Autoinflammatory disorders

Gene: TBK1

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 10 Dec 2025, 2:17 p.m. | Last Modified: 10 Dec 2025, 2:17 p.m.

Panel Version: 2.34

Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available (three unrelated families and functional evidence) for the association of biallelic TBK1 variants with autoinflammatory disorder. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 16 Jun 2025, 11:28 a.m. | Last Modified: 16 Jun 2025, 11:31 a.m.

Panel Version: 2.24

PMID:34363755 reported the identification of three different homozygous loss-of-function variants in TBK1 gene in four patients from three unrelated families. All of them presented with chronic and systemic autoinflammation, but not severe viral infections. Supporting functional evidence is also available.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620880).

Created: 16 Jun 2025, 11:25 a.m. | Last Modified: 16 Jun 2025, 11:30 a.m.

Panel Version: 2.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoinflammation with arthritis and vasculitis, OMIM:620880

Publications

• 34363755

Green List (high evidence)

Sources: Expert list, Expert Review, Literature

Created: 4 Jun 2025, 4:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
chronic and systemic autoinflammation driven by TNF-induced cell death

Publications

• PMID: 34363755
• PMID: 34210994
• PMID: 28148298
• PMID: 34363755