Belgian Genetic Tests database- Diseases
- Renal tubular dysgenesis of genetic origin
Renal tubular dysgenesis of genetic origin
| Name: |
Renal tubular dysgenesis of genetic origin
|
| ORPHAcode: |
97369
|
| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
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Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 100.00 1 NM_000789.4 ACTG2 100.00 1 NM_001615.4 AGT 100.00 1 NM_001384479.1 AGTR1 100.00 1 NM_000685.5 ANOS1 100.00 1 NM_000216.4 BMP4 100.00 1 NM_001202.6 BMP7 100.00 1 NM_001719.3 CDC5L 100.00 1 NM_001253.4 CHD1L 100.00 1 NM_004284.6 CHD7 100.00 1 NM_017780.4 DSTYK 100.00 1 NM_015375.3 EYA1 100.00 1 NM_000503.6 FGF20 100.00 1 NM_019851.3 FRAS1 100.00 1 NM_025074.7 FREM1 100.00 1 NM_001379081.2 FREM2 100.00 1 NM_207361.6 GATA3 100.00 1 NM_001002295.2 GLI3 100.00 1 NM_000168.6 GREB1L 100.00 1 NM_001142966.3 GRIP1 100.00 1 NM_001366722.1 HNF1B 100.00 1 NM_000458.4 ITGA8 100.00 1 NM_003638.3 NOTCH2 99.00 1 NM_024408.4 NPHP3 100.00 1 NM_153240.5 PAX2 100.00 1 NM_000278.5 PBX1 100.00 1 NM_002585.4 REN 100.00 1 NM_000537.4 RET 100.00 1 NM_020975.6 ROBO2 100.00 1 NM_001395656.1 RPGRIP1L 96.00 1 NM_015272.5 SALL1 100.00 1 NM_002968.3 SALL4 100.00 1 NM_020436.5 SIX1 100.00 1 NM_005982.4 SIX2 100.00 1 NM_016932.5 SIX5 100.00 1 NM_175875.5 SOX17 100.00 1 NM_022454.4 TBX18 100.00 1 NM_001080508.3 UMOD 100.00 1 NM_003361.4 UPK3A 100.00 1 NM_006953.4 WNT4 100.00 1 NM_030761.5 AGTR2 100.00 1 NM_000686.5 AGXT 100.00 1 NM_000030.3 BNC2 100.00 1 NM_017637.6 CCNQ 100.00 1 NM_152274.5 CEP55 100.00 1 NM_018131.5 CHRM3 100.00 1 NM_001375978.1 CHRNA3 100.00 1 NM_000743.5 CTU2 100.00 1 NM_001012759.3 FOXC1 100.00 1 NM_001453.3 GPC3 100.00 1 NM_004484.4 HOXA13 100.00 1 NM_000522.5 HPSE2 100.00 1 NM_021828.5 JAG1 100.00 1 NM_000214.3 KIF14 100.00 1 NM_014875.3 LIFR 100.00 1 NM_001127671.2 LRIG2 100.00 1 NM_014813.3 LRP4 100.00 1 NM_002334.4 NADSYN1 100.00 1 NM_018161.5 ROBO1 100.00 1 NM_002941.4 SDCCAG8 100.00 1 NM_006642.5 SLIT2 100.00 1 NM_004787.4 STRA6 100.00 1 NM_022369.4 TBC1D1 100.00 1 NM_001396959.1 TFAP2A 100.00 1 NM_001372066.1 TMEM260 100.00 1 NM_017799.4 TRAP1 100.00 1 NM_016292.3 WFS1 100.00 1 NM_006005.3 ZIC3 100.00 1 NM_003413.4 ZMYM2 100.00 1 NM_197968.4 -
Tubulopathy/Nephrolithiasis (106 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY10 100.00 1 NM_018417.6 AGXT 100.00 1 NM_000030.3 ALDOB 100.00 1 NM_000035.4 ALPL 100.00 1 NM_000478.6 AP2S1 100.00 1 NM_004069.6 AQP2 100.00 1 NM_000486.6 ATP6V0A4 100.00 1 NM_020632.3 ATP6V1B1 100.00 1 NM_001692.4 ATP7B 100.00 1 NM_000053.4 AVPR2 100.00 1 NM_000054.7 BSND 100.00 1 NM_057176.3 CASR 100.00 1 NM_000388.4 CLCN5 100.00 1 NM_001127898.4 CLCNKB 100.00 1 NM_000085.5 CLDN10 100.00 1 NM_006984.5 CLDN16 100.00 1 NM_006580.4 CLDN19 100.00 1 NM_148960.3 CNNM2 100.00 1 NM_017649.5 CTNS 100.00 1 NM_004937.3 CUL3 100.00 1 NM_003590.5 CYP24A1 100.00 1 NM_000782.5 EGF 100.00 1 NM_001963.6 EGFR 100.00 1 NM_005228.5 EHHADH 100.00 1 NM_001966.4 FAH 100.00 1 NM_000137.4 FAN1 100.00 1 NM_014967.5 FGF23 100.00 1 NM_020638.3 FXYD2 100.00 1 NM_001680.5 G6PC1 100.00 1 NM_000151.4 GALT 100.00 1 NM_000155.4 GATM 100.00 1 NM_001482.3 GNA11 100.00 1 NM_002067.5 GRHPR 100.00 1 NM_012203.2 HNF1B 100.00 1 NM_000458.4 HOGA1 100.00 1 NM_138413.4 HSD11B2 100.00 1 NM_000196.4 KCNJ1 100.00 1 NM_153766.3 KCNJ10 100.00 1 NM_002241.5 KLHL3 100.00 1 NM_017415.3 MAGED2 100.00 1 NM_177433.3 NR3C2 100.00 1 NM_000901.5 OCRL 100.00 1 NM_000276.4 PCBD1 100.00 1 NM_000281.4 PHEX 100.00 1 NM_000444.6 REN 100.00 1 NM_000537.4 SCNN1A 100.00 1 NM_001038.6 SCNN1B 100.00 1 NM_000336.3 SCNN1G 100.00 1 NM_001039.4 SEC61A1 100.00 1 NM_013336.4 SLC12A1 100.00 1 NM_000338.3 SLC12A3 100.00 1 NM_001126108.2 SLC2A2 100.00 1 NM_000340.2 SLC34A1 100.00 1 NM_003052.5 SLC34A3 100.00 1 NM_001177316.2 SLC3A1 100.00 1 NM_000341.4 SLC4A1 100.00 1 NM_000342.4 SLC4A4 100.00 1 NM_001098484.3 SLC5A2 100.00 1 NM_003041.4 SLC7A9 100.00 1 NM_014270.5 NHERF1 100.00 1 NM_004252.5 TRPM6 100.00 1 NM_017662.5 UMOD 100.00 1 NM_003361.4 VDR 100.00 1 NM_000376.3 VIPAS39 100.00 1 NM_001193315.2 VPS33B 100.00 1 NM_018668.5 WNK1 100.00 1 NM_018979.4 WNK4 100.00 1 NM_032387.5 AGTR1 100.00 1 NM_000685.5 APRT 100.00 1 NM_000485.3 CA2 100.00 1 NM_000067.3 CACNA1H 100.00 1 NM_021098.3 CLCN2 100.00 1 NM_004366.6 CLCNKA 100.00 1 NM_004070.4 CYP11B1 100.00 1 NM_000497.4 CYP17A1 100.00 1 NM_000102.4 DMP1 100.00 1 NM_004407.4 ENPP1 100.00 1 NM_006208.3 FANCA 100.00 1 no FAM20A 100.00 1 NM_017565.4 FOXI1 100.00 1 NM_012188.5 HNF1A 100.00 1 NM_000545.8 HNF4A 100.00 1 NM_175914.5 HPRT1 100.00 1 NM_000194.3 KCNJ16 100.00 1 NM_170741.4 KCNJ5 100.00 1 NM_000890.5 KL 100.00 1 NM_004795.4 LAGE3 100.00 1 NM_006014.5 LDHD 100.00 1 NM_194436.3 LRP2 100.00 1 NM_004525.3 MEN1 100.00 1 NM_001370259.2 MOCOS 100.00 1 NM_017947.4 PRPS1 100.00 1 NM_002764.4 SLC16A12 100.00 1 NM_213606.4 SLC22A12 100.00 1 NM_144585.4 SLC2A9 100.00 1 NM_020041.3 SLC36A2 100.00 1 NM_181776.3 SLC5A1 100.00 1 NM_000343.4 SLC6A19 100.00 1 NM_001003841.3 SLC6A20 100.00 1 NM_020208.4 WDR72 100.00 1 NM_182758.4 WFS1 100.00 1 NM_006005.3 XDH 100.00 1 NM_000379.4 AGT 100.00 1 NM_001384479.1 CDC73 100.00 1 NM_024529.5 RRAGD 100.00 1 NM_021244.5 SLC26A1 100.00 1 NM_022042.4 SLC41A1 100.00 1 NM_173854.6