Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: JAK1

Red List (low evidence)

JAK1 (Janus kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000162434
EnsemblGeneIds (GRCh37): ENSG00000162434
OMIM: 147795, Gene2Phenotype
JAK1 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to gene JAK1 (OMIM gene MIM#147795): 28111307. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to mycobacteria and viruses, urothelial carcinoma
  • Hypereosinophilic syndrome
  • Defects in Intrinsic and Innate Immunity
  • Diseases of Immune Dysregulation
  • HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections
  • 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

13 Oct 2020, Gel status: 1

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to JAK1. Publications for gene JAK1 were updated from 32048120; 28111307; 32086639 to 32086639; 28111307; 32048120

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to JAK1. Mode of inheritance for gene JAK1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diseases of Immune Dysregulation; HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections for gene: JAK1 Publications for gene JAK1 were updated from 28111307 to 32048120; 28111307; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: jak1 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: JAK1 was changed to Other - please provide details in the comments

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: JAK1 were set to 28111307

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: JAK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: JAK1 were set to 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; Hypereosinophilic syndrome

1 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: JAK1 were set to 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

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

JAK1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

JAK1 was created by Louise Daugherty