Amyotrophic lateral sclerosis/motor neuron disease
Gene: TBK1EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels
2 reviews
Alice Gardham (Genomics England)
Multiple reported cased in 2015 (at least 12) but documented reduced penetrance. Orphanet: only offered as diagnostic test in one lab in Germany. Not recognised on G2P.Created: 24 Nov 2016, 3:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is green on the Early onset dementia (encompassing fronto-temporal dementia and prion disease) Version 1.2 gene panel, and has multiple cases/reports for Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. However, it may be incomplete penetrance?Created: 3 Nov 2016, 7:07 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Amyotrophic lateral sclerosis
- fronto-temporal dementia
- OMIM
- 604834
- Clinvar variants
- Variants in TBK1
- Penetrance
- Incomplete
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TBK1 were set to 25700176; 25803835; 26350399; 27260353
Added New Source
Ellen McDonagh (Genomics England Curator)TBK1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Literature
Created
Ellen McDonagh (Genomics England Curator)TBK1 was created by ellenmcdonagh