Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Ectodermal dysplasiaR-numbers: R163 Signed-off version 1.10 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes hypotrichosis simplex of the scalp, HYPT2, Hypotrichosis 2, 146520 |
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 keratodermasR-numbers: R166 Signed-off version 1.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Desmosomal disorders |