SASH3

SAM and SH3 domain containing 3
OMIM: 300441, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SASH3 in Mendeliome


Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 102, MIM# 301082

Green SASH3 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 102, MIM# 301082

Green SASH3 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 102, MIM# 301082