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


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

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