SIT1

signaling threshold regulating transmembrane adaptor 1
OMIM: 604964, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SIT1 in Mendeliome


Version 2.19

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, SIT1-related

Amber SIT1 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Inborn error of immunity, MONDO:0003778, SIT1-related