Adult onset neurodegenerative disorder
Gene: TBK1
Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs - >3 casesCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FTLD; ALS; fronto-temporal dementia; Amyotrophic lateral sclerosis
Adult onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
FTLD; ALS; fronto-temporal dementia; Amyotrophic lateral sclerosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.
Phenotypes for gene: TBK1 were changed from FTLD; ALS; fronto-temporal dementia; Amyotrophic lateral sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439
Source Wessex and West Midlands GLH was added to TBK1.
Source Yorkshire and North East GLH was added to TBK1.
Source NHS GMS was added to TBK1.
Source London North GLH was added to TBK1.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes fronto-temporal dementia; Amyotrophic lateral sclerosis for gene: TBK1
gene: TBK1 was added gene: TBK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBK1 were set to 26350399; 25803835; 26581300; 26476236; 25700176; 27260353 Phenotypes for gene: TBK1 were set to ALS; FTLD