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Epileptic encephalopathy

Gene: IDH2

Green List (high evidence)

IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 11 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)

Green List (high evidence)

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

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