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Prepair 1000+

Gene: GRHPR

Red List (low evidence)

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

3 reviews

Michelle Torres (Victorian Clinical Genetics Services)

I don't know

Primary hyperoxaluria type 2 (PH2) is characterised by recurrent nephrolithiasis, nephrocalcinosis and end-stage kidney disease (ESKD) (GeneReviews PMID: 20301742). In a review of data collected through the OxalEurope Registry, of 83 individuals with PH2, 20% developed ESKD at follow up (GeneReviews).

It is thought to be less common than PH1. However, there may be ascertainment bias in that individuals with early signs of PH2 may be misclassified clinically as having PH1 on the grounds of severity of symptoms (GeneReviews).

Konkoľová J 2017 (PMID: 28569194) report a case of a 10-month-old patient diagnosed with urolithiasis, homozygous for p.(Thr152Asnfs*39) in the GRHPR gene. Proband was also homozygous for two variants in AGXT2 gene (red in PanelApp), rs37370 and rs180749, that were referred to in literature as responsible for the loss of AGXT2 activity. This paper has been listed in the 1st PanelApp review below.
Created: 9 Jan 2025, 3:37 a.m. | Last Modified: 9 Jan 2025, 3:37 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type II MIM#260000

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Predominantly renal manifestations with nephrolithiasis. Does not meet severity criteria.
Created: 18 Aug 2022, 6:53 a.m. | Last Modified: 18 Aug 2022, 6:53 a.m.
Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type II (MIM#260000)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Well established gene-disease association, more than 10 families reported.
Onset usually in infancy or early childhood, variable severity and some patients may be asymptomatic (OMIM; Gene Reviews)
Sources: Literature
Created: 25 Jul 2022, 2:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperoxaluria, primary, type II (MIM#260000)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hyperoxaluria, primary, type II (MIM#260000)
OMIM
604296
Clinvar variants
Variants in GRHPR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921

9 Sep 2022, Gel status: 1

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: GRHPR.

18 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grhpr has been classified as Red List (Low Evidence).

18 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grhpr has been classified as Red List (Low Evidence).

26 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: GRHPR.

25 Jul 2022, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: GRHPR was added gene: GRHPR was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921 Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (MIM#260000) Review for gene: GRHPR was set to AMBER