Subtle clinical manifestations, in particular an apparently higher incidence of cataracts, vitiligo and certain cancers [82–85], have been observed in heterozygous EPG5 mutation carriers, suggesting either pathogenic haploinsufficiency or a toxic gain-of-function effect over time in cases where a truncated EPG5 protein is not subjected to intracellular decay. Here, EPG5 is linked to cataract.