IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875, Maffucci syndrome 614569, Ollier disease/ Dyschondroplasia 166000
R-numbers: R327
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ollier disease, Maffucci syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875, Maffucci syndrome 614569, Ollier disease/ Dyschondroplasia 166000