PFIC12 is caused by a variant in the VPS33B gene, encoding the vacuolar sorting-associated protein 33B; the mutated gene can cause isolated cholestasis with low γGT, neonatal-onset jaundice, and conjugated hyperbilirubinemia, associated with intense pruritus and hepatosplenomegaly [36, 42]. Here, VPS33B is linked to cholestasis.