Parkinson Disease and Complex Parkinsonism

Gene: THAP1

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

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.