Aminoacidopathy
Gene: GRHPREnsemblGeneIds (GRCh38): ENSG00000137106
EnsemblGeneIds (GRCh37): ENSG00000137106
OMIM: 604296, Gene2Phenotype
GRHPR is in 6 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene - disease association with reported individuals having abnormal biochemical function.
Sources: OtherCreated: 18 Jul 2024, 5:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
primary hyperoxaluria type 2 MONDO:0009824; Disorders of glyoxylate and oxalate metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- primary hyperoxaluria type 2 MONDO:0009824
- Disorders of glyoxylate and oxalate metabolism
- OMIM
- 604296
- Clinvar variants
- Variants in GRHPR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grhpr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: grhpr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: GRHPR was added gene: GRHPR was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 24116921 Phenotypes for gene: GRHPR were set to primary hyperoxaluria type 2 MONDO:0009824; Disorders of glyoxylate and oxalate metabolism Review for gene: GRHPR was set to GREEN