SIT1

signaling threshold regulating transmembrane adaptor 1
OMIM: 604964, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list SIT1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 9.16
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Combined immunodeficiency
  • Hodgkin lymphoma
  • Abnormal T cell physiology
  • Impaired CD8+ T cell cytotoxicity