Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | 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 |
Green in Ichthyosis and erythrokeratodermaR-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 |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Palmoplantar keratoderma, Congenital erythroderma with palmoplantar keratoderma, Desmosomal disorders |