Parkinson Disease and Complex Parkinsonism

Gene: GCH1

Green List (high evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 16 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

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.

Details

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and further curation.

28 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GCH1 was added to Parkinson Disease and Complex Parkinsonismpanel. Sources: Expert list

19 Oct 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GCH1 was created by ellenmcdonagh