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  2. Defects of intrinsic and innate immunity
  3. JAK1
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Defects of intrinsic and innate immunity

Gene: JAK1

Amber List (moderate evidence)
JAK1 (Janus kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000162434
EnsemblGeneIds (GRCh37): ENSG00000162434
OMIM: 147795, Gene2Phenotype
JAK1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported, mouse model with NK cell defect.
Sources: Expert list
Created: 5 Apr 2020, 7:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

Publications

Created: 5 Apr 2020, 7:21 a.m.

Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Susceptibility to mycobacteria and viruses
  • Viral infections
  • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
OMIM
147795
Clinvar variants
Variants in JAK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses to Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jak1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jak1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAK1 was added gene: JAK1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: JAK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAK1 were set to 28008925; 30671064 Phenotypes for gene: JAK1 were set to Susceptibility to mycobacteria and viruses Review for gene: JAK1 was set to AMBER