Genes in panel

Neurodegenerative disorders - adult onset

Gene: TAF15

Red List (low evidence)

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

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

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

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to TAF15. Rating Changed from Green List (high evidence) to Red List (low evidence)

23 Jul 2019, Gel status: 3

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TAF15.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TAF15.

23 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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