Genomics England
GMS Panels
Panels
Genes and Entities

GJB4

gap junction protein beta 4
OMIM: 605425
PanelMode of inheritanceDetails
3 panels
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrokeratodermia variabilis, EKVP2, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 2, OMIM:617524