Adult onset neurodegenerative disorder
Gene: TAF15

TAF15 (TATA-box binding protein associated factor 15)
EnsemblGeneIds (GRCh38): ENSG00000270647
EnsemblGeneIds (GRCh37): ENSG00000172660
OMIM: 601574, Gene2Phenotype
TAF15 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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

Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.106

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Phenotypes
Amyotrophic lateral sclerosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
NHS GMS
Yorkshire and North East GLH

Phenotypes

Amyotrophic lateral sclerosis

OMIM

601574

Clinvar variants

Variants in TAF15

Penetrance

None

Publications

Panels with this gene

Adult onset neurodegenerative disorder