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. Author manuscript; available in PMC: 2016 Dec 31.
Published in final edited form as: Nat Rev Nephrol. 2016 Jan 11;12(3):133–146. doi: 10.1038/nrneph.2015.205

Table 7.

Sixteen frequent and 66 infrequent monogenic causes of nephronophthisis-related ciliopathies (NPHP-RC).

Gene Protein References
NPHP1 (JBTS4) Nephrocystin-1 164,165
INVS (NPHP2) Inversin 166
NPHP3 Nephrocystin-3 167
NPHP4 Nephroretinin 168,169
IQCB1 (NPHP5) IQ motif containing B1 170
CEP290 (NPHP6) Centrosomal protein 290 kDa 171
GLIS2 (NPHP7) GLIS family zinc finger 2 172
RPGRIP1L (NPHP8) RPGRIP1-like/FTM 173
NEK8 (NPHP9) NIMA (never in mitosis gene A)- related kinase 8 174
SDCCAG8 (NPHP10) Serologically defined colon cancer antigen 8 175
TMEM67 (NPHP11) Transmembrane protein 67 176
TTC21B (NPHP12) Tetratricopeptide repeat domain 21B 177
WDR19 (NPHP13) WD repeat domain 19 178
ZNF423 (NPHP14) Zinc finger protein 423 179
CEP164 (NPHP15) Centrosomal protein 164 kDa 179
ANKS6 (NPHP16) Ankyrin repeat and sterile alpha motif domain containing 6 180

Monogenic (recessive) mutations in the following additional 66 genes also cause the nephronophthisis-related ciliopathies (NPHP-RC) Meckel syndrome, Senior-Loken syndrome, Joubert syndrome, or Bardet-Biedl syndrome, but less frequently:

XPNPEP3, ATXN10, FAN1, SLC41A1, HNF1B, CLDN16, CLDN19, BSND, SLC12A3, CLCNKB, AGXT, GRHPR, HOGA1, PKHD1, INPP5E, TMEM216, AHI1, ARL13B, CC2D2A, OFD1, KIF7, TCTN1, TMEM237, CEP41, TSGA14, TMEM138, C5orf42, TMEM231, CSPP1, PDE6D, TBC1D32, SCLT1, MKS1, TCTN2, B9D1, B9D2, KIF14, BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, PTHB1, C21orf58, TRIM32, C4orf24, WDPCP, LZTFL1, ALMS1, IFT122, WDR35, IFT140, C14ORF179, DYNC2H1, WDR34, WDR60, IFT80, IFT172, TRAF3IP1, NEK1, POC1A, EVC, and EVC2.