Genomics England
GMS Panels
Panels
Genes and Entities

GRHPR

glyoxylate and hydroxypyruvate reductase
OMIM: 604296
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary hyperoxaluria type II (Disorders of glyoxylate metabolism), Hyperoxaluria, primary, type II
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Hyperoxaluria, primary, type II, 260000, Hyperoxaluria
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Hyperoxaluria, primary, type II, 260000, Hyperoxaluria