Parkinson Disease and Complex Parkinsonism
Gene: TOR1AMonoallelic 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
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.
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
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
Phenotypes for TOR1A were set to Early-Onset Primary Dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1);primary torsion dystonia (DYT1), early-onset isolated dystonia
Publications for TOR1A were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;20301665
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TOR1A was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
TOR1A was created by ellenmcdonagh