Defects of intrinsic and innate immunity

Gene: TBK1

Green List (high evidence)

TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Monoallelic (haploinsufficient or dominant negative) mutations result in susceptibility to HSV. Biallelic LOF mutations with early onset autoinflammatory syndrome without susceptibility to viral infection.
Created: 27 Oct 2022, 4:05 a.m. | Last Modified: 27 Oct 2022, 4:05 a.m.
Panel Version: 0.126

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Autoinflammation; susceptibility to HSV

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary predisposition to infections, MONDO:0015979, TBK1-related

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
604834
Clinvar variants
Variants in TBK1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBK1 was added gene: TBK1 was added to Defects of innate immunity_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TBK1 was set to Unknown