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.
Created: 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.
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
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