Rare genetic inflammatory skin disordersGene: GJB3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Erythrokeratodermia variabilis et progressiva 1
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: GJB3; 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, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GJB3 were changed from Erythrokeratodermia variabilis et progressiva 1; Erythrokeratodermia variabilis to Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Added phenotypes Erythrokeratodermia variabilis et progressiva 1 for gene: GJB3 Publications for gene GJB3 were changed from to 10798362
Source London North GLH was added to GJB3.
gene: GJB3 was added gene: GJB3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis