Early-onset Dementia
Gene: GCH1
GCH1 (GTP cyclohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
One out of 15 dystonia/parkinson disease cases caused by GCH1 mutations, had cognitive decline. Dementia and cognitive decline are not prominent features of the conditions caused by this gene.Created: 6 Feb 2020, 3:37 a.m. | Last Modified: 6 Feb 2020, 3:37 a.m.
Panel Version: 0.2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia MIM#128230; Hyperphenylalaninemia, BH4-deficient, B MIM#233910
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- None
- 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
21 Aug 2023, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gch1 has been classified as Red List (Low Evidence).
6 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gch1 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GCH1 was added gene: GCH1 was added to Early-onset Dementia_MGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: GCH1 was set to Unknown