ELP1 gene, which is located in the 9q31.3, 13Mb from PTCH1 locus (9q22.3), encodes for ELP1 protein, a component of the elongator complex which comprises 6 subunits (ELP1–6) and is implicated in neurogenesis.13,14 Remarkably, ELP1 PV systematically co-occur with PTCH1 biallelic inactivation in tumors, following the so-called “four hits-three steps” model, which strongly suggests that ELP1-deficiency predisposes to tumor development in combination with constitutive activation of SHH signaling. The gene discussed is ELP1; the disease is neoplasm.