Parkinson Disease and Complex Parkinsonism
Gene: TOR1A

TOR1A (torsin family 1 member A)
EnsemblGeneIds (GRCh38): ENSG00000136827
EnsemblGeneIds (GRCh37): ENSG00000136827
OMIM: 605204, Gene2Phenotype
TOR1A is in 10 panels

2 reviews

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

Monoallelic mutations cause primary torsion dystonia (DYT1), early-onset isolated dystonia, plus plus childhood/adolescence onset, plus plus focal (but can be generalized). No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. One common mutation (c.907_909delGAG). Reduced penetrance. PMID 20301665 (gene review). 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
primary torsion dystonia (DYT1), early-onset isolated dystonia

Publications

20301665

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red as is a dystonia gene after discussion with Arianna, covered on the dystonia panel.
Created: 8 Dec 2016, 3:33 p.m.

Comment on list classification: Unsure whether this should be included on the Parkinsonism panel.
Created: 2 Nov 2016, 4:58 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, 11:49 a.m.

Created: 10 Jun 2016, 11:49 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Expert list

Phenotypes

Dystonia-1, torsion, OMIM:128100
Dystonic disorder, MONDO:0003441

OMIM

605204

Clinvar variants

Variants in TOR1A

Penetrance

Incomplete

Publications

http://www.ncbi.nlm.nih.gov/books/NBK1155/
20301665

Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TOR1A were changed from Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); primary torsion dystonia (DYT1), early-onset isolated dystonia to Dystonia-1, torsion, OMIM:128100; Dystonic disorder, MONDO:0003441

19 Dec 2016, Gel status: 1