Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.
Molekulárně-genetická laboratoř
| Název | Laboratoře AGEL a. s. |
|---|---|
| Oddělení | Oddělení lékařské genetiky - laboratoř molekulární biologie |
| IČO | 16628373 |
| Adresa | Revoluční 2214/35 Nový Jičín 74101 |
| Telefon | 556 416 234, 556 416 232 |
| Fax | |
| Web | https://www.agellab.cz/ |
| spiros.tavandzis@lab.agel.cz | |
| Kontaktní osoba | Mgr. Spiros Tavandzis, Ing. Arpád Bóday |
| Akreditace ČIA | 8003 |
| Poznámky | |
| Poslední aktualizace: | 23. června 2020 |
| ID pro editaci: | MG59 |
Prováděná vyšetření
| Název | Gen | MIM | OrphaCode | EQA | REF |
|---|---|---|---|---|---|
| Defekt apoliproproteinu E | APOE | 107741 | |||
| Mgr. Uhliaríková | |||||
| Sy. Gilbert | UGT1A1 | 143500 | |||
| Ing. Bóday | |||||
| Onkogenéza BRCA1 | BRCA1 | 113705 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Glykoprotein IIIa (trombocytopenie) | GP3A | 173470 | |||
| Ing. Bóday | |||||
| Def. faktoru II, protrombinu, 20210G-A polymorfismus | F2 | 176930 | |||
| Ing. Bóday | |||||
| Def. faktoru XIII (koagulace, stabilita fibrinu) | F113A1 | 134570 | |||
| Ing. Bóday | |||||
| Thiopurin S-metyltransferáza | TPMT | 187680 | |||
| Mgr. Tavandzis | |||||
| Faktor 5 Leiden | G1691A | 188055 | |||
| Ing. Bóday | |||||
| Cytochrom P450, polypeptid 2C9 | CYP2C9 | 601130 | |||
| Mgr. Tavandzis | |||||
| Ankylosující spondylitida | HLA-B27 | 106300 | |||
| Ing. Bóday | |||||
| Beta-fibrinogen (FGB) | FGB | 134830 | |||
| Mgr. Uhliaríková | |||||
| Hemochromatóza | HFE | 235200 | |||
| Ing. Bóday | |||||
| Wilsonova choroba (WD) | ATP7B | 277900 | |||
| Mgr. Slavíková | |||||
| Beals syndrom | FBN2 | 612570 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
| Hluchota (nesyndromální) - DFNB1 | GJB2 | 220290 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
| Sy. Crigler-Najjar I | UGT1A1 | 218800 | |||
| Ing. Bóday | |||||
| Sy. Crigler-Najjar II | UGT1A1 | 606785 | |||
| Ing. Bóday | |||||
| Vitamín K epoxid reduktázový komplex, podjednotka 1 | VKORC1 | 608547 | |||
| Mgr. Tavandzis | |||||
| Dilatační kardiomyopatie | LMNA | 150330 | |||
| Mgr. Slavíková, Mgr. Crhová | |||||
| Mikrosatelitová instabilita, nádory GIT (karcinom kolorekta, žaludku) - markery D2S123, D5S346, D17S250, BAT25, BAT26, BAT40 | 900029 | ||||
| Ing. Bóday | |||||
| Hereditární nepolyposní karc. tl. střeva | MLH1 | 609310 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Familiární maligní melanom | CDKN2A | 600160 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Onkogenéza BRAF (melanom, kolorektální karcinom, papilární karcinom štítné žlázy) | BRAF | 164757 | |||
| Ing. Bóday | |||||
| Onkogenéza - NRAS | NRAS | 164790 | |||
| Ing. Bóday | |||||
| Onkogenéza K-RAS | KRAS2 | 190070 | |||
| Ing. Bóday | |||||
| Ectopia lentis AR | ADAMTSL4 | 225100 | |||
| Mgr. Slavíková, Ing. Mgr. Jašková | |||||
| Hereditární nádor prsu | CHEK2 | 604373 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Onkogenéza PIK3CA | PIK3CA | 171834 | |||
| Mgr. Havranová | |||||
| Onkogenéza BRCA2 | BRCA2 | 600185 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Familiární hypercholesterolemie typu B, Familiární defekt apolipoproteinu B-100 (FDB) | APOB | 144010 | |||
| Mgr. Uhliaríková | |||||
| Mnohočetná endokrinní neoplazie typ 1 | MEN1 | 131100 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Gastrointestinální stromální tumory (mut.c-kit) | KIT | 164920 | |||
| Mgr. Tavandzis | |||||
| Hypertrofické kardiomyopatie | 14q12, 1q32 | 160760 | |||
| Mgr. Slavíková, Mgr. Crhová | |||||
| Hereditární rakovina žaludku | CDH1 | 192090 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Sy Li-Fraumeni, LFS | TP53 | 191170 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Klonalita IgH | IGHV | 147070 | |||
| Mgr. Roszková, Mgr. Crhová | |||||
| Adenomatózní polypóza tl. střeva | APC | 175100 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Fam. hypercholesterolemie (FH) | LDLR | 143890 | |||
| Mgr. Uhliaríková | |||||
| Hereditární nepolyposní karcinom tlustého střeva (Sy.Lynch) | MSH6 | 600678 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Hereditární nepolyposní karc. tl. střeva, (Sy. Lynch ) | MSH2 | 120435 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Sy. Cowden, CD, Sz Bannayan-Riley-Ruvacalba, BRRS | PTEN | 158350 | |||
| Mgr. Roszková, Mgr. Tavandzis | |||||
| Hereditární pankreatitida | PRSS1, PRSS1, SPINK1, CFTR | 167800 | |||
| Mgr. Slavíková | |||||
| Faktor 5 Leiden | G1691A | 188055 | |||
| Ing. Bóday | |||||
| Sy. Marfan (MFS2) | TGFBR2 | 154705 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
| Celiakální sprue | CD | 212750 | |||
| Mgr. Uhliaríková, Ing. Bóday | |||||
| Onkogenéza (CML,ALL,AML)-BCR/ABL | BCR/ABL | 608232 | |||
| Mgr. Crhová | |||||
| Janusova kináza 2 , V617F mut.(Myeloproliferace s erytrocytózou) | JAK2 | 147796 | |||
| Mgr. Crhová | |||||
| Def. alfa-1-antitrypsinu | SERPINA1 | 107400 | |||
| Mgr. Uhliaríková | |||||
| Sy. Marfan, typ 2 (MFS2) | TGFBR1 | 190181 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
| Sy. Marfan (MFS1) | FBN1 | 154700 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
| Loeys-Dietz syndrome | TGRBR1 | 610380 | |||
| Mgr. Slavíková, Ing Mgr Jašková | |||||
NGS panely
| Ciliopatie ACVR2B, ARHGEF18, ARMC4, ATR, C21orf59, C2orf71, CAVIN4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCM2, CCNO, CELSR2, CEP290, CEP83, CFAP53, CFC1, CFC1B, CFTR, CLRN1, CRB1, CRELD1, CRX, DAW1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH3, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, EXOC3L2, FAM98C, FOXH1, FURIN, GATA6, GDF1, GJA1, GUCY2D, HYDIN, IFT122, IFT43, IMPDH1, IQCB1, KCNJ13, KIAA0556, KIF3B, LCA5, LEFTY2, LRAT, LRRC6, LRRCC1, MCIDAS, MEGF8, MMP21, MYO7A, NAT1, NEK1, NEK4, NKX2-5, NME8, NODAL, PCDH15, PCNT, PCSK5, PIH1D3, PKD1L1, PLK4, PLXND1, POC1A, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SHROOM3, TMEM127, TMEM256, TOPORS, TRAPPC3, TULP1, TXNDC15, USH1C, USH1G, USH2A, UTRN, VHL, WDR35, WDR72, WDR73, WHRN, ZIC3, ZMYND10 Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková |
| Familární hypercholesterolémie ABCG5, ABCG8, APOA5, APOB, APOC2, APOC3, APOE, ATP7B, CETP, CREB3L3, GJB2, GJB3, GJB6, LDLR, LDLRAP1, LPL, PCSK9 Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková |
| Hereditární nádorové syndromy (CZECANCA v1.1) ABRAXAS1, ABRAXAS2, AIP, ALK, APC, APEX1, ATM, ATMIN, ATR, ATRIP, AURKA, AXIN1, BABAM1, BABAM2, BAP1, BARD1, BLM, BMPR1A, BRAP, BRCA1, BRCA2, BRCC3, BRIP1, BUB1B, CASP8, CCND1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK1, CHEK2, CLSPN, CSNK1D, CSNK1E, CWF19L2, CYLD, DCLRE1C, DDB2, DHFR, DICER1, DIS3L2, DMBT1, DMC1, DNAJC21, DPYD, EGFR, EMSY, EPCAM, EPHX1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ESR1, ESR2, EXO1, EXT1, EXT2, EYA2, EZH2, FAAP24, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GADD45A, GATA2, GPC3, GRB7, HELQ, HNF1A, HOXB13, HRAS, HUS1, KAT5, KCNJ5, KIT, LIG1, LIG3, LIG4, LMO1, LRIG1, MAX, MCPH1, MDC1, MDM2, MDM4, MEN1, MET, MGMT, MLH1, MLH3, MMP8, MPL, MRE11, MSH2, MSH3, MSH5, MSH6, MSR1, MUS81, MUTYH, NAT1, NBN, NCAM1, NELFB, NF1, NF2, NFKBIZ, NHEJ1, NSD1, OGG1, PALB2, PARP1, PCNA, PHB, PHOX2B, PIK3CG, PLA2G2A, PMS1, PMS2, POLB, POLD1, POLE, PPM1D, PREX2, PRF1, PRKAR1A, PRKDC, PTCH1, PTEN, PTTG2, RAD1, RAD17, RAD18, RAD23B, RAD50, RAD51, RAD51AP1, RAD51B, RAD51C, RAD51D, RAD52, RAD54B, RAD54L, RAD9A, RB1, RBBP8, RECQL, RECQL4, RECQL5, RET, RFC1, RFC2, RFC4, RHBDF2, RNF146, RNF168, RNF8, RPA1, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SETBP1, SETX, SHPRH, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TCL1A, TELO2, TERF2, TERT, TLR2, TLR4, TMEM127, TOPBP1, TP53, TP53BP1, TSC1, TSC2, TSHR, UBE2A, UBE2B, UBE2I, UBE2V2, UBE4B, UIMC1, VHL, WRN, WT1, XPA, XPC, XRCC1, XRCC2, XRCC3, XRCC4, XRCC5, XRCC6, ZNF350, ZNF365 Kontaktní osoba: Mgr. Roszková, Mgr. Tavandzis |
| Kardiogenetika A2ML1, ABCA7, ABCC9, ABCC9, ABCC9, ACTC1, ACTN2, AKAP9, AKAP9, ALMS1, ALPK3, ANK2, ANK2, ANKRD1, APOA1, APOA1, APOA2, APOB, APOC2, APOC3, APOE, APOE, APP, APP, APP, B2M, BAG3, BRAF, BRAF, CACNA1C, CACNA1C, CACNA1C, CACNA1C, CACNA2D1, CACNB2, CACNB2, CACNB2, CACNB2, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, CRYAB, CSRP3, CST3, CST3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSC2, DSG2, DSP, DTNA, EMD, EPG5, EYA4, FGA, FGA, FGF12, FGF12, FHL1, FHL2, FHOD3, FKTN, FKTN, FLNC, GATA4, GATA4, GATA5, GATA6, GATAD1, GJA5, GJA5, GLA, GPD1L, GSN, GSN, GSN, GSN, GSN, HAND1, HCN4, HRAS, HRAS, ILK, JPH2, JUP, KAT6B, KAT6B, KCN1E, KCN1Q, KCN1Q, KCNA5, KCND2, KCND3, KCNE1, (KCNE1L), KCNE2, KCNE3, KCNE5, KCNH2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, KRAS, LAMA4, LAMA4, LAMP2, LAMP2, LAMP2, LAMP2, LDB3, LMNA, LMNA, LMNA, LMNA, LYZ, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MRAS, (MURC), MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, MYPN, NCOA6, NCOA6, NEBL, NEBL, NEXN, NKX2-5, NKX2-6, NOS1AP, NPPA, NRAS, NUP155, NUP155, OBSCN, OBSCN, OBSCN, PDLIM3, PDLIM3, PKP2, PLN, PPA2, PPA2, PRDM16, PRKAG2, PRKAG2, PRKAG2, PSEN1, PSEN1, PSEN2, PSEN2, PTPN11, RAF1, RAF1, RANGRF, RANGRF, RASA2, RBM20, RIT1, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN1B, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN5A, SDHA, SEMA3A, SGCD, SLMAP, SLMAP, SNTA1, SORL1, SOS1, SOS2, SYNE2, SYNE2, TAF1A, TAZ, TBX20, TCAP, TECRL, TGFB3, TMEM43, TMPO, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNNT2, TOMM40, TOMM40, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TPM1, TRDN, TRDN, TREM2, TRIM54, TRIM55, TRIM55, TRIM63, TRPM4, TTN, TTR, TXNRD2, TXNRD2, VCL Kontaktní osoba: Mgr. Slavíková, Mgr. Crhová |
| Nesyndromová hluchota ACTG1, ADCY1, ATP2B2, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, (COMT2), CRYM, DCDC2, (DFNA31), (DFNA48), (DFNA5), (DFNA51), (DFNA52), (DFNB31), (DFNB59), DIABLO, DIAPH1, DMXL2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, (FAM65B), GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PJVK, (PMCA2), PNPT1, POU4F3, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, (SMAC), STRC, SYNE4, TBC1D24, TECTA, (TFCP2L3), TJP2, TMC1, TMEM132E, (TMHS), TMIE, TMPRSS3, TNC, TPRN, (TRIC), TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN Kontaktní osoba: Mgr. Tavandzis, Ing. Mgr. Jašková |
| Onemocnění a vady očí ABCA1, ABCA4, ABCB6, ABHD12, ABHD5, ACBD5, ACO2, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADGRV1(GPR98, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH1A3, ALMS1, AP3B1, AP3D1, APC, ARHGEF18, ARL2BP, ARL6, ARR3, ASB10, ATF6, ATOH7, ATP1A2, B3GALNT2, B3GLCT, B3GNT1(B4GAT1), BBS1, BBS2, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C12orf57, C1QTNF5, C21orf2, C8orf37, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CCDC111(PRIMPOL), CDH23(USH1D), CDH3, CDHR1, CEP290, CEP78, CERKL, CFH, CFI, CHM, CHMP4B, CHN1, CHRDL1, CHST6, CIB2(USH1J, CISD2, CLN3, CLRN1(USH3A), CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL25A1, COL2A1, COL4A1, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPAMD8, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTC1, CTNNA1, CTNNB1, CTPP), CX3CR1, CYP1B1, CYP4V2, DAG1, DCN, DFNB31), DHDDS, DNM1L, DRAM2, DTNBP1, EDNRB, EFEMP1, ELOVL4, ELP4, EPHA2(ARCC2, EYA1, EYS, FAM126A, FAM161A, FBLN5, FBN1, FBN2, FKRP, FKTN, FLVCR1, FOXC1, FOXE3, FRMD7, FSCN2, FTL, FYCO1, FZD4, FZD5, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLIS3, GMPPB, GNAT1, GNAT2, GNB3, GPR143, GPR179, GRHL2, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY1A1, GUCY2D, GZF1, HARS(USH3B), HCCS, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HS6ST2, HSF4, HTRA1, IDH3B, IFT140, IFT172, IFT27, IFT43, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, ISPD, ITPR1, JAG1, KCNJ13, KCNV2, KERA, KIF11, KIP2), KITLG, KIZ, KLHL7, KRT12, KRT3, LARGE(LARGE1), LCA5(C6ORF152), LEMD2, LIM2, LMX1B, LOXL1, LRAT, LRIT3, LRMDA(C10orf11), LRP5, LRPAP1, LSS, LTBP2, LYST, MAB21L2, MAF, MAFB, MAK, MC1R, MERTK, MFRP, MIP(AQP0), MITF, MSTO1, MTPAP, MVK, MYO7A(USH1B), MYOC, NAA10, NDP, NDUFB11, NDUFS1, NEK2, NHS, NMNAT1, NOTCH2, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OPTN, OTX2, OVOL2, P3H2(LEPREL1), P4HA2, PAX2, PAX3, PAX6, PCARE(C2orf71), PCDH15(USH1F), PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX26, PEX7, PHYH, PIK3R1, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLK4, PMM2, POC1B, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PRCD, PRDM13, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2(RDS), PRPS1, PRSS56, PXDN, RAB18, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2(RAXL1), RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO(OPN2), RIMS1, RLBP1(CRALBP), ROM1, RP1, RP1L1, RP2, RP9(PAP1), RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SALL2, SALL4, SCAPER, SCO2, SDCCAG8, SEMA4A, SH3PXD2B, SHH, SIPA1L3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A4, SLC38A8, SLC39A5, SLC45A2(MATP), SLC4A11, SLC7A14, SLITRK6, SMOC1, SNAI2, SNRNP200, SNX3(MCOPS8), SOX1, SOX10, SOX2, SPATA7, SRD5A3, STRA6, TACSTD2, TBC1D20, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMP3, TINF2, TMEM126A, TMEM5(RXYLT1), TMEM98, TOPORS, TRIM44, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBIAD1, UNC119, UNC45B, USH1C(PDZ73), USH1G(SANS), USH2A, USH2B), VAX1, VCAN, VIM, VSX1, VSX2(CHX10), WDR36, WFS1, WHRN(USH2D, WT1, XYLT2, YAP1, YME1L1, ZEB1, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644 Kontaktní osoba: Mgr. Staňková, Mgr. Gazdová |
| Onemocnění ledvin ABCA3, ABCB11, ABCB4, ABCC6, ABCC9, ACE, ACTN4, ACVRL1, ADAMTS13, ADD3, AGT, AGTR1, AGTR2, AGXT, AHI1, ALMS1, ANKS6, ANLN, ANOS1/KAL1, APOL1, AQP2, AR, ARHGAP24, ARHGDIA, ARL13B, ARL6, ARMC9, ATP1A2, ATP6AP2, ATP6V0A4, ATP6V1B1, ATP7B, ATP8B1, AVPR2, B9D1/JBTS27/B9/MKS9, B9D2, BAG6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMP7, BMPR1B, BMPR2, BOLA3, BRAF, BSND, C3, C5orf42, c8orf37, C9orf72, CA2, CACNA1A, CASR, CAT, CAV1, CBLN2, CC2D2A, CCDC28B, CD2AP, CD46/MCP, CDC5L, CDC73, CENPF, CEP104, CEP120, CEP164, CEP290/NPHP6, CEP41, CEP83, CFB, CFH, CFHR1, CFHR3, CFHR5, CFI, CHD1L, CHRM3, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ8B, CRB2, CSPP1, CTC1, CTNNBIP1, CTNS, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP3A5, DACT1, DCDC2, DGKE, DMP1, DSTYK, DZIP1L, EGF, EHHADH, EIF2AK4, ELMOD2, EMP2, EMX2, ENG, ENPP1, EYA1, FAM111A, FGF20, FGF23, FGF8, FGF9, FN1, FOXC1, FOXE1, FRAS1, FREM1, FREM2, FXYD2, G6PC, GALNT3, GANAB, GATA3, GBE1, GDNF, GLIS2/NPHP7, GLIS3, GNB3, GOSR2, GREB1L, GREM1, GRHPR, GRIP1, HNF1B, HNF4A, HSD11B2, HTRA1, HYLS1, IFT140, IFT172, IFT27, IFT74/CCDC2, IFT80, ILK, INF2/C14ORF173, INPP5E, INVS/NPHP2, IQCB1/NPHP5, ITGA8, KCNA1, KCNA5, KCNJ1, KCNJ10, KCNJ5, KCNK3, KIAA0556/KATNIP, KIAA0586, KIAA0753, /KIAA1772/C18ORF6, KIF14, KIF7, KL, KLHL3, KRIT1, LAMB2, LIN7C, LRP4, LZTFL1/BBS17, MAGED2, MAPKBP1, MEN1, MEX3C, MKKS, MKS1, MUC1, MUC5B, MYH9, MYO1E, MYOG, NCF1, NEK8/NPHP9, NFU1, NKX2-1, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NUP107, NUP205, NUP93, OCRL, OFD1, PAX2, PAX8, PCBD1, PDCD10, PDE2A, PDE3A, PDE6D, PHEX, PIBF1, PKD1, PKD2, PKHD1, PLCE1, PNPLA6, PNPLA6, PRKCSH, PTPRO, REN, RET, ROBO2, RPGRIP1L/NPHP8, SALL1, SCARB2, SCN1A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC63, SFTPA1, SFTPB, SFTPC, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC26A4, SLC34A1, SLC34A3, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMAD4, SMAD9, SMARCAL1, SPRY2, TAC3, TBX18, TCTN1/TECT1, TCTN2, TCTN3, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TRPC6, TRPM6, TRPM8, TSC2, TSHR, TTC21B, TTC8, TTF1, ULK4, UMOD, UPK3A, USF2, WDPCP/C2ORF86, WDR19, WDR34, WDR60, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, ZNF423 Kontaktní osoba: Ing. Bóday, Mgr. Uhliaríková |
| Onemocnění pojivových tkání ACE, ACTA2, ADAMTS10, ADAMTS2, ADAMTSL4, ALDH18A1, APC2, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATP7B, B3GALT6, B4GALT7, BMP1, C1R, C1S, CARD14, CBS, CETP, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CREB3L1, CRTAP, DSE, EDNRA, EFEMP2(FBLN4), ELN, ENG, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLNA, GATA5, GJB2, GJB3, GJB6, GORAB, GUCY1A1(GUCY1A3), IFITM5, LEPRE1(P3H1), LOX, LOXL2, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MMP2, MYH11, MYLK, NFIX, NOD2, NOTCH1, NSD1, P4HA1, PCSK9, PKD1, PKD2, PLOD1, PLOD2, PLS3, PPIB, PRDM5, PRKG1, PYCR1, RIN2, RNF213, SERPINF1, SERPINH1, SETD2, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SP7, SPARC, STAT1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TMEM38B, TNF, TNFRSF13B, TNXB, WNT1, ZNF469 Kontaktní osoba: Mgr. Slavíková, Mgr. Jašková |
| Vzácná onemocnění ACD, ACVR1, ACVRL1, ADAMTSL4, AFF4, AGGF1, AKT1, AKT2, AKT3, ALMS1, ALX4, ANK1, ANKRD11, ANOS1, ANTXR2, APC2, ARHGAP31, ARID1A, ARID1B, ARID2, ARNT2, ARX, ASCL1, ASXL1, ASXL3, ATP7B, ATR, ATRIP, B3GALT6, BMP2, BMPR1B, BMS1, BRAF, BRD4, BTRC, CASR, CCDC141, CCND2, CD96, CDH23(USH1D), CDH3, CDKL5, CDKN1C, CENPE, CENPJ, CEP120, CEP152, CEP63, CFTR, CHD7, CIB2(USH1J, CLRN1(USH3A), CNTNAP2, COL11A1, COL11A2, COL17A1, COL2A1, COL7A1, COL9A1, COL9A2, COMP, CREBBP, CSPP1, CTC1, CTRC, CYP17A1, DCX, DEAF1, DFNB31), DFNB31), DHCR24, DHCR7, DIS3L2, DKC1, DLL4, DLX5, DLX6, DNA2, DNM2, DNMT3A, DOCK6, DOK7, DUSP6, DYNC2H1, DYNC2LI1, ECE1, ECEL1, EDN3, EDNRB, EED, EFNB1, ENG, EOGT, EP300, EPB42, EPS15L1, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, EZH2, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGF16, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLII, FLNB, FLRT3, FOXG1, FREM1, FSHB, GABBR2, GATA1, GDF2, GDF3, GDF5, GDF6, GDNF, GJA1, GLI1, GLI2, GLI3, GNAS, GNRH1, GNRHR, GPC3, GPC4, GPR98(ADGRV1, H19, HARS(USH3B), HDAC8, HESX1, HOXD13, HRAS, HS6ST1, HSD3B2, IDH1, IDH2, IFNG, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGF1, IGF2, IHH, IKBKG, IL17RD, IQCE, IQSEC2, ITGA6, ITGB4, JAG1, KAT6B, KCNQ1, KCNQ1OT1, KCTD1, KDM6A, KIAA0586, KIF2A, KIF5C, KIP2), KISS1, KISS1R, KITLG, KLHL7, KMT2A, KMT2D, KRAS, KRT14, KRT5, LAMA3, LAMB3, LAMC2, LHB, LHX3, LHX4, LIG4, LMBR1, LMX1B, LZTR1, MAP2K1, MAP2K2, MAU2, MBD5, MCPH1, MECP2, MEFV, MEGF8, MEOX1, MID1, MITF, MSX2, MTOR, MUSK, MVK, MYBPC1, MYH3, MYH8, MYO18B, MYO7A(USH1B), MYOD1, NALCN, NBN, NEK1, NEK9, NF1, NF2, NFIX, NHP2, NIN, NIPBL, NOG, NOP10, NOTCH1, NOTCH2, NR0B1, NRAS, NRTN, NRXN1, NSD1, NSMCE2, NSMF, NSUN2, NTNG1, OFD1, OTX2, PAFAH1B1, PAH, PARN, PAX3, PCDH15(USH1F), PCNT, PDGFRB, PDZD7, PHOX2B, PIEZO2, PIGA, PIGN, PIK3CA, PIK3R2, PLK4, POLR1C, POLR1D, POR, POU1F1, PPP1CB, PRF1, PRKAR1A, PROK2, PROKR2, PROP1, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RAB23, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RASA1, RBBP8, RBM8A, RBPJ, RECQL4, RELN, RET, RIT1, RNF135, ROR2, RPL11, RPL15, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, SALL4, SBDS, SC5D, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SETD2, SETD5, SHH, SHOC2, SHOX, SIX1, SIX5, SLC26A2, SLC4A1, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAI2, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SPECC1L, SPINK1, SPRED1, SPRY4, SPTA1, SPTB, SRCAP, SUFU, TAC3, TACR3, TBX1, TBX5, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TERC, TERT, TFAP2A, TGFB2, TGFB3, TGFBR1, TGFBR2, TINF2, TNNI2, TNNT3, TP63, TPM2, TRAIP, TRIP11, TSR2, TTC21B, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TWIST1, TYR, UBE3A, UGT1A1, USB1, USH1C(PDZ73), USH1G(SANS), USH2A, USH2B), VPS13B, WAPL, WDR11, WDR19, WDR34, WDR35, WDR60, WHRN(USH2D, WHRN(USH2D, WNT10B, WNT7A, WRAP53, YWHAE, ZEB2, ZIC1, ZNF141 Kontaktní osoba: Mgr. Havranová, Mgr. Tavandzis |
Upozornění: Za správnost údajů odpovídá pracoviště, které je do databáze nahlásilo.