Parkinson Disease and Complex Parkinsonism
Gene: TH
Not clear whether TH mutations are associated with adult parkinson diseaseCreated: 29 Nov 2016, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
infantile dopa-responsive dystonia; progressive parkinsonism with generalised dystonia
Comment on list classification: Multiple cases/families reported for Segawa syndrome. Also green on the Early onset dystonia gene panel, Version 1.0.Created: 2 Nov 2016, 4:52 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, 11:40 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for TH were set to Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia;infantile parkinsonism
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TH was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
TH was created by ellenmcdonagh