Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: TBK1
TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels
2 reviews
simon mead (UCL)
Caroline Wright (Genomics England Curator)
Comment on list classification: Three publications in 2015 describing multiple variants found in cases of fronto-temporal lobe dementiaCreated: 10 May 2016, 1:01 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- FTLD
- ALS
- OMIM
- 604834
- Clinvar variants
- Variants in TBK1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Autoinflammatory disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- COVID-19 research
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 0
Set publications
Caroline Wright (Genomics England Curator)Publications for TBK1 were set to 26476236; 25803835; 26581300
9 Oct 2015, Gel status: 0
Added New Source
simon mead (UCL)TBK1 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Literature