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Table 2 Coverage of cystogenesis-related targeted gene panel

From: Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study

Target gene Previously reported disease Coverage
AHI1 Joubert syndrome 100%
ALG8 Polycystic liver disease 88.61%
ARL13B Joubert syndrome 98.72%
ATF6B ER candidate gene (polycystic liver) 100%
ATXN3 ER candidate gene (polycystic liver) 97.97%
AVP Polycystic kidney disease 100%
AVPR2 Polycystic kidney disease 100%
C5ORF42 Joubert syndrome 100%
CAPN2 ER candidate gene (polycystic liver) 99.1%
CC2D2A Joubert syndrome 98.13%
CEP120 Joubert syndrome 97.02%
CEP164 NPHP 100%
CEP290 NPHP/MKS 100%
COL4A1 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps 100%
COL4A3 Alport syndrome 99.29%
COL4A4 Alport syndrome 100%
COL4A5 Alport syndrome 100%
CSPP1 Joubert syndrome 97.3%
CYS1 Cilia-associated cystic genes 100%
DNAJB11 Atypical polycystic kidney disease 100%
DYNC2H1 Cilia-associated cystic genes 100%
EDEM3 ER candidate gene (polycystic liver) 100%
EYA1 Branchiootorenal dysplasia syndrome 100%
FAN1 Karyomegalic interstitial nephritis 100%
GANAB ADPKD 100%
GLIS2 NPHP 100%
GLIS3 Neonatal diabetes, hypothyroidism, and cystic kidney disease 100%
HNF1B Renal cysts and diabetes syndrome 100%
HSP90AA1 ER candidate gene (polycystic liver) 100%
HSPA6 ER candidate gene (polycystic liver) 100%
HYOU1 ER candidate gene (polycystic liver) 100%
IFT140 Cilia-associated cystic genes 100%
IFT172 Cilia-associated cystic genes 100%
IFT80 Cilia-associated cystic genes 99.58%
IFT88 Cilia-associated cystic genes, phenotype resembling ADPKD 98.7%
INPP5E Joubert syndrome 100%
INVS NPHP 100%
IQCB1 NPHP 100%
KIAA0586 Joubert syndrome 93.79%
LRP5 Polycystic liver disease 100%
MKS1 Joubert syndrome/MKS 100%
MUC1 ADTKD 100%
NEK1 Polycystic kidney disease 100%
NEK8 NPHP 100%
NGLY1 ER candidate gene (polycystic liver) 100%
NPHP3 NPHP 98.29%
NPHP4 NPHP 100%
OFD1 OFD 100%
PARK2 ER candidate gene (polycystic liver) 100%
PAX2 Optic nerve coloboma, renal hypoplasia 100%
PKD1 ADPKD 100%
PKD2 ADPKD 100%
PKHD1 ARPKD 100%
PMM2 Polycystic kidney disease with hyperinsulinemic hypoglycemia 100%
PRKCSH Polycystic liver disease 100%
REN Familial hyperproreninemia, high blood pressure 100%
RPGRIP1L Joubert syndrome/MKS 96.64%
SDCCAG8 NPHP 94.23%
SEC24B ER candidate gene (polycystic liver) 97.43%
SEC24C ER candidate gene (polycystic liver) 100%
SEC24D ER candidate gene (polycystic liver) 100%
SEC31A ER candidate gene (polycystic liver) 97.42%
SEC31B ER candidate gene (polycystic liver) 100%
SEC61A1 ER candidate gene (polycystic liver) 100%
SEC61A2 ER candidate gene (polycystic liver) 100%
SEC61B Polycystic liver disease 100%
SEC62 ER candidate gene (polycystic liver) 100%
SEC63 Polycystic liver disease 95.11%
TCTN2 Joubert syndrome 100%
TMEM216 Joubert syndrome 100%
TMEM67 NPHP/Joubert syndrome/MKS 94.94%
TSC1 Tuberous sclerosis complex 100%
TSC2 Tuberous sclerosis complex 100%
TTC21B NPHP 100%
TXNDC5 ER candidate gene (polycystic liver) 95.15%
UBE4B ER candidate gene (polycystic liver) 100%
UGGT1 ER candidate gene (polycystic liver) 100%
UGGT2 ER candidate gene (polycystic liver) 100%
UMOD ADTKD 100%
VHL Von Hippel–Lindau syndrome 100%
WDR19 NPHP 100%
WDR34 Cilia-associated cystic genes 100%
WDR35 Cilia-associated cystic genes 100%
WDR60 Cilia-associated cystic genes 100%
WFS1 ER candidate gene (polycystic liver) 100%
XBP1 Polycystic kidney and liver diseases 100%
  1. Abbreviations: ADPKD Autosomal dominant polycystic kidney disease, ADTKD Autosomal dominant tubulointerstitial kidney disease, ARPKD Autosomal recessive polycystic kidney disease, ER Endoplasmic reticulum, mks Meckel syndrome, NPHP Nephronophthisis, OFD Orofaciodigital syndrome