This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
-
- Victorian Clinical Genetics Services
- KidGen_MetabolicRenal v38.1.0
- Expert Review Green
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- Nephrocalcinosis or nephrolithiasis
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Likely inborn error of metabolism
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
History Filter Activity
23 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source Victorian Clinical Genetics Services was added to HPRT1.
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: HPRT1 was added gene: HPRT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0 Mode of inheritance for gene: HPRT1 was set to Unknown