Genomics England
GMS Panels
Panels
Genes and Entities

IDH2

isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
OMIM: 147650
PanelMode of inheritanceDetails
4 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
D-2-hydroxyglutaric aciduria 2 613657
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 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias), D-2-hydroxyglutaric aciduria 2, 613657
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ollier disease, Maffucci syndrome
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias), D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2, 613657