rebecca Foulger gene: FREM2 was added gene: FREM2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM2 were set to FRASER SYNDROME |
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Fetal anomalies v0.1 | FREM1 |
Rebecca Foulger gene: FREM1 was added gene: FREM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME |
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Fetal anomalies v0.1 | FRAS1 |
Rebecca Foulger gene: FRAS1 was added gene: FRAS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FRAS1 were set to FRASER SYNDROME |
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Fetal anomalies v0.1 | FOXRED1 |
Rebecca Foulger gene: FOXRED1 was added gene: FOXRED1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | FOXP3 |
Rebecca Foulger gene: FOXP3 was added gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to IPEX SYNDROME |
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Fetal anomalies v0.1 | FOXP2 |
Rebecca Foulger gene: FOXP2 was added gene: FOXP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1 |
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Fetal anomalies v0.1 | FOXP1 |
Rebecca Foulger gene: FOXP1 was added gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
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Fetal anomalies v0.1 | FOXN1 |
Rebecca Foulger gene: FOXN1 was added gene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY |
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Fetal anomalies v0.1 | FOXL2 |
Rebecca Foulger gene: FOXL2 was added gene: FOXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME |
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Fetal anomalies v0.1 | FOXG1 |
Rebecca Foulger gene: FOXG1 was added gene: FOXG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME |
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Fetal anomalies v0.1 | FOXF1 |
Rebecca Foulger gene: FOXF1 was added gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS |
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Fetal anomalies v0.1 | FOXE3 |
Rebecca Foulger gene: FOXE3 was added gene: FOXE3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA |
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Fetal anomalies v0.1 | FOXE1 |
Rebecca Foulger gene: FOXE1 was added gene: FOXE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME |
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Fetal anomalies v0.1 | FOXC2 |
Rebecca Foulger gene: FOXC2 was added gene: FOXC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME |
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Fetal anomalies v0.1 | FOXC1 |
Rebecca Foulger gene: FOXC1 was added gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | FOLR1 |
Rebecca Foulger gene: FOLR1 was added gene: FOLR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY |
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Fetal anomalies v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures |
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Fetal anomalies v0.1 | FMR1 |
Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FMR1 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: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME |
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Fetal anomalies v0.1 | FMN2 |
Rebecca Foulger gene: FMN2 was added gene: FMN2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | FLVCR2 |
Rebecca Foulger gene: FLVCR2 was added gene: FLVCR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME |
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Fetal anomalies v0.1 | FLVCR1 |
Rebecca Foulger gene: FLVCR1 was added gene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA |
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Fetal anomalies v0.1 | FLT4 |
Rebecca Foulger gene: FLT4 was added gene: FLT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FLT4 were set to MILROY DISEASE |
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Fetal anomalies v0.1 | FLRT3 |
Rebecca Foulger gene: FLRT3 was added gene: FLRT3 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FLRT3 was set to Unknown Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271 |
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Fetal anomalies v0.1 | FLNB |
Rebecca Foulger gene: FLNB was added gene: FLNB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME |
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Fetal anomalies v0.1 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNA 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: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | FLAD1 |
Rebecca Foulger gene: FLAD1 was added gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. |
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Fetal anomalies v0.1 | FKTN |
Rebecca Foulger gene: FKTN was added gene: FKTN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 |
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Fetal anomalies v0.1 | FKRP |
Rebecca Foulger gene: FKRP was added gene: FKRP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 |
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Fetal anomalies v0.1 | FKBP14 |
Rebecca Foulger gene: FKBP14 was added gene: FKBP14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS |
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Fetal anomalies v0.1 | FIG4 |
Rebecca Foulger gene: FIG4 was added gene: FIG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J |
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Fetal anomalies v0.1 | FHL1 |
Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED |
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Fetal anomalies v0.1 | FH |
Rebecca Foulger gene: FH was added gene: FH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY |
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Fetal anomalies v0.1 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME |
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Fetal anomalies v0.1 | FGFR2 |
Rebecca Foulger gene: FGFR2 was added gene: FGFR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME |
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Fetal anomalies v0.1 | FGFR1 |
Rebecca Foulger gene: FGFR1 was added gene: FGFR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA |
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Fetal anomalies v0.1 | FGF9 |
Rebecca Foulger gene: FGF9 was added gene: FGF9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | FGF8 |
Rebecca Foulger gene: FGF8 was added gene: FGF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia 612702 |
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Fetal anomalies v0.1 | FGF3 |
Rebecca Foulger gene: FGF3 was added gene: FGF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA |
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Fetal anomalies v0.1 | FGF17 |
Rebecca Foulger gene: FGF17 was added gene: FGF17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FGF17 was set to Unknown Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270 |
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Fetal anomalies v0.1 | FGF12 |
Rebecca Foulger gene: FGF12 was added gene: FGF12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | FGF10 |
Rebecca Foulger gene: FGF10 was added gene: FGF10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGF10 were set to LADD SYNDROME |
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Fetal anomalies v0.1 | FGD4 |
Rebecca Foulger gene: FGD4 was added gene: FGD4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311 |
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Fetal anomalies v0.1 | FGD1 |
Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME |
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Fetal anomalies v0.1 | FEZF1 |
Rebecca Foulger gene: FEZF1 was added gene: FEZF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA |
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Fetal anomalies v0.1 | FBXL4 |
Rebecca Foulger gene: FBXL4 was added gene: FBXL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE |
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Fetal anomalies v0.1 | FBP1 |
Rebecca Foulger gene: FBP1 was added gene: FBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY |
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Fetal anomalies v0.1 | FBN2 |
Rebecca Foulger gene: FBN2 was added gene: FBN2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY |
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Fetal anomalies v0.1 | FBN1 |
Rebecca Foulger gene: FBN1 was added gene: FBN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FBN1 were set to MARFAN SYNDROME |
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Fetal anomalies v0.1 | FBLN5 |
Rebecca Foulger gene: FBLN5 was added gene: FBLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN5 were set to Cutis laxa 614434; Cutis laxa 219100 |
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Fetal anomalies v0.1 | FAT4 |
Rebecca Foulger gene: FAT4 was added gene: FAT4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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Fetal anomalies v0.1 | FAR1 |
Rebecca Foulger gene: FAR1 was added gene: FAR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS |
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Fetal anomalies v0.1 | FANCM |
Rebecca Foulger gene: FANCM was added gene: FANCM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCM were set to FANCONI ANEMIA |
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Fetal anomalies v0.1 | FANCL |
Rebecca Foulger gene: FANCL was added gene: FANCL was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA |
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Fetal anomalies v0.1 | FANCI |
Rebecca Foulger gene: FANCI was added gene: FANCI was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA |
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Fetal anomalies v0.1 | FANCG |
Rebecca Foulger gene: FANCG was added gene: FANCG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G |
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Fetal anomalies v0.1 | FANCF |
Rebecca Foulger gene: FANCF was added gene: FANCF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F |
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Fetal anomalies v0.1 | FANCE |
Rebecca Foulger gene: FANCE was added gene: FANCE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E |
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Fetal anomalies v0.1 | FANCD2 |
Rebecca Foulger gene: FANCD2 was added gene: FANCD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
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Fetal anomalies v0.1 | FANCC |
Rebecca Foulger gene: FANCC was added gene: FANCC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C |
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Fetal anomalies v0.1 | FANCB |
Rebecca Foulger gene: FANCB was added gene: FANCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA |
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Fetal anomalies v0.1 | FANCA |
Rebecca Foulger gene: FANCA was added gene: FANCA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A |
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Fetal anomalies v0.1 | FAM20C |
Rebecca Foulger gene: FAM20C was added gene: FAM20C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20C were set to RAINE SYNDROME |
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Fetal anomalies v0.1 | FAM20A |
Rebecca Foulger gene: FAM20A was added gene: FAM20A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME |
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Fetal anomalies v0.1 | FAM161A |
Rebecca Foulger gene: FAM161A was added gene: FAM161A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 |
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Fetal anomalies v0.1 | FAM126A |
Rebecca Foulger gene: FAM126A was added gene: FAM126A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5 |
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Fetal anomalies v0.1 | FAM111A |
Rebecca Foulger gene: FAM111A was added gene: FAM111A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME |
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Fetal anomalies v0.1 | FAH |
Rebecca Foulger gene: FAH was added gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 |
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Fetal anomalies v0.1 | EZH2 |
Rebecca Foulger gene: EZH2 was added gene: EZH2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 |
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Fetal anomalies v0.1 | EYA1 |
Rebecca Foulger gene: EYA1 was added gene: EYA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | EXT2 |
Rebecca Foulger gene: EXT2 was added gene: EXT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2 |
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Fetal anomalies v0.1 | EXT1 |
Rebecca Foulger gene: EXT1 was added gene: EXT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 |
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Fetal anomalies v0.1 | EXPH5 |
Rebecca Foulger gene: EXPH5 was added gene: EXPH5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY |
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Fetal anomalies v0.1 | EXOSC3 |
Rebecca Foulger gene: EXOSC3 was added gene: EXOSC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 |
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Fetal anomalies v0.1 | EVC2 |
Rebecca Foulger gene: EVC2 was added gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME |
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Fetal anomalies v0.1 | EVC |
Rebecca Foulger gene: EVC was added gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE |
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Fetal anomalies v0.1 | ETHE1 |
Rebecca Foulger gene: ETHE1 was added gene: ETHE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | ETFDH |
Rebecca Foulger gene: ETFDH was added gene: ETFDH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C |
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Fetal anomalies v0.1 | ETFB |
Rebecca Foulger gene: ETFB was added gene: ETFB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B |
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Fetal anomalies v0.1 | ETFA |
Rebecca Foulger gene: ETFA was added gene: ETFA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A |
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Fetal anomalies v0.1 | ESCO2 |
Rebecca Foulger gene: ESCO2 was added gene: ESCO2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME |
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Fetal anomalies v0.1 | ERF |
Rebecca Foulger gene: ERF was added gene: ERF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS |
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Fetal anomalies v0.1 | ERCC8 |
Rebecca Foulger gene: ERCC8 was added gene: ERCC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A |
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Fetal anomalies v0.1 | ERCC6L2 |
Rebecca Foulger gene: ERCC6L2 was added gene: ERCC6L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 |
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Fetal anomalies v0.1 | ERCC6 |
Rebecca Foulger gene: ERCC6 was added gene: ERCC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME |
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Fetal anomalies v0.1 | ERCC5 |
Rebecca Foulger gene: ERCC5 was added gene: ERCC5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G |
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Fetal anomalies v0.1 | ERCC4 |
Rebecca Foulger gene: ERCC4 was added gene: ERCC4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q |
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Fetal anomalies v0.1 | ERCC3 |
Rebecca Foulger gene: ERCC3 was added gene: ERCC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B |
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Fetal anomalies v0.1 | ERCC2 |
Rebecca Foulger gene: ERCC2 was added gene: ERCC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | ERCC1 |
Rebecca Foulger gene: ERCC1 was added gene: ERCC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA |
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Fetal anomalies v0.1 | EPHX1 |
Rebecca Foulger gene: EPHX1 was added gene: EPHX1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: EPHX1 was set to Unknown Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity |
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Fetal anomalies v0.1 | EPHB4 |
Rebecca Foulger gene: EPHB4 was added gene: EPHB4 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EPHB4 were set to 27400125 Phenotypes for gene: EPHB4 were set to hydrops fetalis gene |
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Fetal anomalies v0.1 | EPG5 |
Rebecca Foulger gene: EPG5 was added gene: EPG5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM |
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Fetal anomalies v0.1 | EP300 |
Rebecca Foulger gene: EP300 was added gene: EP300 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | EOGT |
Rebecca Foulger gene: EOGT was added gene: EOGT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME |
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Fetal anomalies v0.1 | ENPP1 |
Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 |
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Fetal anomalies v0.1 | EMG1 |
Rebecca Foulger gene: EMG1 was added gene: EMG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome |
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Fetal anomalies v0.1 | EMD |
Rebecca Foulger gene: EMD was added gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300 |
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Fetal anomalies v0.1 | EMC1 |
Rebecca Foulger gene: EMC1 was added gene: EMC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. |
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Fetal anomalies v0.1 | ELOVL4 |
Rebecca Foulger gene: ELOVL4 was added gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION |
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Fetal anomalies v0.1 | ELN |
Rebecca Foulger gene: ELN was added gene: ELN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA |
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Fetal anomalies v0.1 | ELMO2 |
Rebecca Foulger gene: ELMO2 was added gene: ELMO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation |
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Fetal anomalies v0.1 | ELAC2 |
Rebecca Foulger gene: ELAC2 was added gene: ELAC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY |
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Fetal anomalies v0.1 | EIF4A3 |
Rebecca Foulger gene: EIF4A3 was added gene: EIF4A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME |
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Fetal anomalies v0.1 | EIF2S3 |
Rebecca Foulger gene: EIF2S3 was added gene: EIF2S3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly |
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Fetal anomalies v0.1 | EIF2B3 |
Rebecca Foulger gene: EIF2B3 was added gene: EIF2B3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EIF2B3 were set to 28597716 Phenotypes for gene: EIF2B3 were set to vanishing white matter disease 603896 |
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Fetal anomalies v0.1 | EIF2AK3 |
Rebecca Foulger gene: EIF2AK3 was added gene: EIF2AK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME |
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Fetal anomalies v0.1 | EHMT1 |
Rebecca Foulger gene: EHMT1 was added gene: EHMT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME |
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Fetal anomalies v0.1 | EGR2 |
Rebecca Foulger gene: EGR2 was added gene: EGR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 |
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Fetal anomalies v0.1 | EFTUD2 |
Rebecca Foulger gene: EFTUD2 was added gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY |
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Fetal anomalies v0.1 | EFNB1 |
Rebecca Foulger gene: EFNB1 was added gene: EFNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EFNB1 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: EFNB1 were set to CRANIOFRONTONASAL SYNDROME |
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Fetal anomalies v0.1 | EEF1A2 |
Rebecca Foulger gene: EEF1A2 was added gene: EEF1A2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | EED |
Rebecca Foulger gene: EED was added gene: EED was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome |
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Fetal anomalies v0.1 | EDNRB |
Rebecca Foulger gene: EDNRB was added gene: EDNRB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDNRB were set to ABCD SYNDROME |
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Fetal anomalies v0.1 | EDNRA |
Rebecca Foulger gene: EDNRA was added gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA |
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Fetal anomalies v0.1 | EDN1 |
Rebecca Foulger gene: EDN1 was added gene: EDN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME |
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Fetal anomalies v0.1 | EDAR |
Rebecca Foulger gene: EDAR was added gene: EDAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDAR was set to Unknown Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
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Fetal anomalies v0.1 | EDA |
Rebecca Foulger gene: EDA was added gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 |
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Fetal anomalies v0.1 | ECEL1 |
Rebecca Foulger gene: ECEL1 was added gene: ECEL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D |
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Fetal anomalies v0.1 | EBP |
Rebecca Foulger gene: EBP was added gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EBP 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: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED |
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Fetal anomalies v0.1 | EBF3 |
Rebecca Foulger gene: EBF3 was added gene: EBF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism |
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Fetal anomalies v0.1 | DYRK1A |
Rebecca Foulger gene: DYRK1A was added gene: DYRK1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 |
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Fetal anomalies v0.1 | DYNC2H1 |
Rebecca Foulger gene: DYNC2H1 was added gene: DYNC2H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 |
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Fetal anomalies v0.1 | DYNC1H1 |
Rebecca Foulger gene: DYNC1H1 was added gene: DYNC1H1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD |
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Fetal anomalies v0.1 | DYM |
Rebecca Foulger gene: DYM was added gene: DYM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA |
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Fetal anomalies v0.1 | DVL3 |
Rebecca Foulger gene: DVL3 was added gene: DVL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME |
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Fetal anomalies v0.1 | DVL1 |
Rebecca Foulger gene: DVL1 was added gene: DVL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME |
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Fetal anomalies v0.1 | DUSP6 |
Rebecca Foulger gene: DUSP6 was added gene: DUSP6 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: DUSP6 was set to Unknown Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269 |
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Fetal anomalies v0.1 | DSTYK |
Rebecca Foulger gene: DSTYK was added gene: DSTYK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 |
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Fetal anomalies v0.1 | DSPP |
Rebecca Foulger gene: DSPP was added gene: DSPP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 |
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Fetal anomalies v0.1 | DSP |
Rebecca Foulger gene: DSP was added gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450 |
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Fetal anomalies v0.1 | DSG1 |
Rebecca Foulger gene: DSG1 was added gene: DSG1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING |
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Fetal anomalies v0.1 | DRC1 |
Rebecca Foulger gene: DRC1 was added gene: DRC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA |
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Fetal anomalies v0.1 | DPM3 |
Rebecca Foulger gene: DPM3 was added gene: DPM3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM3 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O |
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Fetal anomalies v0.1 | DPM1 |
Rebecca Foulger gene: DPM1 was added gene: DPM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | DPF2 |
Rebecca Foulger gene: DPF2 was added gene: DPF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DPF2 were set to Coffin Siris like disorder |
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Fetal anomalies v0.1 | DPAGT1 |
Rebecca Foulger gene: DPAGT1 was added gene: DPAGT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 |
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Fetal anomalies v0.1 | DOLK |
Rebecca Foulger gene: DOLK was added gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION |
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Fetal anomalies v0.1 | DOCK8 |
Rebecca Foulger gene: DOCK8 was added gene: DOCK8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | DOCK7 |
Rebecca Foulger gene: DOCK7 was added gene: DOCK7 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 |
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Fetal anomalies v0.1 | DOCK6 |
Rebecca Foulger gene: DOCK6 was added gene: DOCK6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 |
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Fetal anomalies v0.1 | DNMT3B |
Rebecca Foulger gene: DNMT3B was added gene: DNMT3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 |
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Fetal anomalies v0.1 | DNMT3A |
Rebecca Foulger gene: DNMT3A was added gene: DNMT3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | DNM1 |
Rebecca Foulger gene: DNM1 was added gene: DNM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | DNAJC19 |
Rebecca Foulger gene: DNAJC19 was added gene: DNAJC19 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198 |
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Fetal anomalies v0.1 | DNAJC12 |
Rebecca Foulger gene: DNAJC12 was added gene: DNAJC12 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability |
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Fetal anomalies v0.1 | DNAI1 |
Rebecca Foulger gene: DNAI1 was added gene: DNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia 244400 |
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Fetal anomalies v0.1 | DNAH5 |
Rebecca Foulger gene: DNAH5 was added gene: DNAH5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3 |
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Fetal anomalies v0.1 | DNAH11 |
Rebecca Foulger gene: DNAH11 was added gene: DNAH11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia 611884 |
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Fetal anomalies v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 |
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Fetal anomalies v0.1 | DNAAF4 |
Rebecca Foulger gene: DNAAF4 was added gene: DNAAF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA |
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Fetal anomalies v0.1 | DNAAF3 |
Rebecca Foulger gene: DNAAF3 was added gene: DNAAF3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA |
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Fetal anomalies v0.1 | DNAAF1 |
Rebecca Foulger gene: DNAAF1 was added gene: DNAAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia 613193 |
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Fetal anomalies v0.1 | DMPK |
Rebecca Foulger gene: DMPK was added gene: DMPK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1 |
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Fetal anomalies v0.1 | DMP1 |
Rebecca Foulger gene: DMP1 was added gene: DMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR |
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Fetal anomalies v0.1 | DLL4 |
Rebecca Foulger gene: DLL4 was added gene: DLL4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 |
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Fetal anomalies v0.1 | DLL3 |
Rebecca Foulger gene: DLL3 was added gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 |
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Fetal anomalies v0.1 | DLG4 |
Rebecca Foulger gene: DLG4 was added gene: DLG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability |
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Fetal anomalies v0.1 | DLG3 |
Rebecca Foulger gene: DLG3 was added gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 |
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Fetal anomalies v0.1 | DLD |
Rebecca Foulger gene: DLD was added gene: DLD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY |
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Fetal anomalies v0.1 | DLAT |
Rebecca Foulger gene: DLAT was added gene: DLAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY |
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Fetal anomalies v0.1 | DKC1 |
Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA |
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Fetal anomalies v0.1 | DIS3L2 |
Rebecca Foulger gene: DIS3L2 was added gene: DIS3L2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME |
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Fetal anomalies v0.1 | DHX30 |
Rebecca Foulger gene: DHX30 was added gene: DHX30 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder |
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Fetal anomalies v0.1 | DHTKD1 |
Rebecca Foulger gene: DHTKD1 was added gene: DHTKD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA |
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Fetal anomalies v0.1 | DHODH |
Rebecca Foulger gene: DHODH was added gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS |
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Fetal anomalies v0.1 | DHH |
Rebecca Foulger gene: DHH was added gene: DHH was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy |
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Fetal anomalies v0.1 | DHFR |
Rebecca Foulger gene: DHFR was added gene: DHFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY |
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Fetal anomalies v0.1 | DHDDS |
Rebecca Foulger gene: DHDDS was added gene: DHDDS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | DHCR7 |
Rebecca Foulger gene: DHCR7 was added gene: DHCR7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME |
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Fetal anomalies v0.1 | DHCR24 |
Rebecca Foulger gene: DHCR24 was added gene: DHCR24 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS |
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Fetal anomalies v0.1 | DEPDC5 |
Rebecca Foulger gene: DEPDC5 was added gene: DEPDC5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI |
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Fetal anomalies v0.1 | DENND5A |
Rebecca Foulger gene: DENND5A was added gene: DENND5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | DEAF1 |
Rebecca Foulger gene: DEAF1 was added gene: DEAF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 |
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Fetal anomalies v0.1 | DDX6 |
Rebecca Foulger gene: DDX6 was added gene: DDX6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | DDX59 |
Rebecca Foulger gene: DDX59 was added gene: DDX59 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME |
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Fetal anomalies v0.1 | DDX3X |
Rebecca Foulger gene: DDX3X was added gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX3X 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: DDX3X were set to INTELLECTUAL DIABILITY |
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Fetal anomalies v0.1 | DDX11 |
Rebecca Foulger gene: DDX11 was added gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME |
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Fetal anomalies v0.1 | DDR2 |
Rebecca Foulger gene: DDR2 was added gene: DDR2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE |
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Fetal anomalies v0.1 | DDOST |
Rebecca Foulger gene: DDOST was added gene: DDOST was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR |
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Fetal anomalies v0.1 | DDHD2 |
Rebecca Foulger gene: DDHD2 was added gene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA |
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Fetal anomalies v0.1 | DDHD1 |
Rebecca Foulger gene: DDHD1 was added gene: DDHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA |
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Fetal anomalies v0.1 | DDC |
Rebecca Foulger gene: DDC was added gene: DDC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY |
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Fetal anomalies v0.1 | DDB2 |
Rebecca Foulger gene: DDB2 was added gene: DDB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE |
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Fetal anomalies v0.1 | DCX |
Rebecca Foulger gene: DCX was added gene: DCX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DCX 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: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED |
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Fetal anomalies v0.1 | DCHS1 |
Rebecca Foulger gene: DCHS1 was added gene: DCHS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA |
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Fetal anomalies v0.1 | DCDC2 |
Rebecca Foulger gene: DCDC2 was added gene: DCDC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY |
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Fetal anomalies v0.1 | DCC |
Rebecca Foulger gene: DCC was added gene: DCC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability |
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Fetal anomalies v0.1 | DBT |
Rebecca Foulger gene: DBT was added gene: DBT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ |
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Fetal anomalies v0.1 | DARS2 |
Rebecca Foulger gene: DARS2 was added gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION |
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Fetal anomalies v0.1 | DARS |
Rebecca Foulger gene: DARS was added gene: DARS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. |
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Fetal anomalies v0.1 | DAG1 |
Rebecca Foulger gene: DAG1 was added gene: DAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 |
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Fetal anomalies v0.1 | CYP2U1 |
Rebecca Foulger gene: CYP2U1 was added gene: CYP2U1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA |
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Fetal anomalies v0.1 | CYP21A2 |
Rebecca Foulger gene: CYP21A2 was added gene: CYP21A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
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Fetal anomalies v0.1 | CYP1B1 |
Rebecca Foulger gene: CYP1B1 was added gene: CYP1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A |
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Fetal anomalies v0.1 | CYP19A1 |
Rebecca Foulger gene: CYP19A1 was added gene: CYP19A1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: CYP19A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546 |
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Fetal anomalies v0.1 | CYP17A1 |
Rebecca Foulger gene: CYP17A1 was added gene: CYP17A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated |
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Fetal anomalies v0.1 | CYP11B1 |
Rebecca Foulger gene: CYP11B1 was added gene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 |
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Fetal anomalies v0.1 | CYP11A1 |
Rebecca Foulger gene: CYP11A1 was added gene: CYP11A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 |
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Fetal anomalies v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 |
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Fetal anomalies v0.1 | CYB5R3 |
Rebecca Foulger gene: CYB5R3 was added gene: CYB5R3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE |
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Fetal anomalies v0.1 | CWC27 |
Rebecca Foulger gene: CWC27 was added gene: CWC27 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability |
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Fetal anomalies v0.1 | CUX2 |
Rebecca Foulger gene: CUX2 was added gene: CUX2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy |
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Fetal anomalies v0.1 | CUL7 |
Rebecca Foulger gene: CUL7 was added gene: CUL7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1 |
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Fetal anomalies v0.1 | CUL4B |
Rebecca Foulger gene: CUL4B was added gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE |
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Fetal anomalies v0.1 | CTSK |
Rebecca Foulger gene: CTSK was added gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS |
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Fetal anomalies v0.1 | CTSD |
Rebecca Foulger gene: CTSD was added gene: CTSD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 |
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Fetal anomalies v0.1 | CTSA |
Rebecca Foulger gene: CTSA was added gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS |
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Fetal anomalies v0.1 | CTNS | Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE for gene: CTNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | CTNS |
Rebecca Foulger gene: CTNS was added gene: CTNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE |
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Fetal anomalies v0.1 | CTNND1 |
Rebecca Foulger gene: CTNND1 was added gene: CTNND1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome |
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Fetal anomalies v0.1 | CTNNB1 |
Rebecca Foulger gene: CTNNB1 was added gene: CTNNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 |
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Fetal anomalies v0.1 | CTDP1 |
Rebecca Foulger gene: CTDP1 was added gene: CTDP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME |
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Fetal anomalies v0.1 | CTCF |
Rebecca Foulger gene: CTCF was added gene: CTCF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CTC1 |
Rebecca Foulger gene: CTC1 was added gene: CTC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS |
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Fetal anomalies v0.1 | CSTB |
Rebecca Foulger gene: CSTB was added gene: CSTB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE |
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Fetal anomalies v0.1 | CSTA |
Rebecca Foulger gene: CSTA was added gene: CSTA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE |
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Fetal anomalies v0.1 | CSPP1 |
Rebecca Foulger gene: CSPP1 was added gene: CSPP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY |
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Fetal anomalies v0.1 | CSNK2A1 |
Rebecca Foulger gene: CSNK2A1 was added gene: CSNK2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome |
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Fetal anomalies v0.1 | CRYGD |
Rebecca Foulger gene: CRYGD was added gene: CRYGD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGD were set to CATARACT CONGENITAL CERULEAN TYPE 3 |
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Fetal anomalies v0.1 | CRYGC |
Rebecca Foulger gene: CRYGC was added gene: CRYGC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT |
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Fetal anomalies v0.1 | CRYBB3 |
Rebecca Foulger gene: CRYBB3 was added gene: CRYBB3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 |
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Fetal anomalies v0.1 | CRYBB2 |
Rebecca Foulger gene: CRYBB2 was added gene: CRYBB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE |
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Fetal anomalies v0.1 | CRYBB1 |
Rebecca Foulger gene: CRYBB1 was added gene: CRYBB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 |
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Fetal anomalies v0.1 | CRYBA4 |
Rebecca Foulger gene: CRYBA4 was added gene: CRYBA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 |
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Fetal anomalies v0.1 | CRYBA1 |
Rebecca Foulger gene: CRYBA1 was added gene: CRYBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES |
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Fetal anomalies v0.1 | CRYAA |
Rebecca Foulger gene: CRYAA was added gene: CRYAA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 |
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Fetal anomalies v0.1 | CRX |
Rebecca Foulger gene: CRX was added gene: CRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 |
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Fetal anomalies v0.1 | CRTAP |
Rebecca Foulger gene: CRTAP was added gene: CRTAP was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII 610682 |
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Fetal anomalies v0.1 | CRLF1 |
Rebecca Foulger gene: CRLF1 was added gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430 |
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Fetal anomalies v0.1 | CRELD1 |
Rebecca Foulger gene: CRELD1 was added gene: CRELD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME |
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Fetal anomalies v0.1 | CREBBP |
Rebecca Foulger gene: CREBBP was added gene: CREBBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | CRB2 |
Rebecca Foulger gene: CRB2 was added gene: CRB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE |
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Fetal anomalies v0.1 | CRB1 |
Rebecca Foulger gene: CRB1 was added gene: CRB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | CRADD |
Rebecca Foulger gene: CRADD was added gene: CRADD was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRADD were set to Megalencephaly with Variant Lissencephaly |
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Fetal anomalies v0.1 | CPT2 |
Rebecca Foulger gene: CPT2 was added gene: CPT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649 |
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Fetal anomalies v0.1 | CPS1 |
Rebecca Foulger gene: CPS1 was added gene: CPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY |
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Fetal anomalies v0.1 | C5orf42 |
Rebecca Foulger gene: C5orf42 was added gene: C5orf42 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME |
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Fetal anomalies v0.1 | CPAMD8 |
Rebecca Foulger gene: CPAMD8 was added gene: CPAMD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis |
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Fetal anomalies v0.1 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COX7B 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: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS |
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Fetal anomalies v0.1 | COX6B1 |
Rebecca Foulger gene: COX6B1 was added gene: COX6B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | COX15 |
Rebecca Foulger gene: COX15 was added gene: COX15 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | COX10 |
Rebecca Foulger gene: COX10 was added gene: COX10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to LEIGH SYNDROME |
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Fetal anomalies v0.1 | COQ9 |
Rebecca Foulger gene: COQ9 was added gene: COQ9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY |
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Fetal anomalies v0.1 | COQ8A |
Rebecca Foulger gene: COQ8A was added gene: COQ8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to COENZYME Q10 DEFICIENCY |
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Fetal anomalies v0.1 | COQ4 |
Rebecca Foulger gene: COQ4 was added gene: COQ4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 |
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Fetal anomalies v0.1 | COQ2 |
Rebecca Foulger gene: COQ2 was added gene: COQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY |
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Fetal anomalies v0.1 | COMP |
Rebecca Foulger gene: COMP was added gene: COMP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA |
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Fetal anomalies v0.1 | COLEC11 |
Rebecca Foulger gene: COLEC11 was added gene: COLEC11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2 |
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Fetal anomalies v0.1 | COLEC10 |
Rebecca Foulger gene: COLEC10 was added gene: COLEC10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLEC10 were set to 3MC |
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Fetal anomalies v0.1 | COL9A3 |
Rebecca Foulger gene: COL9A3 was added gene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 |
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Fetal anomalies v0.1 | COL9A2 |
Rebecca Foulger gene: COL9A2 was added gene: COL9A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V |
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Fetal anomalies v0.1 | COL9A1 |
Rebecca Foulger gene: COL9A1 was added gene: COL9A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4 |
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Fetal anomalies v0.1 | COL6A3 |
Rebecca Foulger gene: COL6A3 was added gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to DYSTONIA 27 |
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Fetal anomalies v0.1 | COL6A2 |
Rebecca Foulger gene: COL6A2 was added gene: COL6A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Bethlem myopathy 1 158810 |
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Fetal anomalies v0.1 | COL6A1 |
Rebecca Foulger gene: COL6A1 was added gene: COL6A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy |
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Fetal anomalies v0.1 | COL5A2 |
Rebecca Foulger gene: COL5A2 was added gene: COL5A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type 130000 |
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Fetal anomalies v0.1 | COL5A1 |
Rebecca Foulger gene: COL5A1 was added gene: COL5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type 130000 |
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Fetal anomalies v0.1 | COL4A4 |
Rebecca Foulger gene: COL4A4 was added gene: COL4A4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | COL4A3BP |
Rebecca Foulger gene: COL4A3BP was added gene: COL4A3BP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | COL4A3 |
Rebecca Foulger gene: COL4A3 was added gene: COL4A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | COL4A2 |
Rebecca Foulger gene: COL4A2 was added gene: COL4A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2 |
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Fetal anomalies v0.1 | COL4A1 |
Rebecca Foulger gene: COL4A1 was added gene: COL4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 |
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Fetal anomalies v0.1 | COL2A1 |
Rebecca Foulger gene: COL2A1 was added gene: COL2A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA |
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Fetal anomalies v0.1 | COL25A1 |
Rebecca Foulger gene: COL25A1 was added gene: COL25A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 |
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Fetal anomalies v0.1 | COL1A2 |
Rebecca Foulger gene: COL1A2 was added gene: COL1A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Ehlers-Danlos syndrome |
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Fetal anomalies v0.1 | COL1A1 |
Rebecca Foulger gene: COL1A1 was added gene: COL1A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA |
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Fetal anomalies v0.1 | COL18A1 |
Rebecca Foulger gene: COL18A1 was added gene: COL18A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I |
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Fetal anomalies v0.1 | COL13A1 |
Rebecca Foulger gene: COL13A1 was added gene: COL13A1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19 |
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Fetal anomalies v0.1 | COL11A2 |
Rebecca Foulger gene: COL11A2 was added gene: COL11A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA |
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Fetal anomalies v0.1 | COL11A1 |
Rebecca Foulger gene: COL11A1 was added gene: COL11A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS |
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Fetal anomalies v0.1 | COL10A1 |
Rebecca Foulger gene: COL10A1 was added gene: COL10A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA |
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Fetal anomalies v0.1 | COG8 |
Rebecca Foulger gene: COG8 was added gene: COG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG8 were set to COG8-CDG |
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Fetal anomalies v0.1 | COG7 |
Rebecca Foulger gene: COG7 was added gene: COG7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG7 were set to COG7-CDG |
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Fetal anomalies v0.1 | COG5 |
Rebecca Foulger gene: COG5 was added gene: COG5 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG5 were set to COG5-CDG |
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Fetal anomalies v0.1 | COG4 |
Rebecca Foulger gene: COG4 was added gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG4 were set to COG4-CDG |
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Fetal anomalies v0.1 | COG1 |
Rebecca Foulger gene: COG1 was added gene: COG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG1 were set to COG1-CDG |
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Fetal anomalies v0.1 | COASY |
Rebecca Foulger gene: COASY was added gene: COASY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION |
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Fetal anomalies v0.1 | CNTNAP2 |
Rebecca Foulger gene: CNTNAP2 was added gene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME |
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Fetal anomalies v0.1 | CNTNAP1 |
Rebecca Foulger gene: CNTNAP1 was added gene: CNTNAP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7 |
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Fetal anomalies v0.1 | CNOT3 |
Rebecca Foulger gene: CNOT3 was added gene: CNOT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNOT3 were set to CNOT3 syndrome |
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Fetal anomalies v0.1 | CNKSR2 |
Rebecca Foulger gene: CNKSR2 was added gene: CNKSR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY |
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Fetal anomalies v0.1 | CLTC |
Rebecca Foulger gene: CLTC was added gene: CLTC was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CLTC were set to Epilepsy and intellectual disability |
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Fetal anomalies v0.1 | CLPP |
Rebecca Foulger gene: CLPP was added gene: CLPP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPP were set to PERRAULT SYNDROME |
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Fetal anomalies v0.1 | CLPB |
Rebecca Foulger gene: CLPB was added gene: CLPB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA |
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Fetal anomalies v0.1 | CLP1 |
Rebecca Foulger gene: CLP1 was added gene: CLP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 |
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Fetal anomalies v0.1 | CLN8 |
Rebecca Foulger gene: CLN8 was added gene: CLN8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 |
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Fetal anomalies v0.1 | CLN6 | Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET for gene: CLN6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | CLN6 |
Rebecca Foulger gene: CLN6 was added gene: CLN6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
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Fetal anomalies v0.1 | CLN5 |
Rebecca Foulger gene: CLN5 was added gene: CLN5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 |
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Fetal anomalies v0.1 | CLN3 |
Rebecca Foulger gene: CLN3 was added gene: CLN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 |
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Fetal anomalies v0.1 | CLMP |
Rebecca Foulger gene: CLMP was added gene: CLMP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME |
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Fetal anomalies v0.1 | CLDN19 |
Rebecca Foulger gene: CLDN19 was added gene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT |
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Fetal anomalies v0.1 | CLCNKB |
Rebecca Foulger gene: CLCNKB was added gene: CLCNKB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B |
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Fetal anomalies v0.1 | CLCN7 |
Rebecca Foulger gene: CLCN7 was added gene: CLCN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLCN7 were set to CLCN7-RELATED OSTEOPETROSIS |
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Fetal anomalies v0.1 | CKAP2L |
Rebecca Foulger gene: CKAP2L was added gene: CKAP2L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION |
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Fetal anomalies v0.1 | CIT |
Rebecca Foulger gene: CIT was added gene: CIT was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY |
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Fetal anomalies v0.1 | CISD2 |
Rebecca Foulger gene: CISD2 was added gene: CISD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | CIB2 |
Rebecca Foulger gene: CIB2 was added gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J |
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Fetal anomalies v0.1 | CHUK |
Rebecca Foulger gene: CHUK was added gene: CHUK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHUK were set to COCOON SYNDROME |
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Fetal anomalies v0.1 | CHSY1 |
Rebecca Foulger gene: CHSY1 was added gene: CHSY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME |
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Fetal anomalies v0.1 | CHST3 |
Rebecca Foulger gene: CHST3 was added gene: CHST3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS |
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Fetal anomalies v0.1 | CHST14 |
Rebecca Foulger gene: CHST14 was added gene: CHST14 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE |
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Fetal anomalies v0.1 | CHRNG |
Rebecca Foulger gene: CHRNG was added gene: CHRNG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT |
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Fetal anomalies v0.1 | CHRND |
Rebecca Foulger gene: CHRND was added gene: CHRND was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Several associated, probably most relevant is lethal multiple pterygium syndrome 253290 |
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Fetal anomalies v0.1 | CHRNB2 |
Rebecca Foulger gene: CHRNB2 was added gene: CHRNB2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT |
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Fetal anomalies v0.1 | CHRNA4 |
Rebecca Foulger gene: CHRNA4 was added gene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 |
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Fetal anomalies v0.1 | CHRNA1 |
Rebecca Foulger gene: CHRNA1 was added gene: CHRNA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE |
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Fetal anomalies v0.1 | CHRDL1 |
Rebecca Foulger gene: CHRDL1 was added gene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED |
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Fetal anomalies v0.1 | CHMP1A |
Rebecca Foulger gene: CHMP1A was added gene: CHMP1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY |
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Fetal anomalies v0.1 | CHKB |
Rebecca Foulger gene: CHKB was added gene: CHKB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type 602541 |
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Fetal anomalies v0.1 | CHD8 |
Rebecca Foulger gene: CHD8 was added gene: CHD8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD8 were set to AUTISM |
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Fetal anomalies v0.1 | CHD7 |
Rebecca Foulger gene: CHD7 was added gene: CHD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD7 were set to KALLMANN SYNDROME TYPE 5 |
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Fetal anomalies v0.1 | CHD4 |
Rebecca Foulger gene: CHD4 was added gene: CHD4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease |
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Fetal anomalies v0.1 | CHD3 |
Rebecca Foulger gene: CHD3 was added gene: CHD3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD3 were set to Apraxia of speech |
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Fetal anomalies v0.1 | CHD2 |
Rebecca Foulger gene: CHD2 was added gene: CHD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | CHAT |
Rebecca Foulger gene: CHAT was added gene: CHAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic 254210 |
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Fetal anomalies v0.1 | CHAMP1 |
Rebecca Foulger gene: CHAMP1 was added gene: CHAMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CFTR |
Rebecca Foulger gene: CFTR was added gene: CFTR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Cystic fibrosis 219700 |
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Fetal anomalies v0.1 | CFL2 |
Rebecca Foulger gene: CFL2 was added gene: CFL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 |
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Fetal anomalies v0.1 | CFC1 |
Rebecca Foulger gene: CFC1 was added gene: CFC1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS |
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Fetal anomalies v0.1 | C21orf2 |
Rebecca Foulger gene: C21orf2 was added gene: C21orf2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia |
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Fetal anomalies v0.1 | C21orf59 |
Rebecca Foulger gene: C21orf59 was added gene: C21orf59 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.1 | CEP83 |
Rebecca Foulger gene: CEP83 was added gene: CEP83 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CEP63 |
Rebecca Foulger gene: CEP63 was added gene: CEP63 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP63 were set to SECKEL SYNDROME 6 |
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Fetal anomalies v0.1 | CEP57 |
Rebecca Foulger gene: CEP57 was added gene: CEP57 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 |
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Fetal anomalies v0.1 | CEP41 |
Rebecca Foulger gene: CEP41 was added gene: CEP41 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15 |
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Fetal anomalies v0.1 | CEP290 |
Rebecca Foulger gene: CEP290 was added gene: CEP290 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 |
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Fetal anomalies v0.1 | CEP164 |
Rebecca Foulger gene: CEP164 was added gene: CEP164 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Nephronophthisis 15 614845 |
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Fetal anomalies v0.1 | CEP152 |
Rebecca Foulger gene: CEP152 was added gene: CEP152 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 |
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Fetal anomalies v0.1 | CEP135 |
Rebecca Foulger gene: CEP135 was added gene: CEP135 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION |
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Fetal anomalies v0.1 | CEP104 |
Rebecca Foulger gene: CEP104 was added gene: CEP104 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP104 were set to JOUBERT SYNDROME |
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Fetal anomalies v0.1 | CENPJ |
Rebecca Foulger gene: CENPJ was added gene: CENPJ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 |
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Fetal anomalies v0.1 | CDT1 |
Rebecca Foulger gene: CDT1 was added gene: CDT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4 |
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Fetal anomalies v0.1 | CDON |
Rebecca Foulger gene: CDON was added gene: CDON was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 |
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Fetal anomalies v0.1 | CDKN1C |
Rebecca Foulger gene: CDKN1C was added gene: CDKN1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME |
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Fetal anomalies v0.1 | CDKL5 |
Rebecca Foulger gene: CDKL5 was added gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDKL5 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: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 |
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Fetal anomalies v0.1 | CDK5RAP2 |
Rebecca Foulger gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY |
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Fetal anomalies v0.1 | CDK13 |
Rebecca Foulger gene: CDK13 was added gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease |
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Fetal anomalies v0.1 | CDH3 |
Rebecca Foulger gene: CDH3 was added gene: CDH3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDH3 were set to EEM SYNDROME |
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Fetal anomalies v0.1 | CDH1 |
Rebecca Foulger gene: CDH1 was added gene: CDH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome |
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Fetal anomalies v0.1 | CDC6 |
Rebecca Foulger gene: CDC6 was added gene: CDC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5 |
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Fetal anomalies v0.1 | CDC45 |
Rebecca Foulger gene: CDC45 was added gene: CDC45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis |
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Fetal anomalies v0.1 | CDAN1 |
Rebecca Foulger gene: CDAN1 was added gene: CDAN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I 224120 |
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Fetal anomalies v0.1 | CD96 |
Rebecca Foulger gene: CD96 was added gene: CD96 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CD96 were set to C SYNDROME |
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Fetal anomalies v0.1 | CD151 |
Rebecca Foulger gene: CD151 was added gene: CD151 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS |
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Fetal anomalies v0.1 | FAM58A |
Rebecca Foulger gene: FAM58A was added gene: FAM58A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FAM58A were set to STAR SYNDROME |
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Fetal anomalies v0.1 | CCNO |
Rebecca Foulger gene: CCNO was added gene: CCNO was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 |
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Fetal anomalies v0.1 | CCND2 |
Rebecca Foulger gene: CCND2 was added gene: CCND2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME |
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Fetal anomalies v0.1 | CCDC88C |
Rebecca Foulger gene: CCDC88C was added gene: CCDC88C was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE |
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Fetal anomalies v0.1 | CCDC8 |
Rebecca Foulger gene: CCDC8 was added gene: CCDC8 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 |
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Fetal anomalies v0.1 | CCDC78 |
Rebecca Foulger gene: CCDC78 was added gene: CCDC78 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES |
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Fetal anomalies v0.1 | CCDC65 |
Rebecca Foulger gene: CCDC65 was added gene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.1 | CCDC40 |
Rebecca Foulger gene: CCDC40 was added gene: CCDC40 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 |
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Fetal anomalies v0.1 | CCDC39 |
Rebecca Foulger gene: CCDC39 was added gene: CCDC39 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 |
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Fetal anomalies v0.1 | CCDC22 |
Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CCDC151 |
Rebecca Foulger gene: CCDC151 was added gene: CCDC151 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA |
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Fetal anomalies v0.1 | CCDC115 |
Rebecca Foulger gene: CCDC115 was added gene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis |
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Fetal anomalies v0.1 | CCDC114 |
Rebecca Foulger gene: CCDC114 was added gene: CCDC114 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.1 | CCDC103 |
Rebecca Foulger gene: CCDC103 was added gene: CCDC103 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA |
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Fetal anomalies v0.1 | CCBE1 |
Rebecca Foulger gene: CCBE1 was added gene: CCBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME |
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Fetal anomalies v0.1 | CC2D2A |
Rebecca Foulger gene: CC2D2A was added gene: CC2D2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6 |
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Fetal anomalies v0.1 | CC2D1A |
Rebecca Foulger gene: CC2D1A was added gene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 |
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Fetal anomalies v0.1 | CBS |
Rebecca Foulger gene: CBS was added gene: CBS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY |
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Fetal anomalies v0.1 | CBL |
Rebecca Foulger gene: CBL was added gene: CBL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA |
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Fetal anomalies v0.1 | CAVIN1 |
Rebecca Foulger gene: CAVIN1 was added gene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 613327 |
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Fetal anomalies v0.1 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CASK 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: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED |
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Fetal anomalies v0.1 | CARS2 |
Rebecca Foulger gene: CARS2 was added gene: CARS2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression |
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Fetal anomalies v0.1 | CAMTA1 |
Rebecca Foulger gene: CAMTA1 was added gene: CAMTA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION |
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Fetal anomalies v0.1 | CAMK2B |
Rebecca Foulger gene: CAMK2B was added gene: CAMK2B was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CAMK2A |
Rebecca Foulger gene: CAMK2A was added gene: CAMK2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | CAD |
Rebecca Foulger gene: CAD was added gene: CAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CAD was set to Unknown Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy |
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Fetal anomalies v0.1 | CACNA1D |
Rebecca Foulger gene: CACNA1D was added gene: CACNA1D was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS |
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Fetal anomalies v0.1 | CACNA1C |
Rebecca Foulger gene: CACNA1C was added gene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME |
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Fetal anomalies v0.1 | CACNA1A |
Rebecca Foulger gene: CACNA1A was added gene: CACNA1A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY |
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Fetal anomalies v0.1 | CA8 |
Rebecca Foulger gene: CA8 was added gene: CA8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | CA5A |
Rebecca Foulger gene: CA5A was added gene: CA5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY |
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Fetal anomalies v0.1 | CA2 |
Rebecca Foulger gene: CA2 was added gene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 |
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Fetal anomalies v0.1 | C8orf37 |
Rebecca Foulger gene: C8orf37 was added gene: C8orf37 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16 |
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Fetal anomalies v0.1 | C2CD3 |
Rebecca Foulger gene: C2CD3 was added gene: C2CD3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C2CD3 were set to OROFACIODIGITAL SYNDROME XIV |
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Fetal anomalies v0.1 | C1QBP |
Rebecca Foulger gene: C1QBP was added gene: C1QBP was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies |
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Fetal anomalies v0.1 | C12orf65 |
Rebecca Foulger gene: C12orf65 was added gene: C12orf65 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 |
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Fetal anomalies v0.1 | C12orf57 |
Rebecca Foulger gene: C12orf57 was added gene: C12orf57 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME |
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Fetal anomalies v0.1 | BUB1B |
Rebecca Foulger gene: BUB1B was added gene: BUB1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 |
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Fetal anomalies v0.1 | BTD |
Rebecca Foulger gene: BTD was added gene: BTD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY |
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Fetal anomalies v0.1 | BSND |
Rebecca Foulger gene: BSND was added gene: BSND was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A |
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Fetal anomalies v0.1 | BRWD3 |
Rebecca Foulger gene: BRWD3 was added gene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 |
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Fetal anomalies v0.1 | BRPF1 |
Rebecca Foulger gene: BRPF1 was added gene: BRPF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis |
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Fetal anomalies v0.1 | BRIP1 |
Rebecca Foulger gene: BRIP1 was added gene: BRIP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J |
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Fetal anomalies v0.1 | BRCA2 |
Rebecca Foulger gene: BRCA2 was added gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 |
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Fetal anomalies v0.1 | BRCA1 |
Rebecca Foulger gene: BRCA1 was added gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | BRAT1 |
Rebecca Foulger gene: BRAT1 was added gene: BRAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME |
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Fetal anomalies v0.1 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 |
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Fetal anomalies v0.1 | BPTF |
Rebecca Foulger gene: BPTF was added gene: BPTF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features |
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Fetal anomalies v0.1 | BOLA3 |
Rebecca Foulger gene: BOLA3 was added gene: BOLA3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 |
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Fetal anomalies v0.1 | BMPR1B |
Rebecca Foulger gene: BMPR1B was added gene: BMPR1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPR1B were set to BRACHYDACTYLY TYPE A2 |
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Fetal anomalies v0.1 | BMPER |
Rebecca Foulger gene: BMPER was added gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS |
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Fetal anomalies v0.1 | BMP4 |
Rebecca Foulger gene: BMP4 was added gene: BMP4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11 |
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Fetal anomalies v0.1 | BMP2 |
Rebecca Foulger gene: BMP2 was added gene: BMP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations |
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Fetal anomalies v0.1 | BMP1 |
Rebecca Foulger gene: BMP1 was added gene: BMP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BMP1 were set to 28513615 Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta type XIII 614856 |
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Fetal anomalies v0.1 | BLOC1S6 |
Rebecca Foulger gene: BLOC1S6 was added gene: BLOC1S6 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 |
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Fetal anomalies v0.1 | BLM |
Rebecca Foulger gene: BLM was added gene: BLM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to BLOOM SYNDROME |
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Fetal anomalies v0.1 | BIN1 |
Rebecca Foulger gene: BIN1 was added gene: BIN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 |
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Fetal anomalies v0.1 | BICD2 |
Rebecca Foulger gene: BICD2 was added gene: BICD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE |
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Fetal anomalies v0.1 | BHLHA9 |
Rebecca Foulger gene: BHLHA9 was added gene: BHLHA9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE |
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Fetal anomalies v0.1 | BGN |
Rebecca Foulger gene: BGN was added gene: BGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia |
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Fetal anomalies v0.1 | BFSP2 |
Rebecca Foulger gene: BFSP2 was added gene: BFSP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED |
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Fetal anomalies v0.1 | BCS1L |
Rebecca Foulger gene: BCS1L was added gene: BCS1L was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to GRACILE SYNDROME |
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Fetal anomalies v0.1 | BCOR |
Rebecca Foulger gene: BCOR was added gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCOR 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: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 |
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Fetal anomalies v0.1 | BCL11A |
Rebecca Foulger gene: BCL11A was added gene: BCL11A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | BCKDHB |
Rebecca Foulger gene: BCKDHB was added gene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE |
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Fetal anomalies v0.1 | BCKDHA |
Rebecca Foulger gene: BCKDHA was added gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE |
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Fetal anomalies v0.1 | BCAP31 |
Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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Fetal anomalies v0.1 | BBS9 |
Rebecca Foulger gene: BBS9 was added gene: BBS9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 |
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Fetal anomalies v0.1 | BBS7 |
Rebecca Foulger gene: BBS7 was added gene: BBS7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 |
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Fetal anomalies v0.1 | BBS5 |
Rebecca Foulger gene: BBS5 was added gene: BBS5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 |
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Fetal anomalies v0.1 | BBS4 |
Rebecca Foulger gene: BBS4 was added gene: BBS4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 |
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Fetal anomalies v0.1 | BBS2 |
Rebecca Foulger gene: BBS2 was added gene: BBS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 |
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Fetal anomalies v0.1 | BBS12 |
Rebecca Foulger gene: BBS12 was added gene: BBS12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 |
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Fetal anomalies v0.1 | BBS10 |
Rebecca Foulger gene: BBS10 was added gene: BBS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 |
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Fetal anomalies v0.1 | BBS1 |
Rebecca Foulger gene: BBS1 was added gene: BBS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME |
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Fetal anomalies v0.1 | B9D1 |
Rebecca Foulger gene: B9D1 was added gene: B9D1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9 |
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Fetal anomalies v0.1 | B4GALT7 |
Rebecca Foulger gene: B4GALT7 was added gene: B4GALT7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE |
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Fetal anomalies v0.1 | B3GLCT |
Rebecca Foulger gene: B3GLCT was added gene: B3GLCT was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 29096039 Phenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME 261540 |
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Fetal anomalies v0.1 | B3GAT3 |
Rebecca Foulger gene: B3GAT3 was added gene: B3GAT3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 |
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Fetal anomalies v0.1 | B3GALT6 |
Rebecca Foulger gene: B3GALT6 was added gene: B3GALT6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME |
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Fetal anomalies v0.1 | B3GALNT2 |
Rebecca Foulger gene: B3GALNT2 was added gene: B3GALNT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 |
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Fetal anomalies v0.1 | AUTS2 |
Rebecca Foulger gene: AUTS2 was added gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY |
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Fetal anomalies v0.1 | AUH |
Rebecca Foulger gene: AUH was added gene: AUH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 |
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Fetal anomalies v0.1 | ATRX |
Rebecca Foulger gene: ATRX was added gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | ATR |
Rebecca Foulger gene: ATR was added gene: ATR was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | ATP8B1 |
Rebecca Foulger gene: ATP8B1 was added gene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS |
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Fetal anomalies v0.1 | ATP7A |
Rebecca Foulger gene: ATP7A was added gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME |
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Fetal anomalies v0.1 | ATP6V1B2 |
Rebecca Foulger gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME |
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Fetal anomalies v0.1 | ATP6V1B1 |
Rebecca Foulger gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS |
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Fetal anomalies v0.1 | ATP6V0A2 |
Rebecca Foulger gene: ATP6V0A2 was added gene: ATP6V0A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V0A2 were set to Wrinkly skin syndrome 219200; Cutis laxa, autosomal recessive, type IIA |
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Fetal anomalies v0.1 | ATP1A3 |
Rebecca Foulger gene: ATP1A3 was added gene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM |
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Fetal anomalies v0.1 | ATP13A2 |
Rebecca Foulger gene: ATP13A2 was added gene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 |
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Fetal anomalies v0.1 | ATM |
Rebecca Foulger gene: ATM was added gene: ATM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA |
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Fetal anomalies v0.1 | ATIC |
Rebecca Foulger gene: ATIC was added gene: ATIC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATIC were set to AICA-RIBOSURIA |
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Fetal anomalies v0.1 | ATAD3A |
Rebecca Foulger gene: ATAD3A was added gene: ATAD3A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy |
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Fetal anomalies v0.1 | ASXL3 |
Rebecca Foulger gene: ASXL3 was added gene: ASXL3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME |
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Fetal anomalies v0.1 | ASXL2 |
Rebecca Foulger gene: ASXL2 was added gene: ASXL2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features |
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Fetal anomalies v0.1 | ASXL1 |
Rebecca Foulger gene: ASXL1 was added gene: ASXL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME |
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Fetal anomalies v0.1 | ASS1 |
Rebecca Foulger gene: ASS1 was added gene: ASS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I |
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Fetal anomalies v0.1 | ASPM |
Rebecca Foulger gene: ASPM was added gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY |
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Fetal anomalies v0.1 | ASPH |
Rebecca Foulger gene: ASPH was added gene: ASPH was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS |
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Fetal anomalies v0.1 | ASPA |
Rebecca Foulger gene: ASPA was added gene: ASPA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to CANAVAN DISEASE |
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Fetal anomalies v0.1 | ASNS |
Rebecca Foulger gene: ASNS was added gene: ASNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency 615574 |
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Fetal anomalies v0.1 | ASL |
Rebecca Foulger gene: ASL was added gene: ASL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY |
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Fetal anomalies v0.1 | ASAH1 |
Rebecca Foulger gene: ASAH1 was added gene: ASAH1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS |
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Fetal anomalies v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED |
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Fetal anomalies v0.1 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED |
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Fetal anomalies v0.1 | ARSB |
Rebecca Foulger gene: ARSB was added gene: ARSB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 |
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Fetal anomalies v0.1 | ARSA |
Rebecca Foulger gene: ARSA was added gene: ARSA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY |
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Fetal anomalies v0.1 | ARMC9 |
Rebecca Foulger gene: ARMC9 was added gene: ARMC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC9 were set to Joubert syndrome 30 |
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Fetal anomalies v0.1 | ARMC4 |
Rebecca Foulger gene: ARMC4 was added gene: ARMC4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 |
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Fetal anomalies v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 |
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Fetal anomalies v0.1 | ARL13B |
Rebecca Foulger gene: ARL13B was added gene: ARL13B was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8 612291 |
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Fetal anomalies v0.1 | ARID2 |
Rebecca Foulger gene: ARID2 was added gene: ARID2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder |
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Fetal anomalies v0.1 | ARID1B |
Rebecca Foulger gene: ARID1B was added gene: ARID1B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME |
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Fetal anomalies v0.1 | ARID1A |
Rebecca Foulger gene: ARID1A was added gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME |
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Fetal anomalies v0.1 | ARHGAP31 |
Rebecca Foulger gene: ARHGAP31 was added gene: ARHGAP31 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 |
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Fetal anomalies v0.1 | ARG1 |
Rebecca Foulger gene: ARG1 was added gene: ARG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARG1 were set to ARGININEMIA |
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Fetal anomalies v0.1 | ARFGEF2 |
Rebecca Foulger gene: ARFGEF2 was added gene: ARFGEF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY |
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Fetal anomalies v0.1 | ARCN1 |
Rebecca Foulger gene: ARCN1 was added gene: ARCN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism |
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Fetal anomalies v0.1 | AR |
Rebecca Foulger gene: AR was added gene: AR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY |
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Fetal anomalies v0.1 | APTX |
Rebecca Foulger gene: APTX was added gene: APTX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 |
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Fetal anomalies v0.1 | APOPT1 |
Rebecca Foulger gene: APOPT1 was added gene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY |
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Fetal anomalies v0.1 | AP4S1 |
Rebecca Foulger gene: AP4S1 was added gene: AP4S1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 |
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Fetal anomalies v0.1 | AP4M1 |
Rebecca Foulger gene: AP4M1 was added gene: AP4M1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 |
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Fetal anomalies v0.1 | AP4E1 |
Rebecca Foulger gene: AP4E1 was added gene: AP4E1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 |
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Fetal anomalies v0.1 | AP4B1 |
Rebecca Foulger gene: AP4B1 was added gene: AP4B1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 |
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Fetal anomalies v0.1 | AP3B2 |
Rebecca Foulger gene: AP3B2 was added gene: AP3B2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy |
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Fetal anomalies v0.1 | AP3B1 |
Rebecca Foulger gene: AP3B1 was added gene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233 |
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Fetal anomalies v0.1 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 |
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Fetal anomalies v0.1 | ANTXR2 |
Rebecca Foulger gene: ANTXR2 was added gene: ANTXR2 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome 228600 |
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Fetal anomalies v0.1 | ANTXR1 |
Rebecca Foulger gene: ANTXR1 was added gene: ANTXR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME |
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Fetal anomalies v0.1 | ANOS1 |
Rebecca Foulger gene: ANOS1 was added gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 |
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Fetal anomalies v0.1 | ANO5 |
Rebecca Foulger gene: ANO5 was added gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 |
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Fetal anomalies v0.1 | ANKRD26 |
Rebecca Foulger gene: ANKRD26 was added gene: ANKRD26 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 |
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Fetal anomalies v0.1 | ANKRD11 |
Rebecca Foulger gene: ANKRD11 was added gene: ANKRD11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKRD11 were set to KBG SYNDROME |
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Fetal anomalies v0.1 | ANKH |
Rebecca Foulger gene: ANKH was added gene: ANKH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE |
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Fetal anomalies v0.1 | AMT |
Rebecca Foulger gene: AMT was added gene: AMT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY |
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Fetal anomalies v0.1 | AMPD2 |
Rebecca Foulger gene: AMPD2 was added gene: AMPD2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA |
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Fetal anomalies v0.1 | AMER1 |
Rebecca Foulger gene: AMER1 was added gene: AMER1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS |
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Fetal anomalies v0.1 | ALX4 |
Rebecca Foulger gene: ALX4 was added gene: ALX4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 |
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Fetal anomalies v0.1 | ALX3 |
Rebecca Foulger gene: ALX3 was added gene: ALX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 |
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Fetal anomalies v0.1 | ALX1 |
Rebecca Foulger gene: ALX1 was added gene: ALX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 |
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Fetal anomalies v0.1 | ALS2 |
Rebecca Foulger gene: ALS2 was added gene: ALS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS |
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Fetal anomalies v0.1 | ALPL |
Rebecca Foulger gene: ALPL was added gene: ALPL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA |
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Fetal anomalies v0.1 | ALMS1 |
Rebecca Foulger gene: ALMS1 was added gene: ALMS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME |
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Fetal anomalies v0.1 | ALG9 |
Rebecca Foulger gene: ALG9 was added gene: ALG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG9 were set to ALG9-CDG |
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Fetal anomalies v0.1 | ALG8 |
Rebecca Foulger gene: ALG8 was added gene: ALG8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to ALG8-CDG |
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Fetal anomalies v0.1 | ALG6 |
Rebecca Foulger gene: ALG6 was added gene: ALG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG6 were set to ALG6-CDG |
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Fetal anomalies v0.1 | ALG3 |
Rebecca Foulger gene: ALG3 was added gene: ALG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to ALG3-CDG |
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Fetal anomalies v0.1 | ALG2 |
Rebecca Foulger gene: ALG2 was added gene: ALG2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG2 were set to ALG2-CDG |
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Fetal anomalies v0.1 | ALG13 |
Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG13 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: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES. |
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Fetal anomalies v0.1 | ALG12 |
Rebecca Foulger gene: ALG12 was added gene: ALG12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G |
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Fetal anomalies v0.1 | ALG11 |
Rebecca Foulger gene: ALG11 was added gene: ALG11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to ALG11-CDG |
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Fetal anomalies v0.1 | ALG1 |
Rebecca Foulger gene: ALG1 was added gene: ALG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to ALG1-CDG |
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Fetal anomalies v0.1 | ALDOB |
Rebecca Foulger gene: ALDOB was added gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE |
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Fetal anomalies v0.1 | ALDOA |
Rebecca Foulger gene: ALDOA was added gene: ALDOA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII |
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Fetal anomalies v0.1 | ALDH7A1 |
Rebecca Foulger gene: ALDH7A1 was added gene: ALDH7A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY |
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Fetal anomalies v0.1 | ALDH5A1 |
Rebecca Foulger gene: ALDH5A1 was added gene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | ALDH4A1 |
Rebecca Foulger gene: ALDH4A1 was added gene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 |
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Fetal anomalies v0.1 | ALDH3A2 |
Rebecca Foulger gene: ALDH3A2 was added gene: ALDH3A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME |
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Fetal anomalies v0.1 | ALDH1A3 |
Rebecca Foulger gene: ALDH1A3 was added gene: ALDH1A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA |
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Fetal anomalies v0.1 | ALDH18A1 |
Rebecca Foulger gene: ALDH18A1 was added gene: ALDH18A1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT |
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Fetal anomalies v0.1 | ALAD |
Rebecca Foulger gene: ALAD was added gene: ALAD was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA |
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Fetal anomalies v0.1 | AKT3 |
Rebecca Foulger gene: AKT3 was added gene: AKT3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 |
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Fetal anomalies v0.1 | AKT1 |
Rebecca Foulger gene: AKT1 was added gene: AKT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME |
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Fetal anomalies v0.1 | AKR1D1 |
Rebecca Foulger gene: AKR1D1 was added gene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 |
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Fetal anomalies v0.1 | AK2 |
Rebecca Foulger gene: AK2 was added gene: AK2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS |
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Fetal anomalies v0.1 | AIRE |
Rebecca Foulger gene: AIRE was added gene: AIRE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 |
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Fetal anomalies v0.1 | AIPL1 |
Rebecca Foulger gene: AIPL1 was added gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 |
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Fetal anomalies v0.1 | AIMP1 |
Rebecca Foulger gene: AIMP1 was added gene: AIMP1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 |
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Fetal anomalies v0.1 | AIFM1 |
Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME |
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Fetal anomalies v0.1 | AHI1 |
Rebecca Foulger gene: AHI1 was added gene: AHI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME |
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Fetal anomalies v0.1 | AHDC1 |
Rebecca Foulger gene: AHDC1 was added gene: AHDC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME |
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Fetal anomalies v0.1 | AGXT |
Rebecca Foulger gene: AGXT was added gene: AGXT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 |
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Fetal anomalies v0.1 | AGRN |
Rebecca Foulger gene: AGRN was added gene: AGRN was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial 615120 |
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Fetal anomalies v0.1 | AGPS |
Rebecca Foulger gene: AGPS was added gene: AGPS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 |
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Fetal anomalies v0.1 | AGPAT2 |
Rebecca Foulger gene: AGPAT2 was added gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594 |
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Fetal anomalies v0.1 | AGL |
Rebecca Foulger gene: AGL was added gene: AGL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III |
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Fetal anomalies v0.1 | AGK |
Rebecca Foulger gene: AGK was added gene: AGK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to SENGERS SYNDROME |
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Fetal anomalies v0.1 | AGA |
Rebecca Foulger gene: AGA was added gene: AGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA |
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Fetal anomalies v0.1 | AFF4 |
Rebecca Foulger gene: AFF4 was added gene: AFF4 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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Fetal anomalies v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease |
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Fetal anomalies v0.1 | AFF2 |
Rebecca Foulger gene: AFF2 was added gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME |
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Fetal anomalies v0.1 | ADSL |
Rebecca Foulger gene: ADSL was added gene: ADSL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY |
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Fetal anomalies v0.1 | ADNP |
Rebecca Foulger gene: ADNP was added gene: ADNP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 |
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Fetal anomalies v0.1 | ADGRG6 |
Rebecca Foulger gene: ADGRG6 was added gene: ADGRG6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 |
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Fetal anomalies v0.1 | ADGRG1 |
Rebecca Foulger gene: ADGRG1 was added gene: ADGRG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA |
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Fetal anomalies v0.1 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 |
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Fetal anomalies v0.1 | ADAMTSL2 |
Rebecca Foulger gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050 |
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Fetal anomalies v0.1 | ADAMTS17 |
Rebecca Foulger gene: ADAMTS17 was added gene: ADAMTS17 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani-like syndrome 613195 |
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Fetal anomalies v0.1 | ADAMTS10 |
Rebecca Foulger gene: ADAMTS10 was added gene: ADAMTS10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive 277600 |
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Fetal anomalies v0.1 | ADA |
Rebecca Foulger gene: ADA was added gene: ADA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY |
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Fetal anomalies v0.1 | ACY1 |
Rebecca Foulger gene: ACY1 was added gene: ACY1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY |
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Fetal anomalies v0.1 | ACVRL1 |
Rebecca Foulger gene: ACVRL1 was added gene: ACVRL1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376 |
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Fetal anomalies v0.1 | ACVR1 |
Rebecca Foulger gene: ACVR1 was added gene: ACVR1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA |
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Fetal anomalies v0.1 | ACTG2 |
Rebecca Foulger gene: ACTG2 was added gene: ACTG2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG2 were set to Visceral myopathy 155310 |
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Fetal anomalies v0.1 | ACTG1 |
Rebecca Foulger gene: ACTG1 was added gene: ACTG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME |
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Fetal anomalies v0.1 | ACTC1 |
Rebecca Foulger gene: ACTC1 was added gene: ACTC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTC1 were set to 24461919 Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 612794 |
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Fetal anomalies v0.1 | ACTB |
Rebecca Foulger gene: ACTB was added gene: ACTB was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME |
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Fetal anomalies v0.1 | ACTA2 |
Rebecca Foulger gene: ACTA2 was added gene: ACTA2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 |
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Fetal anomalies v0.1 | ACTA1 |
Rebecca Foulger gene: ACTA1 was added gene: ACTA1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3 |
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Fetal anomalies v0.1 | ACSL4 |
Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS |
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Fetal anomalies v0.1 | ACP5 |
Rebecca Foulger gene: ACP5 was added gene: ACP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION |
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Fetal anomalies v0.1 | ACOX1 |
Rebecca Foulger gene: ACOX1 was added gene: ACOX1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL |
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Fetal anomalies v0.1 | ACO2 |
Rebecca Foulger gene: ACO2 was added gene: ACO2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION |
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Fetal anomalies v0.1 | ACE |
Rebecca Foulger gene: ACE was added gene: ACE was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to Renal tubular dysgenesis 267430 |
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Fetal anomalies v0.1 | ACAT1 |
Rebecca Foulger gene: ACAT1 was added gene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA |
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Fetal anomalies v0.1 | ACAN |
Rebecca Foulger gene: ACAN was added gene: ACAN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY |
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Fetal anomalies v0.1 | ACADVL |
Rebecca Foulger gene: ACADVL was added gene: ACADVL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | ACADS |
Rebecca Foulger gene: ACADS was added gene: ACADS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | ACADM |
Rebecca Foulger gene: ACADM was added gene: ACADM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY |
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Fetal anomalies v0.1 | ACAD9 |
Rebecca Foulger gene: ACAD9 was added gene: ACAD9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY |
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Fetal anomalies v0.1 | ABL1 |
Rebecca Foulger gene: ABL1 was added gene: ABL1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations |
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Fetal anomalies v0.1 | ABHD5 |
Rebecca Foulger gene: ABHD5 was added gene: ABHD5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME |
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Fetal anomalies v0.1 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE |
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Fetal anomalies v0.1 | ABCD1 |
Rebecca Foulger gene: ABCD1 was added gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED |
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Fetal anomalies v0.1 | ABCC9 |
Rebecca Foulger gene: ABCC9 was added gene: ABCC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA |
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Fetal anomalies v0.1 | ABCC8 |
Rebecca Foulger gene: ABCC8 was added gene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450 |
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Fetal anomalies v0.1 | ABCC6 |
Rebecca Foulger gene: ABCC6 was added gene: ABCC6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 |
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Fetal anomalies v0.1 | ABCB7 |
Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA |
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Fetal anomalies v0.1 | ABCB11 |
Rebecca Foulger gene: ABCB11 was added gene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS |
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Fetal anomalies v0.1 | ABCA12 |
Rebecca Foulger gene: ABCA12 was added gene: ABCA12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 242500 |
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Fetal anomalies v0.1 | AASS |
Rebecca Foulger gene: AASS was added gene: AASS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AASS were set to HYPERLYSINEMIA |
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Fetal anomalies v0.1 | AARS |
Rebecca Foulger gene: AARS was added gene: AARS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. |
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Fetal anomalies v0.1 | AAAS |
Rebecca Foulger gene: AAAS was added gene: AAAS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME |
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Fetal anomalies v0.0 |
Ellen McDonagh Added Panel Fetal anomalies Set panel types to: GMS Rare Disease Virtual |