GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IDH1

IDH1 (isocitrate dehydrogenase (NADP(+)) 1, cytosolic)
EnsemblGeneIds (GRCh38): ENSG00000138413
EnsemblGeneIds (GRCh37): ENSG00000138413
OMIM: 147700, Gene2Phenotype
IDH1 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Note added by AW - IDH1 yes. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria). Test sensitivity??; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
NHS GMS

Phenotypes

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875
Maffucci syndrome 614569
Ollier disease/ Dyschondroplasia 166000

OMIM

147700

Clinvar variants

Variants in IDH1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: IDH1 was added gene: IDH1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: IDH1