Neurotransmitter disorders
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype.
This is a confirmed DD gene for Dystonia Type 5. Multiple cases and different variants reported in OMIM for associations with Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.Created: 25 May 2017, 10:38 a.m.
Added treatable tag; Clinical Genomic Database Comments (NIH/NHGRI):
In Hyperphenylalaninemia, BH4-deficient, B and Autosomal Recessive Dopa-Responsive Dystonia with or without Hyperphenylalaninemia, B, medical therapy (eg, BH-4, 5-HT, L-dopa) may be beneficial; In GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia, which may not be easily clinically recognizable early, L-dopa can be effectiveCreated: 25 May 2017, 10:23 a.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dopa-responsive dystonia
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, with or without hyperphenylalaninemia, (AD/AR),128230
- Dopa-responsive dystonia
- Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910
- GTP-cyclohydrolase deficiency
- Tags
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Louise Daugherty (Genomics England Curator)Publications for GCH1 were set to 20301334; 10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681; 27830117
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set publications
Louise Daugherty (Genomics England Curator)Publications for GCH1 were set to 20301334; 10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681;27830117
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910; GTP-cyclohydrolase deficiency
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR),128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR) 233910
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for GCH1 were set to 20301334;10732814; 942621; 945938; 6734669; 3762960; 3822637; 3400489; 3041760; 2296384; 1899474; 8163996; 7874165; 7869202; 7730309; 9667588; 10208576; 10987649; 11113234; 11346370; 12084887; 12552057; 15753436; 16908750; 17111153; 20301681
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-responsive dystonia
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, (AD/AR), 128230; Dopa-responsive dystonia; Hyperphenylalaninemia, BH4-deficient, B, (AR), 233910
Created
Manju Kurian (UCL-Institute of Child Health)GCH1 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)GCH1 was added to Neurotransmitter disorderspanel. Sources: Literature