JAK1

Janus kinase 1
OMIM: 147795, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green JAK1 in COVID-19 research


Level 2: Viral research
Version 1.141

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2025
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Hypereosinophilic syndrome
  • HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections
  • Diseases of Immune Dysregulation
  • Susceptibility to mycobacteria and viruses, urothelial carcinoma
  • Defects in Intrinsic and Innate Immunity
  • HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections
Amber JAK1 in Primary immunodeficiency or monogenic inflammatory bowel disease


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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999
Tags
  • mosaicism
  • somatic
  • Q4_23_promote_green
  • Q4_23_NHS_review