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 3.14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyschromatosis universalis hereditaria 1, OMIM:127500 (AD), ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 (AR)