1. Panels
  2. Renal Tubulopathies and related disorders
  3. GRHPR
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: GRHPR

Green List (high evidence)
GRHPR (glyoxylate and hydroxypyruvate reductase)
EnsemblGeneIds (GRCh38): ENSG00000137106
EnsemblGeneIds (GRCh37): ENSG00000137106
OMIM: 604296, Gene2Phenotype
GRHPR is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 10 families reported.
Created: 29 Jul 2021, 12:19 a.m. | Last Modified: 29 Jul 2021, 12:19 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824

Publications

Created: 29 Jul 2021, 12:19 a.m.
Last Modified: 29 Jul 2021, 12:19 a.m.
Panel version: Imported from Hyperoxaluria panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperoxaluria, primary, type II, MIM# 260000
  • MONDO:0009824
OMIM
604296
Clinvar variants
Variants in GRHPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GRHPR was added gene: GRHPR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 11030416; 24116921; 10484776 Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824