DSG1

PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
R-numbers: R164
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508, Keratosis palmoplantaris striata I, AD, OMIM:148700
R-numbers: R165
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508, Keratosis palmoplantaris striata I, AD, OMIM:148700
R-numbers: R166
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Palmoplantar keratoderma, Congenital erythroderma with palmoplantar keratoderma, Desmosomal disorders