Skeletal dysplasia
Gene: IDH1EnsemblGeneIds (GRCh38): ENSG00000138413
EnsemblGeneIds (GRCh37): ENSG00000138413
OMIM: 147700, Gene2Phenotype
IDH1 is in 8 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- Tags
- OMIM
- 147700
- Clinvar variants
- Variants in IDH1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: IDH1 were changed from Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 to 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
Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)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
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to IDH1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for IDH1 were set to 22025298; 22057234
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000
Set publications
Sarah Leigh (Genomics England Curator)Publications for IDH1 were set to 22025298
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDH1 was changed to Unknown
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)IDH1 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)IDH1 was created by sleigh