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Severe Paediatric Disorders v0.17 | GJA1 | Louise Daugherty Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | GJA1 | Louise Daugherty reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | GJA1 | Louise Daugherty Publications for gene GJA1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | GJA1 | Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJA1 | Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | GJA1 | Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400; Palmoplantar keratoderma with congenital alopecia, 104100; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200 for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | GJA1 | Louise Daugherty Added phenotypes Oculodentodigital dysplasia, autosomal recessive, 257850; Atrioventricular septal defect 3, 600309; Erythrokeratodermia variabilis et progressiva 3, 617525; Hypoplastic left heart syndrome 1, 241550; Oculodentodigital dysplasia, 164200; Palmoplantar keratoderma with congenital alopecia, 104100; Syndactyly, type III, 186100; Craniometaphyseal dysplasia, autosomal recessive, 218400 for gene: GJA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | GJA1 | Louise Daugherty Source Next Generation Children Project was added to GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | GJA1 |
Louise Daugherty Source Expert Review Green was added to GJA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | GJA1 |
Louise Daugherty gene: GJA1 was added gene: GJA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GJA1 was set to |