Genomics England
GMS Panels
Panels
Genes and Entities

D2HGDH

D-2-hydroxyglutarate dehydrogenase
OMIM: 609186
PanelMode of inheritanceDetails
4 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria, 600721, generalized tonic-clonic seizures, absence seizures, tonic seizures, tonic-clonic seizures, myoclonic seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria, 600721
Green
in Likely inborn error of metabolism
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 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-2-hydroxyglutaric aciduria
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L2-Hydroxyglutaric aciduria