Pigmentary skin disordersGene: GJB4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GJB4; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
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
Source London North GLH was added to GJB4.
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