KRT10

PanelMode of inheritanceDetails
5 panels
R-numbers: R164
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epidermolytic hyperkeratosis, OMIM:113800
R-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
R-numbers: R166
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita, Palmoplantar keratoderma, Ichythosis with confetti, Epidermolytic hyperkeratosis
R-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