Parkinson Disease and Complex Parkinsonism
Gene: GCH1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
dystonia (dopa responsive); parkinsonism
Comment on list classification: Also green on the Early onset dystonia gene panel, Version 1.0.Created: 28 Oct 2016, 12:49 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, and is within the section regarding genetic testing for Parkinson's Disease and Parkinsonism for dopa responsive dystonia: "This may sometimes present as a young onset parkinsonian syndrome with or without dystonia. Patients are very responsive to L-dopa and the disease gene that should be tested in most instances is the GCH1 gene."Created: 10 Jun 2016, 10:49 a.m.
19th Dec 2016: panel revised according to expert review and further curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
GCH1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list
GCH1 was created by ellenmcdonagh