GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: IDH2EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD. Several het cases with 613657 - all codon R140. Het missense variants (codon R140). Mosaic variants in enchondromas/ metaphyseal chondromatosis - ? Test sensitivity.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)
Publications
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Vascular skin disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- Undiagnosed metabolic disorders
- Mosaic skin disorders - deep sequencing
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IDH2 was added gene: IDH2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IDH2 were set to Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)