Genomics England
GMS Panels
Panels
Genes and Entities

SASH1

SAM and SH3 domain containing 1
OMIM: 607955
PanelMode of inheritanceDetails
1 panel
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo), DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1, DUH1, Dyschromatosis (het)