Hereditary Spastic Paraplegia - paediatric
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
PMID: 33713342 - additional three patients (2 families) with heterozygous variants and HSP, all had onset in childhoodCreated: 27 Jun 2022, 6:21 a.m. | Last Modified: 27 Jun 2022, 6:21 a.m.
Panel Version: 1.30
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
There is a well established gene-disease association between mono allelic and bi-allelic variants in GCH1 with dystonia, Parkinsonism and complex movement disorders, which are L-dopa responsive. There are a couple of reports in the literature of an HSP phenotype associated with mono-allelic variants. It is unclear at present whether this a distinct association.
Sources: Expert listCreated: 2 Apr 2020, 2:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Hereditary spastic paraplegia MONDO:0019064, GCH1-related
- 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
Elena Savva (Victorian Clinical Genetics Services)Gene: gch1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: gch1 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GCH1 were set to 21935284; 24509643
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GCH1 were changed from Dystonia; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 to Hereditary spastic paraplegia MONDO:0019064, GCH1-related
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
Bryony Thompson (Royal Melbourne Hospital)Gene: gch1 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gch1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GCH1 was added gene: GCH1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230