Genomics England
GMS Panels
Panels
Genes and Entities

DSG1

desmoglein 1
OMIM: 125670
PanelMode of inheritanceDetails
3 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508, Keratosis palmoplantaris striata I, AD, 148700
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Palmoplantar keratoderma, Congenital erythroderma with palmoplantar keratoderma, Desmosomal disorders