Genomics England
GMS Panels
Panels
Genes and Entities

GJB6

gap junction protein beta 6
OMIM: 604418
PanelMode of inheritanceDetails
3 panels
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ectodermal dysplasia 2, Clouston type, 129500, Clouston syndrome, Hidrotic Ectodermal Dysplasia
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia 2, Clouston type, OMIM:129500
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 1B, OMIM:612645, autosomal recessive nonsyndromic hearing loss 1B, MONDO:0012977