Genomics England
GMS Panels
Panels
Genes and Entities

CDSN

corneodesmosin
OMIM: 602593
PanelMode of inheritanceDetails
3 panels
Green
in Ectodermal dysplasia
R-numbers: R163
Signed-off version 1.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypotrichosis simplex of the scalp, HYPT2, Hypotrichosis 2, 146520
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:#270300, Peeling skin HP:0040189, erythema HP:0010783, Allergy HP:0012393, Peeling skin syndrome 1, 270300, Hyperkeratosis HP:0000962., Generalised erythroderma HP:0001019, PSS1, Increased IgE level HP:0003212, Pruritus HP:0000989
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Desmosomal disorders