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| Skeletal dysplasia v2.116 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from Oculodentodigital dysplasia 164200; Syndactyly, type III 186100; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Hypoplastic left heart syndrome 1 241550 to Craniometaphyseal dysplasia, autosomal recessive, OMIM:218400; Oculodentodigital dysplasia, OMIM:164200; Oculodentodigital dysplasia, autosomal recessive, OMIM:257850; Syndactyly, type III, OMIM:186100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.153 | GJA1 | Eleanor Williams Added phenotypes Oculodentodigital dysplasia 164200; Syndactyly, type III 186100; Erythrokeratodermia variabilis et progressiva 133200; Palmoplantar keratoderma with congenital alopecia 104100; Oculodentodigital dysplasia, autosomal recessive 257850; Craniometaphyseal dysplasia, autosomal recessive 218400; Hypoplastic left heart syndrome 1 241550 for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | GJA1 | Tracy Lester reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniometaphyseal dysplasia, autosomal recessive 218400, Erythrokeratodermia variabilis et progressiva 133200, Hypoplastic left heart syndrome 1 241550, Oculodentodigital dysplasia 164200, Oculodentodigital dysplasia, autosomal recessive 257850, Palmoplantar keratoderma with congenital alopecia 104100, Syndactyly, type III 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | GJA1 | Eleanor Williams reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | GJA1 |
Eleanor Williams Source NHS GMS was added to GJA1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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