Defects of intrinsic and innate immunity
Gene: TBK1
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
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
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