Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R164 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Epidermolytic hyperkeratosis, OMIM:113800 |
Green in Ichthyosis and erythrokeratodermaR-numbers: R165 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epidermolytic hyperkeratosis (EHK), OMIM:113800, ichthyosis with confetti, OMIM:609165, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Ichythosis with confetti, Pachyonychia congenita |
Green in Palmoplantar keratodermasR-numbers: R166 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pachyonychia congenita, Palmoplantar keratoderma, Ichythosis with confetti, Epidermolytic hyperkeratosis |
Green in Pigmentary skin disordersR-numbers: R236 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CRIE, Ichythosis with confetti, Pachyonychia congenita, Palmoplantar keratoderma, Epidermolytic hyperkeratosis, ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR |