Genomics England
GMS Panels
Panels
Genes and Entities

GJB3

gap junction protein beta 3
OMIM: 603324
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200, DEAFNESS, AUTOSOMAL RECESSIVE
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.30
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva, OMIM:133200
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1, EKVP1, Erythrokeratodermia variabilis
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.22
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 1, OMIM:133200