Vascular skin disorders
Gene: IDH2
IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: IDH2; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 12:05 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Ollier disease
- Maffucci syndrome
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Early onset or syndromic epilepsy
- Vascular skin disorders
- Cytopenias and congenital anaemias
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Skeletal dysplasia
- Paediatric or syndromic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Likely inborn error of metabolism
History Filter Activity
18 Feb 2019, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to IDH2.
31 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: IDH2 was added gene: IDH2 was added to Vascular skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IDH2 were set to Ollier disease; Maffucci syndrome