1. Panels
  2. Motor Neurone Disease
  3. TBK1
Regions in panel
Prev Next

Motor Neurone Disease

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene causative of amyotrophic lateral sclerosis (ALS)

PMID: 25803835 - Reported in >10 unrelated families with loss of function mutations confirmed via WES and in vitro studies.
Created: 18 May 2023, 4:50 a.m. | Last Modified: 18 May 2023, 4:50 a.m.
Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 4 (MIM#616439; mMONDO:0011223)

Publications

Created: 18 May 2023, 4:50 a.m.
Last Modified: 18 May 2023, 4:50 a.m.
Panel version: 0.138

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 4 (MIM#616439
  • MONDO:0011223)
OMIM
604834
Clinvar variants
Variants in TBK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBK1 were changed from to Amyotrophic lateral sclerosis 4 (MIM#616439; MONDO:0011223)

19 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBK1 were set to

19 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBK1 was added gene: TBK1 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: TBK1 was set to Unknown