This Panel is marked as Retired
Epileptic encephalopathy
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed from 'other' to monoallelic, due to reports of heterozygous variants to enable variants in this gene to be tiered.Created: 5 May 2017, 7:41 a.m.
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: >3 cases including PMID:20847235 who detected heterozygous germline variants in IDH2 that alter Arg140 in 15 unrelated patients with MIM:613657; in 14 cases the variant was de novo. The mother of 1 patient demonstrated germline mosaicism. PMID:24049096 also report a heterozygous IDH2 and the unaffected mother was a mosaic carrier. Somatic variants also reported.Created: 20 Mar 2017, 12:19 p.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 12:18 p.m.
Mode of inheritance
Other
Phenotypes
D-2-hydroxyglutaric aciduria 2 613657
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- D-2-hydroxyglutaric aciduria 2 613657
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- Complete
- Publications
- 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
5 May 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IDH2 were set to 20847235;24049096
5 May 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IDH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Mar 2017, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDH2 was changed to Other - please specifiy in evaluation comments
20 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)IDH2 was created by sleigh
20 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)IDH2 was added to Epileptic encephalopathypanel. Sources: Expert Review