Epileptic encephalopathyGene: EPG5
Comment on list classification: Added to this panel due to input from Arianna Tucci (Genomics England Clinical Team), after reviewing the Vici panel.
Created: 28 Jul 2017, 2:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
This gene has been classified as Green List (High Evidence).
EPG5 was created by ellenmcdonagh
EPG5 was added to Epileptic encephalopathypanel. Sources: Expert Review