This Panel is marked as Deleted
Nephrolithiasis and Nephrocalcinosis_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
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- Nephrocalcinosis or nephrolithiasis
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
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 Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPRT1 was set to Unknown