Newborns additional phenotypes panel 1
Gene: GCH1EnsemblGeneIds (GRCh38): ENSG00000131979
EnsemblGeneIds (GRCh37): ENSG00000131979
OMIM: 600225, Gene2Phenotype
GCH1 is in 15 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 7 Jul 2023, 9:22 a.m. | Last Modified: 7 Jul 2023, 9:22 a.m.
Panel Version: 0.31
PMID: 15753436 - 23 dominant cases PMID: 36204308 - 13 recessive cases https://search.clinicalgenome.org/kb/genes/HGNC:4193Created: 7 Jul 2023, 9:22 a.m. | Last Modified: 7 Jul 2023, 9:22 a.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal dominant
- OMIM
- 600225
- Clinvar variants
- Variants in GCH1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Neurotransmitter disorders
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency to Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal dominant
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to GCH1. Added phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency for gene: GCH1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set mode of inheritance
Mafalda Gomes (Genomics England Curator)Mode of inheritance for gene: GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: GCH1 was added gene: GCH1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCH1 were set to Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency