Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Pigmentary skin disorders v1.50 GJB4 Arina Puzriakova Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis; EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Pigmentary skin disorders v0.27 GJB4 Catherine Snow Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 for gene: GJB4
Publications for gene GJB4 were changed from to 12648223
Pigmentary skin disorders v0.25 GJB4 Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2, EKVP2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pigmentary skin disorders v0.8 GJB4 Rebecca Foulger Source London North GLH was added to GJB4.
Pigmentary skin disorders v0.4 GJB4 Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pigmentary skin disorders v0.3 GJB4 Rebecca Foulger gene: GJB4 was added
gene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis