Genomics England
GMS Panels
Panels
Genes and Entities

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 4.15
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 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva, OMIM:133200
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
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
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
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 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 1, OMIM:133200