Prepair 1000+

Gene: GRHPR

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

• 20301742
• 28569194

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)

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

• 28569194
• 10484776
• 10484776
• 24116921