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Palmoplantar keratodermas v1.9 GJA1 Arina Puzriakova Phenotypes for gene: GJA1 were changed from Palmoplantar keratoderma to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100; Oculodentodigital dysplasia, OMIM:164200
Palmoplantar keratodermas v0.5 GJA1 Rebecca Foulger Source London North GLH was added to GJA1.
Palmoplantar keratodermas v0.4 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ; Mode of inheritance:
Palmoplantar keratodermas v0.3 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GJA1 were set to 25398053
Phenotypes for gene: GJA1 were set to Palmoplantar keratoderma