This Panel is marked as Internal
Dystonia - childhood onset
Gene: HPRT1
HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: HPRT1 was added gene: HPRT1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Unknown Phenotypes for gene: HPRT1 were set to Dystonia