This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: GCH1
GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 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.
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)
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Fetal anomalies
- Neurotransmitter disorders
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Parkinson Disease and Complex Parkinsonism
- Early onset or syndromic epilepsy
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