Mosaic skin disorders - deep sequencing
Gene: IDH2EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
R172SCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Maffucci syndrome; Ollier disease
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
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: Green; 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, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ollier disease
- Maffucci syndrome
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Mosaic skin disorders - deep sequencing
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene IDH2 were changed from to 22057234
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to IDH2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: IDH2 was added gene: IDH2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS 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