GJB2

gap junction protein beta 2
OMIM: 121011
PanelMode of inheritanceDetails
3 panels
R-numbers: R165
Signed-off version 2.1
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
R-numbers: R67
Signed-off version 3.3
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
R-numbers: R166
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix