Parkinson Disease and Complex Parkinsonism

Gene: THAP1

Red List (low evidence)

THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 9 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Monoallelic mutations cause DYT6 (features: early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties). This is a well known DYT6 gene, accounts for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases. PMID: 21793105. Consider moving this gene to the dystonia panel?
Created: 14 Dec 2016, 5:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DYT6

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This is a dystonia gene, green on dystonia panel therefore demoted this to red after discussion with Arianna.
Created: 8 Dec 2016, 3:32 p.m.
Comment on list classification: Clear evidence for Dystonia 6, torsion, and is a green gene on the Early onset dystonia gene panel Version 1.0, however unsure whether this should be included on this panel.
Created: 2 Nov 2016, 4:55 p.m.
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.
Created: 10 Jun 2016, 11:44 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
  • DYT6
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
  • 21793105
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

15 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Dec 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for THAP1 were set to Dystonia; Dystonia 6, torsion, 602629;DYT6

15 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;21793105

8 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Nov 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).

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

THAP1 was created by ellenmcdonagh

19 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THAP1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list