Genomics England
GMS Panels
Panels
Genes and Entities

GJB6

gap junction protein beta 6
OMIM: 604418
PanelMode of inheritanceDetails
2 panels
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 3.0
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 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ectodermal dysplasia 2, Clouston type, OMIM:129500