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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 |
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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 |