Table 2 Coverage of cystogenesis-related targeted gene panel
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% |