Clinical Domain Working Groups

The goal of the Kidney Cystic and Ciliopathy Disorders GCEP is to classify the clinical validity of gene-disease relationships involving inherited cystic or tubulointerstitial diseases in the kidney, such as:

1. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).
2. Tubulointerstitial and fibrotic kidney diseases, such as autosomal dominant tubulointerstitial kidney diseases (ADTKD) and nephronophthisis (NPHP).
3. Cystic diseases majorly impacting the liver (autosomal dominant polycystic liver disease; ADPLD).
4. Syndromic disorders due to defects in the functioning of primary cilia (ciliopathies) that have cystic or NPHP kidney phenotypes. Examples include Joubert syndrome (JBTS), Meckel syndrome (MKS), and Bardet Biedl syndrome (BBS).

A list of 121 genes is provided below that was compiled from gene-disease pair lists provided by KidneySeq (Iowa), Gharavi lab (Columbia), PanelApp UK and PanelApp Australia, in addition to consultation with experts in the field.

ADAMTS9, AHI1, ALG8, ALG9, ANKS6, ARL13B, ARL6, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C8ORF37, CC2D2A, CCDC28B, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CILK1, CLDN10, COL4A1, CPLANE1, CSPP1, DCDC2, DDX59, DNAJB11, DYNC2H1, DZIP1L, EVC, EVC2, EXOC8, FAN1, GANAB, GLIS2, HNF1B, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT57, IFT74, IFT80, IFT81, INPP5E, INVS, IQCB1, JAG1, KATNIP, KIAA0586, KIAA0753, KIF14, KIF7, LZTFL1, LRP5, MAGI2, MAPKBP1, MKKS, MKS1, MUC1, NEK1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIBF1, PKD1, PKD2, PKHD1, POC1B, PRKCSH, REN, RPGRIP1L, SCLT1, SDCCAG8, SEC61A1, SEC61B, SEC63,SLC41A1, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TSC1, TSC2, TTC21B, TTC8, TXNDC15, UMOD, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZNF423