Amyotrophic lateral sclerosis/motor neuron disease

Gene: TBK1

Green List (high evidence)

TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 8 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

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

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 19th December 2016 following external review and internal curation

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Jun 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TBK1 were set to 25700176; 25803835; 26350399; 27260353

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TBK1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Literature

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TBK1 was created by ellenmcdonagh