Adult onset neurodegenerative disorder
Gene: HPRT1EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in infancyCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Dystonia
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Lesch-Nyhan syndrome, OMIM:300322
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Nephrocalcinosis or nephrolithiasis
- Undiagnosed metabolic disorders
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: HPRT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HPRT1 were changed from Dystonia to Lesch-Nyhan syndrome, OMIM:300322
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HPRT1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to HPRT1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: HPRT1 was added gene: HPRT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Unknown Phenotypes for gene: HPRT1 were set to Dystonia