Zugehörige Erkrankungen:
Zystische Nierenerkrankungen
Autosomal Rezessive Polyzystische Nierenerkrankung (ARPKD)
Nierenzysten und Diabetes Syndrom (RCAD)
Nephrokalzinose
Nephronophthise
Ciliopathien/Ziliopathien
Gen-Panel (615 Gene)
ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ADAMTS13, ADAMTS9, ADCK4≙COQ8B, ADCY10, ADCY3, ADGRV1≙GPR98, AGK, AGPAT2, AGT, AGTR1, AGXT, AHI1, AIPL1, ALDH1A2, ALG1, ALG8, ALG9, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA2, APOC2, APOC3, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATP7B, ATXN10, AVP, AVPR2, B2M, B9D1, B9D2, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BNC2, BRCA2, BSND, C11ORF70, C1QA, C1QB, C1QC, C21ORF2, C21ORF59, C2CD3, C2ORF71, C3, C5ORF42, C8ORF37, CA2, CABP4, CACNA1H, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CD151, CD2AP, CD46, CDC5L, CDC73, CDH23, CDKN1C, CDKN2B, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP43, CFAP44, CFAP46, CFAP53, CFAP54, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CHRNA3, CIB2, CITED2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CLPB, CLRN1, CLU, CNNM2, CNNM4, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COX10, CRB1, CRB2, CRELD1, CRX, CSPP1, CST3, CTNS, CTU2, CUBN, CUL3, CUL4B, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP27B1, CYP2R1, DAAM2, DACH1, DACT1, DCDC2, DDX59, DFNB31, DGKE, DHCR7, DHFR, DICER1, DIS3L2, DLC1, DLG3, DLG5, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DNHD1, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DYRK1B, DYX1C1, DZIP1L, E2F3, EGF, EHHADH, EMP2, ENPP1, EPCAM, ETFA, EVC, EVC2, EXOC3L2, EXOC8, EYA1, FAH, FAM111A, FAM20A, FAN1, FANCB, FAT1, FBXW7, FGA, FGF20, FGF23, FH, FIBP, FLCN, FN1, FOXC1, FOXC2, FOXH1, FOXI1, FRAS1, FREM1, FREM2, FXYD2, GANAB, GAS2L2, GAS8, GATA2, GATA3, GATM, GDF1, GDF6, GDNF, GIF, GLA, GLI2, GLI3, GLIS2, GNA11, GNAS, GON7, GPC3, GPHN, GREB1L, GREM1, GRHPR, GRIP1, GSN, GUCY2D, HAAO, HCN3, DNAAF5≙HEATR2, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPSE2, HS2ST1, HSD11B2, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT20, IFT22, IFT27, IFT43, IFT46, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IMPDH1, INF2, INPP5E, INSR, INVS, IQCB1, ITGA3, ITGA8, ITGB4, ITSN1, JAG1, KANK1, KANK2, KANK4, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KIRREL1, KIT, KL, KLHL3, KMT2D, KSR2, KYNU, LAGE3, LAMA5, LAMB2, LBR, LCA5, LCAT, LEFTY2, LEP, LEPR, LIFR, LMNA, LMOD1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LRRC56, LRRC6, LYZ, LZTFL1, MAFB, MAGED2, MAGEL2, MAGI2, MAGT1, MAPKBP1, MC3R, MC4R, MCIDAS, MET, MITF, MKKS, MKS1, MLH1, MMACHC, MMADHC, MOCOS, MOCS1, MOCS2, MSH2, MSH6, MTR, MTRR, MTX2, MUC1, MUT, MYH11, MYH9, MYL9, MYLK, MYO1E, MYO7A, MYOCD, NADSYN1, NEK1, NEK8, NFKB1, NFKB2, NIPA2, NIPBL, NKX2-5, NLRP3, NME8, NMNAT1, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B2, NR3C1, NR3C2, NTRK2, NUP107, NUP133, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, ORMDL3, OSGEP, OSR1, OTX2, PAX2, PBX1, PCBD1, PCDH15, PCSK1, PDE6D, PDIA6, PDPR, PDSS2, PDZD7, PHEX, PHF6, PIBF1, PIGA, PIH1D3, PIK3CD, PIK3R1, PKD1, PKD2, PKHD1, PLCE1, PLG, PLVAP, PMM2, PMS2, PNPLA6, POC1A, POC1B, PODXL, POMC, POU6F2, PPARG, PRKCSH, PRPH2, PRPS1, PTEN, PTPRO, PUF60, PXDN, RAG1, RAG2, RD3, RDH12, REN, REST, RET, ROBO2, ROM1, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SARS2, SBDS, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHB, SDHC, SDHD, SEC61A1, SEC63, SGPL1, SHH, SIM1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC19A2, SLC19A3, SLC1A1, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A2, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SMARCB1, SOX17, SPAG1, SPAG17, SPATA7, SPRY1, SRGAP1, STK36, STRA6, STRADA, SUFU, SYNPO, TAPT1, TBC1D1, TBC1D32, TBC1D8B, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TNS2, TNS3, TNXB, TOPORS, TP53, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRIM8, TRPC6, TRPM6, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC25, TTC8, TTR, TULP1, TXNDC15, UCP3, UMOD, UPF3B, UPK2, UPK3A, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WBP11, WDPCP, WDR19, WDR34, WDR35, WDR4, WDR60, WDR63, WDR72, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, YRDC, ZIC3, ZMPSTE24, ZMYM2, ZMYND10, ZNF365, ZNF423 und ZSWIM6.
Nierenerkrankungen und Ciliopathien Gen-Panel (513 Gene)
ACE, ACTA2, ACTG2, ACTN4, ACVR2B, ADAMTS13, COQ8B, ADCY10, ADCY3, ADGRV1, AGK, AGPAT2, AGT, AGTR1, AGXT, AHI1, AIPL1, ALDH1A2, ALG1, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC4, ARMC9, ATP6V0A4, ATP6V1B1, ATXN10, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4, BMP7, BNC2, BSND, C11ORF70, C1QA, C1QB, C1QC, C21ORF2, C21ORF59, C2CD3, C2ORF71, C3, C5ORF42, C8ORF37, CA2, CABP4, CASR, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CD151, CD2AP, CD46, CDC5L, CDH23, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP43, CFAP44, CFAP46, CFAP53, CFAP54, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHD7, CHRM3, CIB2, CITED2, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CLRN1, CLU, CNNM2, CNNM4, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COX10, CRB1, CRB2, CRELD1, CRX, CSPP1, CTNS, CUBN, CUL3, CUL4B, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DACH1, DACT1, DCDC2, DDX59, WHRN, DGKE, DHCR7, DHFR, DLG3, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DNHD1, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DYRK1B, DNAAF4, DZIP1L, E2F3, EGF, EMP2, ENPP1, ETFA, EVC, EVC2, EXOC3L2, EXOC8, EYA1, FAH, FAM111A, FAM20A, FAM58A, FAN1, FANCB, FAT1, FBXW7, FGF20, FGF23, FIBP, FN1, FOXC1, FOXC2, FOXH1, FRAS1, FREM1, FREM2, FXYD2, GANAB, GAS2L2, GAS8, GATA3, GDF1, GDF6, GDNF, GIF, GLA, GLI2, GLI3, GLIS2, GNA11, GNAS, GPHN, GREM1, GRHPR, GRIP1, GUCY2D, HAAO, HCN3, DNAAF5, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, HYDIN, HYLS1, ICK, IFT122, IFT140, IFT172, IFT20, IFT22, IFT27, IFT43, IFT46, IFT52, IFT57, IFT74, IFT80, IFT81, IFT88, IMPDH1, INF2, INPP5E, INSR, INVS, IQCB1, ITGA3, ITGA8, ITGB4, JAG1, KANK1, KANK2, KANK4, KCNA1, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, KIT, KL, KLHL3, KSR2, KYNU, LAMA5, LAMB2, LBR, LCA5, LEFTY2, LEP, LEPR, LMNA, LMX1B, LRAT, LRIG2, LRP5, LRRC56, LRRC6, LZTFL1, MAFB, MAGED2, MAGEL2, MAGI2, MAGT1, MAPKBP1, MC3R, MC4R, MCIDAS, MKKS, MKS1, MMACHC, MMADHC, MOCOS, MOCS1, MTR, MTRR, MUC1, MUT, MYH11, MYH9, MYO1E, MYO7A, NEK1, NEK8, NFKB1, NFKB2, NIPA2, NKX2-5, NME8, NMNAT1, NODAL, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B2, NR3C2, NTRK2, NUP107, NUP205, NUP93, NXF5, OCRL, OFD1, ORMDL3, OSR1, OTX2, PAX2, PBX1, PCBD1, PCDH15, PCSK1, PDE6D, PDPR, PDSS2, PDZD7, PHEX, PHF6, PIBF1, PIGA, PIH1D3, PIK3CD, PIK3R1, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, PNPLA6, POC1A, POC1B, POMC, PPARG, PRKCSH, PRPH2, PTPRO, PXDN, RAG1, RAG2, RD3, RDH12, REN, RET, ROBO2, ROM1, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SARS2, SBDS, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SHH, SIM1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC19A2, SLC19A3, SLC1A1, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SLC9A3, SLC9A3R1, SLIT2, SMARCA4, SMARCAL1, SOX17, SPAG1, SPAG17, SPATA7, SPRY1, SRGAP1, STK36, STRADA, SUFU, SYNPO, TAPT1, TBC1D1, TBC1D32, TBX18, TCTEX1D2, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS3, TNXB, TOPORS, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TSHZ3, TTBK2, TTC21B, TTC25, TTC8, TULP1, TXNDC15, UCP3, UMOD, UPF3B, UPK2, UPK3A, USH1C, USH1G, USH2A, USP9X, VDR, VHL, VIPAS39, VPS13B, VPS33B, WDPCP, WDR19, WDR34, WDR35, WDR60, WDR63, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, ZIC3, ZMPSTE24, ZMYND10, ZNF365, ZNF423, ZSWIM6.
