Genomics England
GMS Panels
Panels
Genes and Entities

IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700
PanelMode of inheritanceDetails
2 panels
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ollier disease, Maffucci syndrome
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875, Maffucci syndrome 614569, Ollier disease/ Dyschondroplasia 166000