Néphronophtise et apparentés

• AHI1,ALMS1, ANKS3, ANKS6, ARL13B, ARL6, B9D1, B9D2, BBIP1, BBS1,  BBS10, BBS12, BBS2, BBS4, BBS5, BBS7,  BBS9, C2CD3, C2orf71, C2orf71, C5orf42, CC2D2A, CEP164, CEP164, CEP19, CEP290, CEP41, CEP83(CCDC41), CSPP1, DCDC2, DDX59, DNAJB11, DYNC2H1, DZIP1L, EVC,  EVC2, EXOC4, FAN1,  GANAB, GLIS2, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43,  IFT80, IFT81,  INPP5E, INVS, IQCB1, HNF1B, KIAA0586, KIF14, KIF7, LZTFL1, MAPKBP1, MAP7D3, MKKS, MKS1, NEK1, NEK8, NPHP1, NPHP3,  NPHP4, OFD1, PDE6D, PKD2, POC1B,  RPGRIP1L, SCLT1, SDCCAG8, SLC41A1, TBC1D32, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR60, XPNPEP3, ZNF423

PARIS – HÔPITAL NECKER

•  NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423, CEP164, ANKS6, IFT172, CEP83, DCDC2, XPNPEP3                                                                                                                                                                                     

BRON – Hospice civil de Lyon