GJB3

gap junction protein beta 3
OMIM: 603324
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644, DEAFNESS, AUTOSOMAL RECESSIVE, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hearing loss, Nonsyndromic Hearing Loss, Dominant, Erythrokeratodermia variabilis et progressiva, 133200, Deafness, autosomal dominant 2B, 612644, Deafness, autosomal recessive, Deafness, autosomal dominant, with peripheral neuropathy, Deafness, digenic, GJB2/GJB3, 220290
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratoderma, deafness, Erythrokeratodermia variabilis et progressiva, 133200, peripheral neuropathy, Erythrokeratodermia Variabilis
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1, EKVP1, Erythrokeratodermia variabilis
R-numbers: R332
Signed-off version 1.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis