Genomics England
GMS Panels
Panels
Genes and Entities

KRT17

keratin 17
OMIM: 148069
PanelMode of inheritanceDetails
1 panel
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Steatocystoma multiplex, OMIM:184500, Pachyonychia congenita 2, OMIM:167210