Activity
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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 |
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