With the advent of NGS, identification of new NPHP genes (NPHP10-20) alongside putative NPHP genes such as X-Prolyl Aminopeptidase 3 (XPNPEP3/NPHP1L), Solute Carrier Family 41 Member 1 (NPHP2L/SLC41A1), TRAF3 inter-acting protein 1 (TRAF3IP1), Abelson Helper Integration Site 1 (AH11/JBTS3), Coiled coil and C2 domain containing 2A (CC2D2A/MKS6/JBTS9) (novel or originally associated with syndromic ciliopathies) were rapidly linked to NPHP phenotypes [35,56,58,59,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123]. This evidence concerns the gene CC2D2A and ciliopathy.