Samples of 111 individuals were available, displaying one of the following renal ciliopathy phenotypes: polycystic kidney disease (ARPKD/ADPKD), nephronophthisis (NPH) or nephronophthisis related ciliopathies (NPH-RC), Bardet-Biedl Syndrome (BBS), and HNF1B nephropathy (HNF1B). The gene discussed is HNF1B; the disease is autosomal dominant polycystic kidney disease.