GJB4

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