Hereditary Spastic Paraplegia - adult onset
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Misdiagnosis as spasticity/CP documented. Treatable disorder. Include on panel due to phenotypic overlap.
Sources: Expert listCreated: 20 Sep 2020, 8:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Publications
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, MIM# 128230
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GCH1 was added gene: GCH1 was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 21935284; 24509643 Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Review for gene: GCH1 was set to GREEN