Table 1.
Genes implicated in genetic renal diseases and screened by targeted genomic enrichment and massively parallel sequencing
| Gene | Accession number | Locus/alternative name | Exon count |
|---|---|---|---|
| ACTN4 | NM_004924 | 21 | |
| AE1 | NM_000342 | SLC4A1 | 20 |
| AGTR2 | NM_000686 | 3 | |
| AGXT | NM_000030 | 11 | |
| AHI1 | NM_001134830 | JBTS3 | 27 |
| ALMS1 | NM_015120 | 23 | |
| APOL1 | NM_001136540 | FSGS4 | 6 |
| APRT | NM_000485 | 5 | |
| AQP2 | NM_000486 | 4 | |
| ARL13B | NM_001174150 | JBTS8 | 10 |
| ARL6 | NM_001278293 | BBS3 | 8 |
| ATP6V0A4 | NM_020632 | ATP6N1B | 22 |
| AVPR2 | NM_000054 | 3 | |
| BBS1 | NM_024649 | 17 | |
| BBS2 | NM_031885 | 17 | |
| BBS4 | NM_001252678 | 15 | |
| BBS5 | NM_152384 | 12 | |
| BBS7 | NM_018190 | 18 | |
| BMP4 | NM_001202 | 4 | |
| BSND | NM_057176 | 4 | |
| CaSR | NM_000388 | 7 | |
| CC2D2A | NM_001080522 | JBTS9 | 38 |
| CD2AP | NM_012120 | 18 | |
| CEP290 | NM_025114 | JBTS5, MKS4, NPHP6 | 54 |
| CLCN5 | NM_000084 | CLC5 | 12 |
| CLCNKA | NM_004070 | 20 | |
| CLCNKB | NM_000085 | 20 | |
| CLDN16 | NM_006580 | HOMG3 | 5 |
| CLDN19 | NM_001123395 | HOMG5 | 4 |
| CNNM2 | NM_017649 | HOMG6 | 8 |
| COL4A1 | NM_001845 | 52 | |
| COL4A3 | NM_000091 | 52 | |
| COL4A4 | NM_000092 | 48 | |
| COL4A5 | NM_000495 | 51 | |
| COQ2 | NM_015697 | 7 | |
| CREBBP | NM_001079846 | 30 | |
| CTNS | NM_001031681 | 13 | |
| CUL3 | NM_001257197 | 15 | |
| DHCR7 | NM_001163817 | 9 | |
| EGF | NM_001178130 | HOMG4 | 23 |
| EYA1 | NM_000503 | 18 | |
| FGF23 | NM_020638 | 3 | |
| FN1 | NM_002026 | 46 | |
| FRAS1 | NM_001166133 | 42 | |
| FREM2 | NM_207361 | 24 | |
| GATA3 | NM_001002295 | 6 | |
| GLA | NM_000169 | 7 | |
| GLI3 | NM_000168 | 15 | |
| GLIS2 | NM_032575 | NPHP7 | 6 |
| GPC3 | NM_001164617 | 9 | |
| GRHPR | NM_012203 | 9 | |
| HNF1B | NM_000458 | 9 | |
| HOGA1 | NM_138413 | DHDPSL | 7 |
| IFT80 | NM_001190241 | 21 | |
| INF2 | NM_001031714 | FSGS5 | 22 |
| INPP5E | NM_019892 | JBTS1 | 10 |
| INVS | NM_014425 | NPHP2 | 17 |
| IQCB1 | NM_001023570 | NPHP5 | 15 |
| KAL1 | NM_000216 | 14 | |
| KCNJ1 | NM_153766 | ROMK1 | 3 |
| KLHL3 | NM_001257194 | 15 | |
| LAMB2 | NM_002292 | 32 | |
| LMX1B | NM_001174146 | 8 | |
| MKKS | NM_170784 | BBS6 | 6 |
| MKS1 | NM_001165927 | 18 | |
| MYH9 | NM_002473 | 41 | |
| NEK8 | NM_178170 | NPHP9 | 15 |
| NLRP3 | NM_001079821 | 11 | |
| NPHP1 | NM_000272 | JBTS4 | 20 |
| NPHP3 | NM_153240 | 27 | |
| NPHP4 | NM_001291593 | 27 | |
| NPHS1 | NM_004646 | 29 | |
| NPHS2 | NM_001297575 | 7 | |
| NR3C2 | NM_000901 | 9 | |
| OCRL1 | NM_000276 | 24 | |
| OFD1 | NM_003611 | JBTS10 | 23 |
| PAX2 | NM_000278 | 10 | |
| PHEX | NM_000444 | 22 | |
| PKD1 | NM_000296 | ADPKD‐1 | 46 |
| PKD2 | NM_000297 | ADPKD‐2 | 15 |
| PKHD1 | NM_138694 | 67 | |
| PLCE1 | NM_001165979 | NPHS3 | 32 |
| REN | NM_00537 | 10 | |
| RET | NM_020630 | 19 | |
| RPGRIP1L | NM_001127897 | JBTS7, NPHP8, MKS5 | 25 |
| SALL1 | NM_001127892 | 3 | |
| SALL4 | NM_020436 | 4 | |
| SCNN1A | NM_001038 | 13 | |
| SCNN1B | NM_000336 | 13 | |
| SCNN1G | NM_001039 | 13 | |
| SIX1 | NM_005982 | 2 | |
| SIX2 | NM_016932 | 2 | |
| SIX5 | NM_175875 | 3 | |
| SLC12A1 | NM_000338 | NKCC2 | 27 |
| SLC12A3 | NM_000339 | NCCT | 26 |
| SLC26A4 | NM_000441 | 21 | |
| SLC34A1 | NM_001167579 | NPT2a | 9 |
| SLC34A3 | NM_001177316 | NPT2C | 13 |
| SLC3A1 | NM_000341 | 10 | |
| SLC4A4 | NM_001098484 | 26 | |
| SLC7A9 | NM_001126335 | 13 | |
| SMARCAL1 | NM_001127207 | 18 | |
| TCTN1 | NM_001082537 | JBTS13 | 15 |
| TMEM216 | NM_001173990 | JBTS2, MKS2 | 5 |
| TMEM237 | NM_001044385 | JBTS14 | 12 |
| TMEM67 | NM_001142301 | JBTS6, MKS3, NPHP11 | 29 |
| TRPC6 | NM_004621 | FSGS2 | 13 |
| TTC21B | NM_024753 | JBTS11 | 29 |
| TTC8 | NM_144596 | BBS8 | 15 |
| UMOD | NM_001008389 | 11 | |
| UPK3A | NM_001167574 | 4 | |
| WNK1 | NM_001184985 | 28 | |
| WNK4 | NM_032387 | 19 | |
| WNT4 | NM_030761 | 5 | |
| WT1 | NM_000378 | 9 |