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  3. JAK1
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Disorders of immune dysregulation

Gene: JAK1

Green List (high 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)

Green List (high evidence)

PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.
Created: 29 Apr 2024, 7:46 a.m. | Last Modified: 29 Apr 2024, 7:46 a.m.
Panel Version: 0.185
Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Created: 5 Apr 2020, 3:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999; Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

Publications

Mode of pathogenicity
Other

Created: 5 Apr 2020, 3:54 a.m.

Panel version: 0.185

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Eosinophilia
  • Eosinophilic enteritis
  • Thyroid disease
  • Poor growth
  • Viral infections
  • Viral infections
  • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
OMIM
147795
Clinvar variants
Variants in JAK1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jak1 has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: JAK1 was added gene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAK1 were set to 28111307 Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections Mode of pathogenicity for gene: JAK1 was set to Other Review for gene: JAK1 was set to RED