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Gene: TYK2

Green List (high evidence)
TYK2 (tyrosine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000105397
EnsemblGeneIds (GRCh37): ENSG00000105397
OMIM: 176941, Gene2Phenotype
TYK2 is in 4 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways.
Described in at least 10 unrelated families.
Created: 22 Jan 2025, 5:50 a.m. | Last Modified: 22 Jan 2025, 5:50 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 35, MIM #611521

Publications

Created: 22 Jan 2025, 5:50 a.m.
Last Modified: 22 Jan 2025, 5:50 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Immunodeficiency 35, MIM #611521
OMIM
176941
Clinvar variants
Variants in TYK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tyk2 has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TYK2 were changed from Immunodeficiency 35, 611521 (3) to Immunodeficiency 35, MIM #611521

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TYK2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TYK2 was added gene: TYK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)