Amyotrophic lateral sclerosis/motor neuron disease
Gene: TBK1
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
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.
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for TBK1 were set to 25700176; 25803835; 26350399; 27260353
TBK1 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Literature
TBK1 was created by ellenmcdonagh