SASH3

SAM and SH3 domain containing 3
OMIM: 300441, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green SASH3 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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