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COVID-19 research

Gene: JAK1

Green List (high evidence)

JAK1 (Janus kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000162434
EnsemblGeneIds (GRCh37): ENSG00000162434
OMIM: 147795, Gene2Phenotype
JAK1 is in 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AD GOF (Causes JAK1 GOF. Hyperactive JAK1. Associated with HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections), AR LOF (causes JAK1 deficiency. Affects N + L cells. Reduced JAK1 activation to cytokines, Reduced IFN-gamma production. Associated with susceptibility to mycobacteria and viruses, urothelial carcinoma).
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications suggested from external expert review to support gene-disease association
Created: 6 Jul 2018, 1:51 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 6 Jul 2018, 1:50 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): JAK1 .PanelApp HGNC gene symbol check: JAK1 . IUIS Disease: JAK1 . IUIS Inheritance: AD GOF .T cells: N/A, .B cells: Not assessed, .IUIS Other affected cells: N/A. IUIS Associated features: HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): JAK1 .PanelApp HGNC gene symbol check: JAK1 . IUIS Disease: JAK1 . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + L. IUIS Associated features: Susceptibility to mycobacteria and viruses, urothelial carcinoma. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Mendelian Susceptibility to mycobacterial disease (MSMD).
Created: 2 Jul 2018, 10:55 a.m.

Sophie Hambleton (Newcastle University)

Red List (low evidence)

one kindred each so far published with AR loss and AD gain of function variants, producing allelic disorders.
Created: 29 Jun 2018, 9:31 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
hypereosinophilic syndrome; susceptibility to mycobacterial and viral infections

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2025
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
OMIM
147795
Clinvar variants
Variants in JAK1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2025 was added to JAK1. Mode of inheritance for gene JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to JAK1. Added phenotypes Hypereosinophilic syndrome; HSM, eosinophilia, 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, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: JAK1 was added gene: JAK1 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JAK1 were set to 28111307; 32086639; 32048120 Phenotypes for gene: JAK1 were set to Hypereosinophilic syndrome; HSM, eosinophilia, 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, eosinophilic enteritis, thyroid disease, poor growth, viral infections Mode of pathogenicity for gene: JAK1 was set to Other - please provide details in the comments