Cerebral Palsy
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
1 review
Clare van Eyk (University of Adelaide)
Mutations in the GTP cyclohydrolase I gene (GCH1) are associated with early onset dopa-responsive dystonia with or without hyperphenylalaninemia which is frequently clinically diagnosed as cerebral palsy (PMID: 21935284; 1899474; 33875303; 34908184).
Sources: LiteratureCreated: 24 Jul 2024, 1:04 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, MIM#128230; Hyperphenylalaninemia, BH4-deficient, B, MIM#233910
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dystonia, DOPA-responsive, MIM#128230
- Hyperphenylalaninemia, BH4-deficient, B, MIM#233910
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- None
- Publications
- 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).
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 publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: GCH1 was added gene: GCH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCH1 were set to PMID: 21935284; 1899474; 33875303; 34908184 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, MIM#128230; Hyperphenylalaninemia, BH4-deficient, B, MIM#233910 Review for gene: GCH1 was set to GREEN