Genomics England
GMS Panels
Panels
Genes and Entities

GRHPR

glyoxylate and hydroxypyruvate reductase
OMIM: 604296
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary hyperoxaluria type II (Disorders of glyoxylate metabolism), Hyperoxaluria, primary, type II
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Hyperoxaluria, primary, type II, 260000, Hyperoxaluria