Renal ciliopathies are also associated with cystic kidney disease phenotypes, highlighted by autosomal dominant polycystic kidney disease (ADPKD), associated with pathological variants in polycystin-1 (PC1, encoded by PKD1) and polycystin-2 (PC2, encoded by PKD2) (Chebib et al., 2025; Bergmann et al., 2018; Orr and Sayer, 2023). Here, PKD2 is linked to autosomal dominant polycystic kidney disease.