L2HGDH

L-2-hydroxyglutarate dehydrogenase
OMIM: 609584
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-HYDROXYGLUTARIC ACIDURIA 236792
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-HYDROXYGLUTARIC ACIDURIA
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
L-2-hydroxyglutaric aciduria, 236792
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
L-2-hydroxyglutaric aciduria, 236792, L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792