GRHPR

glyoxylate and hydroxypyruvate reductase
OMIM: 604296, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GRHPR in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperoxaluria, primary, type II, MIM# 260000
  • MONDO:0009824

Green GRHPR in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type II

Red GRHPR in Prepair 1000+


Level 2: Screening
Version 3.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperoxaluria, primary, type II (MIM#260000)

Green GRHPR in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • primary hyperoxaluria type 2 MONDO:0009824
  • Disorders of glyoxylate and oxalate metabolism

Green GRHPR in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hyperoxaluria, primary, type II, MIM# 260000
Tags
  • treatable
  • clinical trial
  • metabolic

Green GRHPR in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

1 review 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