Ciliopathies
Associated medical conditions:
Primary ciliary dyskinesia
Polycystic kidney disease (PKHD1, PKD1, PKD2 single gene diagnostic)
Nephronophthisis
Senior-Loken Syndrome
Leber congenital amaurosis
Meckel-Gruber Syndrome
Joubert Syndrome
Bardet-Biedl Syndrome
Alstrom syndrome (single gene diagnostic)
McKusick-Kaufman syndrome (single gene diagnostic)
Ellis-van Creveld Syndrome
Short-rib-polydactyly syndrome (SRPS)
Heterotaxy
Primary Ciliopathy Panel (138 genes)
ACVR2B, ADGRV1, AGPAT2, AHI1, AIPL1, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C2orf71, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CENPF, CEP164, CEP290, CEP41, CEP55, CFTR, CLRN1, CRB1, CRELD1, CRX, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS2L2, GAS8, GDF1, GLIS2, GUCY2D, HYDIN, HYLS1, IFT43, IFT80, IMPDH1, INVS, IQCB1, KCNJ13, KIF7, LCA5, LEFTY2, LRAT, LRRC56, LRRC6, LZTFL1, MCIDAS, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PIH1D3, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SPAG1, SPATA7, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TSC1, TSC2, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, WHRN, XPNPEP3, ZIC3, ZMYND10, ZNF423
Nephronophthisis Panel (11 genes)
NPHP1, NPHP3, NPHP4, CEP290, GLIS2, INVS, IQCB1, RPGRIP1L, NEK8, SDCCAG8, TTC21B
Senior-Loken-Syndrom Panel (10 genes)
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1 und WDR19.
Lebersche kongenitale Amaurose Panel (22 genes)
AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1
Meckel-Gruber-Syndrom Panel (9 genes)
B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TMEM216, TMEM67
Joubert Syndrom Panel (32 genes)
AHI1, ARL13B, ARMC9, B9D1, C2CD3, C5ORF42, CC2D2A, CEP104, CEP120, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B und ZNF423.
Bardet- Biedl-Syndrom Panel (23 genes)
ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CCDC28B, CEP290, IFT172, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC8 und WDPCP
Ellis van Creveld-Syndrom Panel (2 genes)
EVC1, EVC2
Heterotaxie Panel (22 genes)
ACVR2B, CCDC39, CCDC40, CFC1 , CITED2, CRELD1 , DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, FOXH1, GDF1, INVS, LEFTY2, NKX2-5, NME8, NODAL, ZIC3
Ciliopathies (entire) Panel (513 genes)
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.
