Table 1

Genes investigated by massively parallel resequencing in 120 patients with severe nephronophthisis associated ciliopathies (NPHP-AC)

GeneLocus/proteinChromosomeAccession No.Exon countCoding exon countOpen reading frame size (bp)
NPHP1NPHP1/Nephrocystin 12NM_00027220202202
INVSNPHP2/Inversin9NM_01442517163198
NPHP3NPHP3/Nephrocystin 33NM_15324027273993
NPHP4NPHP4/Nephroretinin1NM_01510230294281
IQCB1NPHP5/IQ motif containing B13NM_00102357015131797
CEP290NPHP6/Centrosomal protein 290kDa12NM_02511454537440
GLIS2NPHP7/GLIS family zinc finger 216NM_032575661575
RPGRIP1LNPHP8/RPGRIP1-like16NM_01527227263948
NEK8NPHP9/NIMA related kinase 817NM_17817015152079
TMEM67NPHP11/Meckelin8NM_15370428282988
INPP5EJBTS1/inositol polyphosphate-5-phosphatase9NM_01989210101935
TMEM216JBTS2/transmembrane protein 21611AK30368755438
AHI1JBTS3/Jouberin6NM_00113483128263591
ARL13BJBTS8/ADP-ribosylation factor-like 2-like 13NM_18289611101287
CC2D2AJBTS9/coiled-coil and C2 domain containing 2A4NM_00108052237354863
TTC21BTetratricopeptide repeat domain 21B2NM_02475329293951
MKS1MKS1/Meckel syndrome type 117NM_01777718181680
XPNPEP3NPHPL1/X-prolyl aminopeptidase 322NM_02209810101524