Genomics England
GMS Panels
Panels
Genes and Entities

IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
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