Genomics England
GMS Panels
Panels
Genes and Entities

CDSN

corneodesmosin
OMIM: 602593
PanelMode of inheritanceDetails
4 panels
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypotrichosis 2, OMIM:146520
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 1, OMIM:270300
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 1, OMIM:270300
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders