Paroxysmal Dyskinesia
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Eunice Chan (Royal Children's Hospital)
Treatable with benefit using levodopaCreated: 22 Apr 2020, 5:33 a.m. | Last Modified: 22 Apr 2020, 5:33 a.m.
Panel Version: 0.10
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dopa-responsive dystonia; exercise-induced dystonia
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dopa-responsive dystonia
- exercise-induced dystonia
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- None
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Regression
- Aminoacidopathy
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gch1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia; exercise-induced dystonia to Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gch1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eunice Chan (Royal Children's Hospital)gene: GCH1 was added gene: GCH1 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia; exercise-induced dystonia