SASH1

SAM and SH3 domain containing 1
OMIM: 607955, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SASH1 in Mendeliome


Version 1.2655

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyschromatosis universalis hereditaria 1, MIM #127500
  • familial generalized lentiginosis MONDO:007891

Red SASH1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.134

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dyschromatosis universalis hereditaria 1 (MIM#127500)

Green SASH1 in Hereditary Pigmentary Disorders


Level 2: Dermatological disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • dyschromatosis universalis hereditaria 1 MONDO:0024524