Skeletal dysplasia
Gene: IDH1
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 WilkieCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IDH1; Initial rating suggestion: I don't knowCreated: 6 Mar 2019, 11:36 a.m.
Comment on mode of inheritance: Somatic variants thought to occur early in development, resulting in mosaicismCreated: 10 Apr 2017, 2:56 p.m.
Comment on mode of pathogenicity: Gain of function variants associated with Maffucci syndrome and Ollier disease (PMID: 22057234)Created: 10 Apr 2017, 2:50 p.m.
Comment on list classification: Somatic variants relevant to this gene, potentially resulting in mosaicismCreated: 8 Aug 2016, 1:10 p.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
Unknown
Phenotypes
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 for gene: IDH1 Publications for gene IDH1 were changed from 22025298; 22057234 to 24049096; 22025298; 22057234; 22057236
Source NHS GMS was added to IDH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for IDH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for IDH1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Publications for IDH1 were set to 22025298; 22057234
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Publications for IDH1 were set to 22025298
Mode of inheritance for IDH1 was changed to Unknown
This gene has been classified as Green List (High Evidence).
IDH1 was added to Unexplained skeletal dysplasiapanel. Sources:
IDH1 was created by sleigh