Defects of intrinsic and innate immunity

Gene: TBK1

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

• PMID: 34363755
• PMID: 22851595

Mode of pathogenicity
Other

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