Genes in panel

Adult onset movement disorder

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 9 panels

3 reviews

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

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 5 Aug 2019, 2:53 p.m. | Last Modified: 5 Aug 2019, 2:53 p.m.
Panel Version: 0.91
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

I don't know

See comments on Early Onset dystonia panel
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation)

Publications

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
  • London North GLH
  • NHS GMS
  • South West GLH
  • Expert Review Amber
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TAF1.

23 Apr 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia-Parkinsonism, X-linked, 314250; SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) for gene: TAF1 Publications for gene TAF1 were changed from 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 to 26637982; 23184149; 17668393; 17273961; 26769797; 2368812; 20301662; 26879577; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12928496

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TAF1.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TAF1.

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

gene: TAF1 was added gene: TAF1 was added to Adult onset movement disorder. Sources: Expert Review Amber Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAF1 were set to 12928496; http://www.ncbi.nlm.nih.gov/books/NBK1155/; PMID: 26637982; PMID: 26879577; 26637982; 17668393; PMID: 17273961; PMID: 12928496; 17273961; PMID: 23184149; PMID: 2368812; 20301662; PMID: 26769797 Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250; (NB complex mutation) Mode of pathogenicity for gene: TAF1 was set to Other - please provide details in the comments