Parkinson Disease and Complex Parkinsonism
Gene: THAP1Monoallelic 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
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.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Red List (Low Evidence).
Phenotypes for THAP1 were set to Dystonia; Dystonia 6, torsion, 602629;DYT6
Publications for THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/;21793105
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).
THAP1 was created by ellenmcdonagh
THAP1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list