Autoinflammatory Disorders
Gene: TBK1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with arthritis and vasculitis, MIM# 620880
4 individuals from 3 unrelated families with biallelic LOF mutations with early onset autoinflammatory syndrome without susceptibility to viral infection.
Sources: LiteratureCreated: 26 Jul 2022, 5:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation
Publications
Phenotypes for gene: TBK1 were changed from Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation to Autoinflammation with arthritis and vasculitis, MIM# 620880
Phenotypes for gene: TBK1 were changed from Autoinflammation to Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation
Gene: tbk1 has been classified as Green List (High Evidence).
Gene: tbk1 has been classified as Green List (High Evidence).
gene: TBK1 was added gene: TBK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: TBK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBK1 were set to PMID: 34363755 Phenotypes for gene: TBK1 were set to Autoinflammation Review for gene: TBK1 was set to GREEN