Epileptic encephalopathyGene: MDH2
MDH2 association with Epileptic encephalopathy, early infantile, 51 reported in 3 unrelated cases (PMID: 27989324).
As recommended by internal clinical team added as new Green gene in view of new evidence discovered as part of Intellectual Disability panel review
Created: 1 Mar 2018, 3:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epileptic encephalopathy, early infantile, 51 617339
This gene has been classified as Green List (High Evidence).
MDH2 was added to Epileptic encephalopathy panel. Sources: Literature
MDH2 was created by Eleanor Williams