Parkinson Disease and Complex Parkinsonism
Gene: GCH1

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
dystonia (dopa responsive); parkinsonism

Created: 29 Nov 2016, 3:11 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

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.

Created: 10 Jun 2016, 10:49 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.18

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
Hyperphenylalaninemia, BH4-deficient, B, 233910
Dopa-Responsive Dystonia (DRD)
Dopa-Responsive Dystonia (DRD)

OMIM

600225

Clinvar variants

Variants in GCH1

Penetrance

Complete

Panels with this gene