GRHPR

glyoxylate and hydroxypyruvate reductase
OMIM: 604296, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green GRHPR in Mendeliome


Version 1.1891

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 0.278

review 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 1.9

review 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 1.128

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 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 BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review 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 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • 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