Genomics England
GMS Panels
Panels
Genes and Entities

IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875, Maffucci syndrome 614569, Ollier disease/ Dyschondroplasia 166000
Green
in Mosaic skin disorders - deep sequencing
R-numbers: R327
Signed-off version 3.0
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941, Maffucci syndrome, OMIM:614569, Maffucci syndrome, MONDO:0013808, Ollier disease/ Dyschondroplasia, OMIM:166000, Ollier disease, MONDO:0008145