D2HGDH

D-2-hydroxyglutarate dehydrogenase
OMIM: 609186
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria, 600721
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L2-Hydroxyglutaric aciduria