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  3. TAF1
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Childhood onset dystonia, chorea or related movement disorder

Gene: TAF1

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

3 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Green rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019.
Created: 12 Dec 2019, 3:39 p.m. | Last Modified: 12 Dec 2019, 3:39 p.m.
Panel Version: 0.257
Comment on phenotypes: NB: complex mutation
Created: 7 Dec 2019, 8:48 p.m. | Last Modified: 7 Dec 2019, 8:48 p.m.
Panel Version: 0.116
Created: 7 Dec 2019, 8:48 p.m.
Last Modified: 7 Dec 2019, 8:48 p.m.
Panel version: 0.257

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

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: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH 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
  • South West GLH
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TAF1 were changed from (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 to Dystonia-Parkinsonism, X-linked, 314250

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to TAF1. 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 (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: TAF1 was added gene: TAF1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: TAF1 was set to