JAK1

Janus kinase 1
OMIM: 147795, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green JAK1 in COVID-19 research Level 2: Viral research Version 1.146	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
Green JAK1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other IUIS Classification December 2019 IUIS Classification February 2018 Phenotypes Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999 Tags mosaicism somatic
Amber JAK1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558 dilated cardiomyopathy, MONDO:0005021