Neurodegenerative disorders - adult onsetGene: TAF15
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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
Individuals reported with variants in gene. No familial studies found. Functional studies in Drosophila eye model. No additional clearly pathogenic variants using Sheffield panel.
Created: 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
Amyotrophic lateral sclerosis
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Red was added to TAF15. Rating Changed from Green List (high evidence) to Red List (low evidence)
Mode of inheritance for gene TAF15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis for gene: TAF15 Publications for gene TAF15 were changed from to 22065782; 26601740
Source NHS GMS was added to TAF15.
Source Yorkshire and North East GLH was added to TAF15.
gene: TAF15 was added gene: TAF15 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: TAF15 was set to