1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. TBK1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: TBK1

Green List (high evidence)
TBK1 (TANK binding kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000183735
EnsemblGeneIds (GRCh37): ENSG00000183735
OMIM: 604834, Gene2Phenotype
TBK1 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 23 Apr 2019, 1:13 p.m.
Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
OMIM
604834
Clinvar variants
Variants in TBK1
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TBK1 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439

29 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: TBK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tbk1 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TBK1.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TBK1 was added gene: TBK1 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: TBK1 was set to