Genomics England
GMS Panels
Panels
Genes and Entities

L2HGDH

L-2-hydroxyglutarate dehydrogenase
OMIM: 609584
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-HYDROXYGLUTARIC ACIDURIA 236792
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, OMIM:236792
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-HYDROXYGLUTARIC ACIDURIA
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792, L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA)
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
L-2-hydroxyglutaric aciduria, 236792