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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. TAF1
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: TAF1

Amber List (moderate evidence)
TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 8 panels

1 review

Emily Jones (North Bristol NHS Trust)

I don't know

See comments on Early Onset dystonia panel
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TAF1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1

2 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TAF1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TAF1 was added gene: TAF1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: TAF1 was set to