Dystonia - childhood onset
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- GTP-cyclohydrolase deficiency
- Hyperphenylalaninemia, BH4-deficient, B, 233910
- Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230
- Dopa-Responsive Dystonia (DRD)
- Tags
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: GCH1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GCH1 was added gene: GCH1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 20301681; 15753436; 12552057; 10732814; 2296384; 11346370; 3041760; 9667588; 8163996; 7874165; 7730309; 3762960; 6734669; 20301334; 11113234; 3400489; 3822637; 10208576; 16908750; 1899474; 10987649; 945938; 7869202; 12084887; 27830117; 942621; 17111153 Phenotypes for gene: GCH1 were set to GTP-cyclohydrolase deficiency; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)