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Newborns main panel

Gene: JAK1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 10 Oct 2023, 2:52 p.m. | Last Modified: 10 Oct 2023, 2:52 p.m.
Panel Version: 0.247
PMID: 32750333 - 1 case PMID: 28111307 - 1 family of 3
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Autoinflammation, immune dysregulation, and eosinophilia
OMIM
147795
Clinvar variants
Variants in JAK1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to JAK1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: JAK1 was added gene: JAK1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAK1 were set to Autoinflammation, immune dysregulation, and eosinophilia Mode of pathogenicity for gene: JAK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments