D2HGDH

D-2-hydroxyglutarate dehydrogenase
OMIM: 609186
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria, 600721, generalized tonic-clonic seizures, absence seizures, tonic seizures, tonic-clonic seizures, myoclonic seizures
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
D-2-hydroxyglutaric aciduria
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria, 600721
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L2-Hydroxyglutaric aciduria