Complex Parkinsonism (includes pallido-pyramidal syndromes)

Gene: GCH1

Green List (high evidence)

GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 17 panels

1 review

Ellen McDonagh (Genomics England Curator)

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, 10:51 a.m.

History Filter Activity

10 Jun 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).

10 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GCH1 was created by ellenmcdonagh

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GCH1 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert list