Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.

1. Databáze pracovišť
2. Molekulárně-genetické laboratoře
3. Cytogenetická laboratoř Brno, s.r.o.

Molekulárně-genetická laboratoř

Název	Cytogenetická laboratoř Brno, s.r.o.
Oddělení	molekulární genetika
IČO	26222825
Adresa	Veveří 39 Brno 60200
Telefon	545 247 489
Fax	545 240 424
Web	http://www.cytogenetika.cz/
E-mail	cytogenetika@cytogenetika.cz
Kontaktní osoba	RNDr. Jitka Kadlecová, Ph.D.
Akreditace ČIA	8067
Poznámky
Poslední aktualizace:	17. června 2025
ID pro editaci:	MG80

Prováděná vyšetření

Název	Gen	MIM	OrphaCode	EQA	REF
Homocystinurie z deficitu methylentetrahydrofolátreduktázy	MTHFR	607093
Ing. Zuzana Dobšáková, Ph.D., Mgr. Diana Nikulenkov Grochová, Ph.D.		C677T
Aneuploidie chromozomů 13,18, 21, X a Y metodou QF PCR	QF PCR	900013
Ing. Zuzana Dobšáková, Ph.D., Mgr. Diana Nikulenkov Grochová, Ph.D.
Def. faktoru II, protrombinu, 20210G-A polymorfismus	F2	176930
Ing. Zuzana Dobšáková, Ph.D., Mgr. Diana Nikulenkov Grochová, Ph.D.
Cystická fibróza	CFTR	219700
Mgr. Markéta Hiemerová, Mgr. Diana Nikulenkov Grochová, Ph.D
Spinální muskulární atrofie typ I	SMN1	253300
Mgr. Markéta Hiemerová				exony 7 a 8
Sy. DiGeorge/CATCH22/	DGS	188400
Mgr. Markéta Hiemerová
Def. faktoru V	APC, F5, G169A	227400
Ing. Zuzana Dobšáková, Ph.D., Mgr. Diana Nikulenkov Grochová, Ph.D.
Thanatoforická dysplázie TD1, TD2	FGFR3	187600
RNDr. Jitka Kadlecová, Ph.D.		c.742C>T, c.1118A>G, c.1948A>G		ENST00000260795
Spinální muskulární atrofie typ I	SMN1	253300
Mgr. Markéta Hiemerová
Delece v AZF na Y chromozomu (sterilita u mužů)	AZFa,b,c	415000
RNDr. Jitka Kadlecová, Ph.D.		základní analýza delecí Y chromozomu
Sy. fragilního X,( FRAXA)	FMR1	309550
Ing. Zuzana Dobšáková, Ph.D.
Achondroplázie	FGFR3	100800
RNDr, Jitka Kadlecová, Ph.D.		detekce nejčastější mutace c.1138G>A
Neurofibromatóza typu I	NF1	162200
Mgr.Markéta Hiemerová, RNDr. Jitka Kadlecová, Ph.D.		NGS sekvenování v rámci panelu genů - Rasopatie,		MLPA
cytomegalovirus	CMV	900010
Mgr. Lucie Durcová, Mgr. Tereza Vránová
Sy. prodlouženého QT intervalu	LQT	192500
RNDr. Jitka Kadlecová, Ph.D., Mgr. Lucie Durcová, Mgr. Eliška Svobodová, Mgr. Diana Nikulenkov Grochová, Ph.D.		NGS sekvenování v rámci panelu - Kardiomyopatie
Hluchota (nesyndromální) - DFNB1	GJB2	220290
RNDr. Jitka Kadlecová, Ph.D.		c.35delG, c.71G>A, c.313-326del14, c.101T>C		NM_004004.5, sekvenace exonu 2
Neurofibromatóza typu II	NF2	101000
Mgr. Markéta Hiemerová, RNDr. Jitka Kadlecová, Ph.D.		NGS sekvenování v rámci panelu genů - Rasopatie		MLPA
Vyšetření chromozomálních aberací se zaměřením na nejčastější mikrodeleční/duplikační syndromy metodou array-CGH		900065
Ing. Zuzana Dobšáková, Ph.D., Mgr. Markéta Hiemerová, Mgr. Tereza Vránová, Mgr. Diana Nikulenkov Grochová, Ph.D.
Alportův syndrom	COL4A5	301050
RNDr. Jitka Kadlecová, Ph.D., Mgr. Lucie Durcová, Mgr. Eliška Svobodová, Mgr. Diana Nikulenkov Grochová, Ph.D.		v genech COL4A5, COL4A3, COL4A4, CFHR5, MYH9		součástí NGS panelu Kardio
Holt Oramův syndrom	TBX5	142900
RNDr. Jitka Kadlecová, Ph.D., Mgr. Lucie Durcová, Mgr. Eliška Svobodová, Mgr. Diana Nikulenkov Grochová, Ph.D.		NGS sekvenování v rámci panelu genů - Rasopatie

NGS panely

Heredity CES (3332) (Klinický exom (CES)) AAAS, AAGAB, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCB6, ABCB7, ABCC2, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ABL1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACD, ACE, ACE2, ACO2, ACOX1, ACP4, ACP5, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6A, ACTL6B, ACTN1, ACTN2, ACTN4, ACVR1, ACVR2B, ACVRL1, ACY1, ADA, ADA2, ADAM10, ADAM17, ADAM9, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTS3, ADAMTS9, ADAMTSL2, ADAMTSL4, ADAR, ADAT3, ADCY5, ADD3, ADGRG1, ADGRG6, ADGRV1, ADK, ADNP, ADPRHL2, ADSL, ADSSL1, AEBP1, AFF2, AFF3, AFF4, AFG3L2, AGA, AGBL5, AGK, AGL, AGPAT2, AGPS, AGRN, AGT, AGTPBP1, AGTR1, AGXT, AHDC1, AHI1, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AKR1D1, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALKBH8, ALMS1, ALOX12B, ALOXE3, ALPI, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMBN, AMELX, AMER1, AMH, AMHR2, AMMECR1, AMN, AMPD2, AMT, ANAPC1, ANG, ANK1, ANK2, ANKH, ANKRD11, ANKRD26, ANKS6, ANO10, ANO3, ANO5, ANO6, ANOS1, ANTXR1, ANTXR2, ANXA11, AP1S1, AP1S2, AP1S3, AP2M1, AP2S1, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APC2, APCDD1, APOA1, APOA2, APOA5, APOB, APOC2, APOE, APOL1, APOPT1, APP, APPL1, APRT, APTX, AQP2, AQP5, AR, ARCN1, ARFGEF2, ARG1, ARHGAP29, ARHGAP31, ARHGDIA, ARHGEF1, ARHGEF18, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL2BP, ARL6, ARMC4, ARMC5, ARMC9, ARPC1B, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASCC1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATCAY, ATF6, ATIC, ATL1, ATL3, ATM, ATN1, ATOH7, ATP13A2, ATP13A3, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2C1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AUTS2, AVPR2, B2M, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D2, BAAT, BACH2, BAG3, BAP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCL11B, BCOR, BCS1L, BEAN1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BICD2, BIN1, BLM, BLNK, BLOC1S3, BLOC1S6, BMP1, BMP15, BMP2, BMP4, BMP6, BMPER, BMPR1A, BMPR1B, BNC2, BOLA3, BPGM, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRF1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BTK, BUB1B, C11orf70, C12orf4, C12orf57, C12orf65, C15orf41, C17orf62, C19orf12, C19orf70, C1QA, C1QB, C1QBP, C1QC, C1QTNF5, C1R, C1S, C2, C21orf2, C21orf59, C2CD3, C2orf71, C3, C4A, C4B, C4orf26, C5, C5orf42, C6, C7, C8A, C8B, C8G, C8orf37, C9, C9orf72, CA2, CA5A, CA8, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNA2D4, CACNB4, CAD, CALM1, CALM2, CALM3, CAMK2A, CAMK2B, CAMTA1, CANT1, CAPN1, CAPN3, CAPN5, CARD11, CARD14, CARD9, CARMIL2, CARS, CARS2, CASK, CASP10, CASP14, CASP8, CASQ1, CASQ2, CASR, CAST, CAT, CAV1, CAV3, CAVIN1, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC151, CCDC22, CCDC39, CCDC40, CCDC47, CCDC50, CCDC65, CCDC78, CCDC8, CCDC88C, CCL2, CCM2, CCND2, CCNF, CCNO, CCR5, CCT5, CD151, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDAN1, CDC42, CDC45, CDC6, CDC73, CDCA7, CDH1, CDH11, CDH15, CDH2, CDH23, CDH3, CDHR1, CDK10, CDK13, CDK4, CDK5RAP2, CDK8, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDON, CDSN, CDT1, CDX1, CEACAM16, CEBPA, CEBPE, CEL, CELSR1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP19, CEP290, CEP41, CEP55, CEP57, CEP63, CEP78, CEP83, CERKL, CERS3, CFAP53, CFB, CFC1, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFL2, CFP, CFTR, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD1L, CHD2, CHD3, CHD4, CHD7, CHD8, CHEK2, CHKB, CHM, CHMP1A, CHMP2B, CHMP4B, CHRDL1, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHSY1, CHUK, CIB1, CIB2, CIC, CIITA, CISD2, CIT, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN10, CLDN14, CLDN16, CLDN19, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLTC, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR2, CNNM2, CNNM4, CNOT1, CNOT3, CNPY3, CNTNAP1, CNTNAP2, COA5, COA6, COA7, COASY, COCH, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A3BP, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLQ, COMP, COPA, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CP, CPA6, CPAMD8, CPOX, CPS1, CPT1A, CPT1C, CPT2, CR2, CRADD, CRB1, CRB2, CREB3L1, CREB3L3, CREBBP, CRIPT, CRLF1, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CSF1R, CSF2RA, CSF2RB, CSF3R, CSNK1D, CSNK2A1, CSNK2B, CSPP1, CSRP3, CSTA, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTH, CTLA4, CTNNA2, CTNNB1, CTNND1, CTNS, CTPS1, CTR9, CTSA, CTSC, CTSD, CTSF, CTSK, CTU2, CUBN, CUL3, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYBRD1, CYC1, CYCS, CYFIP2, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP24A1, CYP26B1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP4V2, CYP51A1, CYP7A1, CYP7B1, D2HGDH, DAB1, DAG1, DARS, DARS2, DBH, DBR1, DBT, DCAF17, DCC, DCDC2, DCHS1, DCLRE1B, DCLRE1C, DCN, DCPS, DCTN1, DCX, DCXR, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX3X, DDX41, DDX58, DDX59, DEAF1, DEF6, DEGS1, DENND5A, DEPDC5, DES, DFNA5, DFNB59, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHPS, DHTKD1, DHX30, DIAPH1, DICER1, DIS3L2, DISP1, DKC1, DLAT, DLC1, DLD, DLG3, DLG4, DLL3, DLL4, DLX3, DLX5, DMD, DMP1, DMPK, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC19, DNAJC21, DNAJC3, DNAJC5, DNAJC6, DNAL1, DNASE1L3, DNASE2, DNM1, DNM1L, DNM2, DNMBP, DNMT1, DNMT3A, DNMT3B, DOCK2, DOCK3, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DRC1, DSC2, DSC3, DSCAM, DSE, DSG1, DSG2, DSG4, DSP, DSPP, DST, DSTYK, DTNBP1, DUOX2, DUOXA2, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYNC2LI1, DYRK1A, DYRK1B, DYSF, DZIP1L, EARS2, EBF3, EBP, ECEL1, ECHS1, EDA, EDAR, EDARADD, EDN3, EDNRA, EDNRB, EED, EEF1A2, EFEMP1, EFEMP2, EFHC1, EFL1, EFNB1, EFTUD2, EGF, EGFR, EGLN1, EGR2, EHMT1, EIF2AK3, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELANE, ELN, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMD, EML1, EMP2, EMX2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOGT, EP300, EPAS1, EPB41, EPB42, EPCAM, EPG5, EPHA2, EPHB4, EPM2A, EPOR, EPRS, EPS8, ERBIN, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN1, ERLIN2, ESCO2, ESPN, ESRRB, ETFA, ETFB, ETFDH, ETHE1, ETV6, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXPH5, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F8, F9, FA2H, FAAP24, FADD, FAH, FAM111A, FAM111B, FAM126A, FAM161A, FAM20A, FAM20C, FAM46A, FAM58A, FAM83H, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FAS, FASLG, FASTKD2, FAT1, FAT4, FBLN5, FBN1, FBN2, FBP1, FBXL3, FBXL4, FBXO11, FBXO7, FCGR2A, FCGR3A, FCGR3B, FCHO1, FCN3, FDPS, FDX2, FDXR, FECH, FERMT1, FERMT3, FEZF1, FGA, FGB, FGD1, FGD4, FGF10, FGF12, FGF14, FGF16, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FGG, FH, FHL1, FHOD3, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLG, FLG2, FLI1, FLNA, FLNB, FLNC, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FN1, FOLR1, FOXA2, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXG1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FPR1, FPR2, FRAS1, FREM1, FREM2, FRMD4A, FRMD7, FRMPD4, FRRS1L, FSHB, FSHR, FTCD, FTL, FTSJ1, FUCA1, FUS, FUT2, FUT8, FXN, FXR1, FXYD2, FYB1, FYCO1, FZD2, FZD4, FZD6, G6PC, G6PC3, G6PD, GAA, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GAN, GANAB, GARS, GAS8, GATA1, GATA2, GATA3, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCM2, GCNT2, GDAP1, GDF1, GDF2, GDF5, GDF6, GDI1, GEMIN4, GFAP, GFER, GFI1, GFI1B, GFM1, GFM2, GFPT1, GGCX, GH1, GHR, GHRHR, GHSR, GIF, GINS1, GIPC3, GJA1, GJA3, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLI1, GLI2, GLI3, GLIS3, GLMN, GLRA1, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNA11, GNA14, GNAI1, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNAT2, GNB1, GNB4, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GORAB, GOSR2, GOT2, GP1BA, GP1BB, GP6, GP9, GPAA1, GPC3, GPC4, GPC6, GPD1, GPHN, GPI, GPIHBP1, GPNMB, GPR143, GPR179, GPR68, GPSM2, GPT2, GREB1L, GRHL2, GRHL3, GRHPR, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRK1, GRM1, GRM6, GRN, GRXCR1, GSC, GSN, GSR, GSS, GTF2H5, GTPBP2, GTPBP3, GUCA1A, GUCA1B, GUCY1A3, GUCY2C, GUCY2D, GUSB, GYG1, GYS1, GYS2, GZF1, H19, HAAO, HACE1, HADH, HADHA, HADHB, HAMP, HARS, HARS2, HAVCR2, HAX1, HBA1, HBA2, HBB, HBD, HBG1, HBG2, HCCS, HCFC1, HCN1, HCN2, HCN4, HDAC4, HDAC8, HECW2, HELLS, HEPACAM, HERC1, HES7, HESX1, HEXA, HEXB, HFE, HFE2, HFM1, HGD, HGSNAT, HIBCH, HINT1, HIST1H1E, HIVEP2, HK1, HLA-B, HLA-DRB1, HLCS, HMBS, HMGA2, HMGCL, HMGCS2, HMOX1, HMX1, HNF1A, HNF1B, HNF4A, HNRNPA1, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOGA1, HOXA1, HOXA11, HOXA13, HOXA2, HOXC13, HOXD13, HPCA, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRG, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSF4, HSPA9, HSPB1, HSPB8, HSPD1, HSPG2, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYLS1, HYOU1, IARS, IARS2, IBA57, ICK, ICOS, ICOSLG, IDH1, IDH2, IDH3A, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IFT81, IGF1, IGF1R, IGF2, IGFALS, IGHM, IGHMBP2, IGKC, IGLL1, IGSF1, IHH, IKBKB, IKBKG, IKZF1, IKZF5, IL10, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL17RD, IL18BP, IL1RAPL1, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, ILDR1, IMPAD1, IMPDH1, IMPG1, IMPG2, INF2, INO80, INPP5E, INPP5K, INPPL1, INS, INSR, INTS1, INTU, INVS, IQCB1, IQSEC2, IRAK1, IRAK4, IRF2BP2, IRF2BPL, IRF3, IRF4, IRF6, IRF7, IRF8, IRF9, IRS4, IRX5, ISCA1, ISCA2, ISCU, ISG15, ISPD, ITCH, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGAM, ITGB2, ITGB3, ITGB4, ITGB6, ITK, ITM2B, ITPA, ITPR1, ITSN1, ITSN2, IVD, IYD, JAG1, JAGN1, JAK1, JAK3, JAM3, JPH2, JPH3, JUP, KANK2, KANSL1, KARS, KAT6A, KAT6B, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE1, KCNE2, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ2, KCNJ5, KCNJ6, KCNK3, KCNK4, KCNK9, KCNMA1, KCNN4, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD1, KCTD17, KCTD3, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KDSR, KERA, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA1161, KIAA1549, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF1C, KIF21A, KIF22, KIF23, KIF2A, KIF5A, KIF5C, KIF7, KISS1R, KIT, KITLG, KIZ, KL, KLF1, KLHL24, KLHL3, KLHL40, KLHL41, KLHL7, KLK4, KLKB1, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNG1, KNL1, KPTN, KRAS, KRIT1, KRT1, KRT10, KRT12, KRT14, KRT16, KRT17, KRT2, KRT25, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT74, KRT85, KRT9, KYNU, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE1, LARP7, LARS, LARS2, LAT, LBR, LCA5, LCAT, LCK, LCT, LDB3, LDHA, LDLR, LDLRAP1, LEMD3, LEP, LEPR, LFNG, LGI1, LGI4, LHB, LHCGR, LHFPL5, LHX3, LHX4, LIAS, LIFR, LIG1, LIG4, LIM2, LINS1, LIPA, LIPE, LIPH, LIPN, LIPT1, LIPT2, LITAF, LMAN1, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMOD3, LMX1B, LNPK, LONP1, LOR, LOX, LOXHD1, LPAR6, LPIN1, LPIN2, LPL, LRAT, LRBA, LRIG2, LRIT3, LRMDA, LRP2, LRP4, LRP5, LRPPRC, LRRC56, LRRC6, LRRK2, LRSAM1, LRTOMT, LSS, LTBP2, LTBP3, LTBP4, LYRM7, LYST, LYZ, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MAD2L2, MAF, MAFB, MAGED2, MAGEL2, MAGI2, MAGT1, MAK, MALT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K1, MAP3K14, MAP3K20, MAP3K3, MAP3K7, MAPK8IP3, MAPKBP1, MAPRE2, MAPT, MARS, MARS2, MARVELD2, MASP1, MASP2, MAST1, MAT1A, MATN3, MATR3, MAX, MBD5, MBOAT7, MBTPS2, MC2R, MC4R, MCCC1, MCCC2, MCEE, MCFD2, MCIDAS, MCM3AP, MCM4, MCM8, MCM9, MCOLN1, MCPH1, MDH2, MECOM, MECP2, MECR, MED12, MED13L, MED17, MED23, MEF2C, MEFV, MEGF10, MEGF8, MEIS2, MEN1, MEOX1, MERTK, MESP2, MET, METTL23, MFAP5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MIB1, MICU1, MID1, MIP, MIPEP, MIR184, MITF, MKKS, MKL1, MKS1, MLC1, MLH1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMP13, MMP2, MMP20, MMP21, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPI, MPIG6B, MPL, MPLKIP, MPO, MPV17, MPZ, MRAP, MRE11, MRPL3, MRPL44, MRPS2, MRPS22, MRPS34, MS4A1, MSH2, MSH6, MSL3, MSMO1, MSN, MSRB3, MSTO1, MSX1, MSX2, MTAP, MTFMT, MTHFD1, MTHFR, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUC1, MUSK, MUT, MUTYH, MVD, MVK, MYBPC1, MYBPC3, MYCN, MYD88, MYH10, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL1, MYL2, MYL3, MYLK, MYMK, MYO15A, MYO18B, MYO1E, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO9A, MYOC, MYOCD, MYOT, MYPN, MYRF, MYSM1, MYT1, MYT1L, NAA10, NAA15, NACC1, NADK2, NADSYN1, NAF1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAXE, NBAS, NBEA, NBEAL2, NBN, NCF1, NCF2, NCF4, NCSTN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NECTIN4, NEDD4L, NEFH, NEFL, NEK1, NEK8, NEU1, NEUROD1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFASC, NFAT5, NFE2L2, NFIA, NFIB, NFIX, NFKB1, NFKB2, NFKBIA, NFKBID, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPA1, NIPAL4, NIPBL, NKX2-1, NKX2-2, NKX2-5, NKX3-2, NKX6-2, NLGN3, NLRC4, NLRP1, NLRP12, NLRP3, NMNAT1, NNT, NOBOX, NOD2, NODAL, NOG, NONO, NOP10, NOP56, NOS2, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPRL2, NPRL3, NR0B1, NR1H4, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR5A1, NRAS, NRL, NRXN1, NSD1, NSD2, NSDHL, NSMCE3, NSMF, NSUN2, NT5C2, NT5C3A, NTHL1, NTRK1, NTRK2, NUBPL, NUP107, NUP133, NUP85, NUP93, NUS1, NXN, NYX, OAS1, OAT, OBSL1, OCA2, OCLN, OCRL, ODC1, OFD1, OGT, OPA1, OPA3, OPHN1, OPN1LW, OPN1MW, OPTN, ORAI1, ORC1, ORC4, ORC6, OSBPL2, OSGEP, OSMR, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTUD6B, OTULIN, OTX2, OVOL2, OXCT1, P2RX2, P2RY12, P3H1, P3H2, P4HB, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PANK2, PAPPA2, PAPSS2, PARK7, PARN, PARS2, PAX1, PAX2, PAX3, PAX5, PAX6, PAX7, PAX8, PAX9, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCGF2, PCK1, PCNT, PCSK1, PCSK9, PCYT1A, PCYT2, PDCD10, PDE10A, PDE11A, PDE2A, PDE3A, PDE4D, PDE6A, PDE6B, PDE6C, PDE6G, PDE8B, PDGFB, PDGFRA, PDGFRB, PDHA1, PDHB, PDHX, PDLIM3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHACTR1, PHEX, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PHOX2B, PHYH, PIEZO1, PIEZO2, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIH1D3, PIK3C2A, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PIKFYVE, PINK1, PITRM1, PITX1, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKHD1, PKLR, PKP1, PKP2, PLA2G4A, PLA2G5, PLA2G6, PLAA, PLAG1, PLAT, PLAU, PLCB1, PLCB4, PLCE1, PLCG2, PLEC, PLEKHG5, PLEKHM1, PLG, PLIN1, PLK4, PLN, PLOD1, PLOD2, PLP1, PLPBP, PLS3, PMM2, PMP2, PMP22, PMPCA, PMPCB, PMS2, PNKD, PNKP, PNP, PNPLA1, PNPLA2, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, PODXL, POFUT1, POGLUT1, POGZ, POLA1, POLD1, POLD2, POLE, POLE2, POLG, POLG2, POLH, POLR1A, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POLR3C, POLR3F, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F3, POU3F4, POU4F3, PPA2, PPARG, PPCS, PPIB, PPM1D, PPOX, PPP1CB, PPP1R13L, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R2B, PPP2R5D, PPP3CA, PPT1, PQBP1, PRCD, PRDM12, PRDM5, PRF1, PRG4, PRICKLE1, PRKACG, PRKAG2, PRKAR1A, PRKCD, PRKCG, PRKCSH, PRKD1, PRKDC, PRKG1, PRKN, PRKRA, PRMT7, PRNP, PROC, PRODH, PROK2, PROKR2, PROM1, PROP1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRR12, PRRT2, PRSS1, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSPH, PSTPIP1, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH, PTH1R, PTHLH, PTPN11, PTPN14, PTPN23, PTPRC, PTPRO, PTPRQ, PTRH2, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PXDN, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS, QDPR, QRICH1, QRSL1, RAB11B, RAB18, RAB23, RAB27A, RAB28, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC2, RAC3, RAD21, RAD51, RAD51C, RAD51D, RAF1, RAG1, RAG2, RAI1, RALA, RALGAPA1, RANBP2, RAPSN, RARB, RARS, RARS2, RASA1, RASGRP1, RASGRP2, RAX, RAX2, RB1, RBBP8, RBCK1, RBM10, RBM20, RBM8A, RBP3, RBP4, RBPJ, RCBTB1, RD3, RDH12, RDH5, RDX, RECQL4, REEP1, REEP2, REEP6, REL, RELA, RELB, RELN, RELT, REN, RERE, REST, RET, RETREG1, RFT1, RFWD3, RFX5, RFX6, RFXANK, RFXAP, RGS9, RHAG, RHBDF2, RHO, RHOA, RHOBTB2, RHOH, RIN2, RIPK1, RIPK4, RIPOR2, RIT1, RLBP1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF168, RNF170, RNF213, RNF216, RNF31, RNU4ATAC, ROBO1, ROBO2, ROBO3, ROGDI, ROR2, RORA, RORB, RORC, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL13, RPL15, RPL23, RPL26, RPL27, RPL31, RPL35A, RPL36, RPL5, RPL9, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS6KA3, RPS7, RPSA, RRAS2, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO4, RTEL1, RTN2, RTN4IP1, RTTN, RUNX1, RUNX2, RYR1, RYR2, RYR3, S1PR2, SACS, SAG, SALL1, SALL4, SAMD12, SAMD9, SAMD9L, SAMHD1, SAR1B, SARS2, SASH1, SATB2, SBDS, SBF1, SBF2, SC5D, SCAPER, SCARB2, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SDR9C7, SEC23B, SEC24D, SEC61A1, SEC63, SECISBP2, SELENON, SEMA3E, SEPSECS, SEPT9, SERAC1, SERPINA1, SERPINB6, SERPINB7, SERPINB8, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETX, SF3B4, SFRP4, SFTPA2, SFTPB, SFTPC, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SGSH, SH2D1A, SH3BP2, SH3KBP1, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHOX, SI, SIGMAR1, SIK1, SIK3, SIL1, SIM1, SIN3A, SIX1, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A7, SLC11A2, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A12, SLC16A2, SLC17A5, SLC17A8, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A12, SLC22A5, SLC24A1, SLC24A4, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A7, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A9, SLC30A10, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC38A8, SLC39A13, SLC39A14, SLC39A4, SLC39A7, SLC39A8, SLC3A1, SLC40A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A1, SLC9A3, SLC9A3R1, SLC9A6, SLCO2A1, SLFN14, SLIT2, SLURP1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCD2, SMARCE1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMO, SMOC1, SMPD1, SMPD4, SMPX, SMS, SNAI2, SNAP25, SNAP29, SNCA, SNORA31, SNORD118, SNRNP200, SNRPB, SNX10, SNX14, SOD1, SOHLH1, SON, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX4, SOX5, SOX9, SP110, SP7, SPAG1, SPARC, SPART, SPAST, SPATA5, SPATA7, SPECC1L, SPEG, SPG11, SPG21, SPG7, SPINK1, SPINK5, SPINT2, SPPL2A, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRC, SRCAP, SRD5A2, SRD5A3, SRP54, SRP72, SRY, SSBP1, SSR4, ST14, ST3GAL3, ST3GAL5, STAC3, STAG1, STAG2, STAG3, STAMBP, STAR, STAT1, STAT2, STAT3, STAT5B, STIL, STIM1, STK11, STK4, STN1, STRA6, STRADA, STRC, STS, STUB1, STX11, STX16, STX1B, STX3, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SULT2B1, SUMF1, SUOX, SURF1, SUZ12, SYN1, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNJ1, SYP, SYT1, SYT2, SZT2, T, TAB2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF6, TALDO1, TANGO2, TAOK1, TAP1, TAP2, TAPBP, TAPT1, TARDBP, TAT, TAZ, TBC1D1, TBC1D20, TBC1D23, TBC1D24, TBC1D8B, TBCD, TBCE, TBCK, TBK1, TBL1X, TBL1XR1, TBP, TBR1, TBX1, TBX15, TBX18, TBX19, TBX20, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TCAP, TCF12, TCF20, TCF3, TCF4, TCIRG1, TCN2, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TDRD7, TECPR2, TECTA, TEK, TELO2, TENM3, TERC, TERT, TF, TFAP2A, TFAP2B, TFG, TFR2, TFRC, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGIF1, TGM1, TGM5, TGM6, TH, THAP1, THBD, THOC2, THOC6, THPO, THRA, THRB, TIA1, TICAM1, TIMM50, TIMM8A, TIMP3, TINF2, TIRAP, TJP2, TK2, TLK2, TLR3, TMC1, TMC6, TMC8, TMCO1, TMEM106B, TMEM107, TMEM126A, TMEM126B, TMEM127, TMEM138, TMEM165, TMEM173, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM38B, TMEM43, TMEM5, TMEM67, TMEM70, TMEM94, TMEM98, TMIE, TMPRSS2, TMPRSS3, TMPRSS6, TMTC3, TNFAIP3, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNNC1, TNNI2, TNNI3, TNNI3K, TNNT1, TNNT2, TNNT3, TNPO3, TNS2, TNXB, TOE1, TOP2B, TOP3A, TOPORS, TOR1A, TP53, TP53RK, TP63, TPI1, TPK1, TPM1, TPM2, TPM3, TPM4, TPO, TPP1, TPP2, TPRKB, TPRN, TRAC, TRAF3, TRAF3IP1, TRAF3IP2, TRAF7, TRAIP, TRAK1, TRAP1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC9, TRDN, TREM2, TREX1, TRHR, TRIM2, TRIM22, TRIM28, TRIM32, TRIM37, TRIM71, TRIM8, TRIO, TRIOBP, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPC6, TRPM1, TRPM4, TRPM6, TRPS1, TRPV3, TRPV4, TRPV6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN12, TSPAN7, TSPEAR, TSR2, TTBK2, TTC19, TTC21B, TTC25, TTC37, TTC7A, TTC8, TTI2, TTLL5, TTN, TTPA, TTR, TUB, TUBA1A, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TWNK, TXNDC15, TXNL4A, TYK2, TYMP, TYR, TYROBP, TYRP1, UBA1, UBA5, UBAP1, UBE2A, UBE2T, UBE3A, UBE3B, UBIAD1, UBQLN2, UBR1, UBTF, UCHL1, UFC1, UFM1, UGT1A1, UMOD, UMPS, UNC13D, UNC80, UNC93B1, UNG, UPB1, UPF3B, UQCC2, UQCRB, UROC1, UROD, UROS, USB1, USH1C, USH1G, USH2A, USP18, USP9X, UVSSA, VAC14, VAMP1, VAMP2, VAPB, VARS, VARS2, VCAN, VCL, VCP, VDR, VEGFC, VHL, VIM, VIPAS39, VKORC1, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13D, VPS33B, VPS35, VPS45, VPS53, VRK1, VSX1, VSX2, VWF, WAC, WARS, WARS2, WAS, WASF1, WASHC5, WDPCP, WDR1, WDR11, WDR19, WDR26, WDR34, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR60, WDR62, WDR72, WDR73, WDR81, WFS1, WHRN, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10A, WNT10B, WNT3, WNT5A, WNT7A, WRAP53, WRN, WT1, WWOX, XDH, XIAP, XK, XPA, XPC, XPR1, XRCC2, XRCC4, XYLT1, XYLT2, YAP1, YARS, YARS2, YWHAG, YY1, YY1AP1, ZAP70, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB1, ZEB2, ZFP57, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYND10, ZMYND11, ZNF142, ZNF148, ZNF341, ZNF408, ZNF423, ZNF462, ZNF469, ZNF711, ZSWIM6 Kontaktní osoba: Mgr. Lucie Durcová

Kardiomyopatie, arytmie a vrozené srdeční vady, 237 genů (237) (Cílený panel) A2ML1, ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, ADAMTS2, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, B2M, B4GALT7, BAG3, BGN, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CBL, CCDC11, CFC1, CFHR5, CHD7, CITED2, COL1A1, COL1A2, COL3A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, CRELD1, CRYAB, CSRP3, CTF1, CTNNA3, DCHS1, DES, DMD, DOLK, DPP6, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EVC, EVC2, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKTN, FLNA, FLNC, FOG2/ZFPM2, FOXE, FOXH1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GPD1L, GSN, HAND1, HAND2, HCN4, HEY2, HFE, HRAS, JAG1, JPH2, JUP, KAT6b, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LEFTY2, LMNA, LOX, LZTR1, MAP2K2, MAT2A, MED12, MED13L, MEK1, MFAP5, MIB1, MIB2, MOG1, MRAZ, MYBPC3, MYH11, MYH6, MYH7, MYH9, MYL2, MYL3, MYLK, MYLK2, MYLK3, MYOC, MYOM, MYOZ2, MYPN, NEBL, NEXN, NF1, NF2, NKX2-5, NKX2-6, NODAL, NOS1AP, NOTCH1, NOTCH2, NPPA, NR2F2, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PRKG1, PSEN2, PTPN11, RAF1, RASA1, RASA2, RBM10, RBM20, RBM8A, RIT1, RRAS, RYR1, RYR2, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SEMA3E, SGCD, SHOC2, SHROOM, SKI, SLC2A10, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SMARCB1, SNTA1, SOS1, SOS2, SPRED1, SYNE2, TAB2, TAZ, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM54, TRIM63, TRPM4, TTN, TTR, TXNRD2, VCL, ZIC3 Kontaktní osoba: RNDr. Jitka Kadlecová, Ph.D., Mgr. Lucie Durcová, Mgr. Eliška Svobodová, Mgr. Diana Nikulenkov Grochová, Ph.D. Poznámka: Součástí panelu jsou i geny asociované s dg Alportova sy a Ehlers-Danlos sy

Rasopatie (25) (Cílený panel) A2ML1, BRAF, CBL, HRAS, KAT6b, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SMARCB1, SOS1, SOS2, SPRED1 Kontaktní osoba: Mgr. Eliška Svobodová, RNDr. Jitka Kadlecová, Ph.D., Mgr. Diana Nikulenkov Grochová, Ph.D.

Upozornění: Za správnost údajů odpovídá pracoviště, které je do databáze nahlásilo.