Epileptic encephalopathyGene: ATP6V0A2
Associated with phenotype in OMIM, not in G2P. At least 4 homozygous variants reported in unrelated cases of Cutis laxa, autosomal recessive, type IIA 219200 (this phenotype includes delayed mental development, mental retardation and seizures). Speech delay reported in Wrinkly skin syndrome 278250
14 Dec 2017, 3:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250
This gene has been classified as Green List (High Evidence).
ATP6V0A2 was added to Epileptic encephalopathy panel. Sources: Literature
ATP6V0A2 was created by Sarah Leigh