Autoinflammatory Disorders
Gene: TBK1EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation with arthritis and vasculitis, MIM# 620880
Peter McNaughton (Queensland Children's Hospital)
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
- PMID: 34363755
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Autoinflammation with arthritis and vasculitis, MIM# 620880
- OMIM
- 604834
- Clinvar variants
- Variants in TBK1
- Penetrance
- None
- Publications
-
- PMID: 34363755
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBK1 were changed from Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation to Autoinflammation with arthritis and vasculitis, MIM# 620880
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TBK1 were changed from Autoinflammation to Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tbk1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tbk1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)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