HOGA1

4-hydroxy-2-oxoglutarate aldolase 1
OMIM: 613597
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
Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Hyperoxaluria, primary, type III 613616
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria, Hyperoxaluria, primary, type III, 613616, Hyperoxaluria
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperoxaluria, Primary Hyperoxaluria, Hyperoxaluria, primary, type III, 613616