Condition: Absent corpus callosum cataract immunodeficiency


rs1470797555 in EPG5 gene and Absent corpus callosum cataract immunodeficiency PMID 23222957 2013 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

PMID 23674064 2013 Role of Epg5 in selective neurodegeneration and Vici syndrome.

PMID 26917586 2016 EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

PMID 29130391 2018 The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

PMID 25331754 2014 First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

PMID 27343256 2016 Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

PMID 28168853 2017 Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.