Genomics England
GMS Panels
Panels
Genes and Entities

GJB2

gap junction protein beta 2
OMIM: 121011
PanelMode of inheritanceDetails
3 panels
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hystrix-like ichthyosis with deafness, OMIM:602540, Keratoderma, palmoplantar, with deafness, OMIM:148350, Keratitis-ichthyosis-deafness syndrome, OMIM:148210, Vohwinkel syndrome, OMIM:24500, Bart-Pumphrey syndrome, OMIM:149200
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
hearing loss, Deafness, autosomal recessive 1A, 220290, Deafness, autosomal dominant 3A, 601544, Vohwinkel syndrome, 124500, Keratoderma, palmoplantar, with deafness, 148350, Keratitis-ichthyosis-deafness syndrome, 148210, Hystrix-like ichthyosis with deafness, 602540, Bart-Pumphrey syndrome, 149200, Nonsyndromic Hearing Loss, Dominant, Hearing Loss or deafness
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix