Epileptic encephalopathyGene: IDH2
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.
5 May 2017, 7:41 a.m.
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.
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.
20 Mar 2017, 12:18 p.m.
Mode of inheritance
D-2-hydroxyglutaric aciduria 2 613657
Publications for IDH2 were set to 20847235;24049096
Mode of inheritance for IDH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for IDH2 was changed to Other - please specifiy in evaluation comments
This gene has been classified as Green List (High Evidence).
IDH2 was created by sleigh
IDH2 was added to Epileptic encephalopathypanel. Sources: Expert Review