GRHPR

glyoxylate and hydroxypyruvate reductase
OMIM: 604296
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary hyperoxaluria type II (Disorders of glyoxylate metabolism), Hyperoxaluria, primary, type II
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Hyperoxaluria, primary, type II, 260000, Hyperoxaluria
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Primary Hyperoxaluria Type 2, Hyperoxaluria, primary, type II, 260000, Hyperoxaluria