IDH2

isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
OMIM: 147650
PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias), D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2, 613657
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias), D-2-hydroxyglutaric aciduria 2, 613657
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
D-2-hydroxyglutaric aciduria 2 613657
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ollier disease, Maffucci syndrome