Early-onset Parkinson disease
Gene: TAF1

TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added as an STR to the panel
Created: 28 Aug 2021, 10:21 a.m. | Last Modified: 28 Aug 2021, 10:21 a.m.

Panel Version: 0.117

Created: 28 Aug 2021, 10:21 a.m.
Last Modified: 28 Aug 2021, 10:21 a.m.
Panel version: 0.117

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Founder Filipino variant: short interspersed nuclear element, variable number of tandem repeats, and Alu composite retrotransposon insertion in an intron. This would be difficult to detect by most NGS assays. Note SNVs in this gene are associated with intellectual disability.
Created: 23 Sep 2020, 12:09 a.m. | Last Modified: 23 Sep 2020, 12:09 a.m.

Panel Version: 0.75

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dystonia-Parkinsonism, X-linked, MIM# 314250

Publications

17273961

Created: 23 Sep 2020, 12:09 a.m.
Last Modified: 23 Sep 2020, 12:09 a.m.
Panel version: 0.75

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Removed
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Dystonia-Parkinsonism, X-linked, MIM# 314250

Tags

STR deep intronic founder

OMIM

313650

Clinvar variants

Variants in TAF1

Penetrance

None

Publications

17273961

Panels with this gene

History Filter Activity

22 Feb 2024, Gel status: 0

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: TAF1.

28 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: taf1 has been removed from the panel.

23 Sep 2020, Gel status: 2