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  3. THAP1
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Early onset dystonia

Gene: THAP1

Green List (high evidence)
THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 8 panels

2 reviews

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

Comment from the Parkinson panel: 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: 15 Dec 2016, 11:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
DYT6

Created: 15 Dec 2016, 11:10 a.m.

Panel version: 1.1

Ellen McDonagh (Genomics England Curator)

Comment on list classification: It is a 'both DD and IF' gene for Dystonia 6, Torsion in Gene2Phenotype and multiple families reported in OMIM, with different variants from different ehnicities.
Created: 25 Aug 2016, 10:17 a.m.
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, 8:58 a.m.
Comment on list classification: Should be green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.
Created: 10 Jun 2016, 7:33 a.m.
Created: 10 Jun 2016, 7:33 a.m.

Panel version: 0.113

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

25 Aug 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).

10 Jun 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).

10 Jun 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).

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

THAP1 was added to Early onset dystoniapanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

THAP1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

THAP1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

THAP1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services