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Early onset and familial Parkinson's Disease

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Feedback from Huw Morris (UCL): has only been reported in a population in the Philippines. PMID: 17273961 - Study of 67 Filipino individuals (affected males) from 16 families in Panay. All patients had the disease-specific haplotype between DXS10017 and DXS10018 in the DYT3 region. They report finding a short interspersed nuclear element, variable number of tandem repeats and Alu composite retrotransposon insertion in an intron of TAF1, as well as an abnormal pattern of DNA methylation. A comment on this paper is found here: PMID: 17668393. Expression of this gene seems to be involved in the disorder, however whether loss of function variants within this gene would be causative is not clear. TAF1 variants have been reported to be associated with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, in male individuals PMID: 26637982.
Created: 10 Jun 2016, 11:36 a.m.
Created: 10 Jun 2016, 11:36 a.m.

Panel version: 0.39

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
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TAF1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TAF1 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Radboud University Medical Center, Nijmegen