Neurológiai panelek
A neurológiai betegségek az idegrendszert vagy az izmokat érintő rendellenességek rendkívül sokféle csoportját ölelik fel, beleértve a központi és perifériás idegrendszer működésében vagy szerkezetében fellépő problémákat. Ezek a betegségek az összes ritka betegség jelentős részét képviselik, és körülbelül 80%-uk genetikai eredetű. A tünetek sokrétűek lehetnek, mivel az idegrendszer számos testi funkciót irányít.
A genetikai diagnosztika az egyik legfontosabb eszköz a neurológiai betegségek kockázatának felmérésére, így segítve a megelőző kezelési lehetőségek kialakítását. Paneljeink lefedik a leggyakoribb örökletes neurológiai betegségeket, beleértve a disztóniát, epilepsziát, örökletes neuropátiákat, leukodisztrófiát, neuromuszkuláris rendellenességeket és mitokondriális betegségeket.
Genetikai diagnosztikai vizsgálat ajánlott, ha a tünetek neurológiai megbetegedésre utalnak, vagy ha a családi kórtörténetben veleszületett neurológiai betegség szerepel.
Választható neurológia panelek
Demencia panel (38 gén)
A demencia egy olyan állapot, amely a kognitív funkciók, például a memória, a gondolkodás és a nyelv funkciók romlásával jár, és jelentősen befolyásolja a mindennapi életet. Leggyakrabban, de nem mindig, az időskorban jelentkezik. Különböző klinikai és genetikai altípusai vannak, melynek tünetei azonban gyakran átfednek egymással.
Gének listája (38 gén):
APP, ATN1, ATXN1, ATXN10, ATXN2, C9orf72, CHCHD10, CHMP2B, CSF1R, DCTN1, DNAJC5, DNMT1, EPM2A, FUS, GBA, GRN, HNRNPA1, HTRA1, HTT, ITM2B, JPH3, MAPT, NHLRC1, NOP56, NOTCH3, PRNP, PSEN1, PSEN2, SNCA, SNCB, TARDBP, TBK1, TBP, TREM2, TYROBP, UBQLN2, VCP, XK
Disztónia panel (966 gén)
A disztónia egy neurológiai rendellenesség, amely fokozott izomtónussal és akaratlan, rendellenes mozgásokkal jár. Érintheti csak a test egyes részeit vagy izomcsoportjait, de generalizált is lehet. A tünetek változó súlyosságúak, és a betegek általában fájdalmat, funkcionális korlátozottságot és szociális kényelmetlenséget tapasztalnak a mindennapi tevékenységek során.
Gének listája (966 gén):
AAAS, AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB7, ABCD1, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD6, ACER3, ACO2, ACOX1, ACTB, ACY1, ACSF3, ADA, ADAR, ADCY5, ADGRG1, ADSL, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AHI1, AIFM1, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, AMACR, AMN, AMPD2, AMT, ANKS6, ANO10, ANO3, AP1S2, APOA1, APOA5, APOB, APOC2, APOE, APRT, APTX, ARFGEF3, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSL, ARX, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATCAY, ATIC, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP5MC3, ATP6AP1, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BOLA3, BTD, C19orf12, C1QBP, C2CD3, C9orf72, CA5A, CA8, CACNA1A, CACNA1G, CACNB4, CAMK4, CAMTA1, CASK, CAT, CBLIF, CBS, CC2D2A, CCDC115, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFAP410, CFAP43, CHCHD10, CHCHD2, CHKB, CHMP1A, CHMP2B, CHST14, CHST3, CHST6, CHSY1, CILK1, CISD2, CIZ1, CLCN2, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CNNM2, COA3, COA6, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL6A3, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CPLANE1, CPOX, CPS1, CPT1A, CPT2, CRB2, CRPPA, CTH, CTNS, CTSA, CTSC, CTSD, CTSK, CUBN, CWF19L1, CYC1, CYCS, CYP27A1, CYP2U1, CYP7B1, CSF1R, CSPP1, CSTB, D2HGDH, DAG1, DARS1, DARS2, DBH, DBT, DCAF10, DCAF17, DCC, DCDC2, DCTN1, DCXR, DDC, DDHD2, DDX59, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHTKD1, DKC1, DLAT, DLD, DMPK, DMXL2, DNA2, DNAH1, DNAJC12, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNMT1, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD5, DYM, DYNC2H1, DYNC2I2, DYNC2LI1, DYNLT2B, EARS2, EBP, ECHS1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELAC2, ELOVL4, ENO3, EPG5, EPM2A, ERCC6, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, FA2H, FAH, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FBXO7, FDXR, FECH, FGF14, FGFR2, FH, FITM2, FKRP, FKTN, FLAD1, FLVCR1, FMO3, FOLR1, FOXG1, FOXP2, FOXRED1, FTCD, FTL, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GARS1, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJC2, GK, GLA, GLB1, GLDC, GLI3, GLIS2, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNB1, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPD1, GPHN, GRHPR, GRID2, GRIN1, GRM1, GRN, GSS, GTPBP2, GTPBP3, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HCFC1, HCCS, HECW2, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HNF1B, HNRNPH1, HOGA1, HPCA, HPD, HPRT1, HPS1, HSD17B10, HSD17B4, HSD3B7, HSPD1, HTRA2, HTT, HYAL1, HYLS1, IARS2, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IMPDH2, INPP5E, INVS, IPPK, IQCB1, IRF2BPL, ISCU, ISG15, ITPA, ITPR1, IVD, JPH3, KARS1, KCNA1, KCNC3, KCND3, KCNJ10, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCTD17, KIAA0586, KIF1A, KIF1C, KIF7, KMT2B, KYNU, L2HGDH, LAMP2, LARGE1, LARS2, LBR, LCAT, LCT, LDHA, LDLR, LDLRAP1, LIAS, LIPA, LIPC, LIPT1, LMBRD1, LONP1, LPIN1, LPL, LRPPRC, LRRK2, LZTFL1, LYST, MAGT1, MAL, MAN1B1, MAN2B1, MANBA, MAOA, MAPKBP1, MAPT, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MED27, MFF, MFN2, MFSD8, MGAT2, MGME1, MKKS, MKS1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MR1, MRE11, MRPL3, MRPS22, MRPS34, MSMO1, MT-ATP6, MT-ND1, MT-ND6, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MVK, MYORG, NAGA, NAGLU, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEK1, NEK8, NEU1, NFU1, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR4A2, NSDHL, NT5C3A, NUBPL, NUP54, NUP62, OAT, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPLAH, OTC, OXCT1, PAH, PANK2, PARK7, PARS2, PAX6, PC, PCBD1, PCCA, PCCB, PCDH12, PCK1, PCSK9, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDPR, PDSS1, PDSS2, PDX1, PDYN, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PINK1, PITX3, PKD1, PKD2, PKHD1, PLA2G6, PLP1, PMM2, PMPCA, PNKD, PNKP, PNP, PNPLA6, PNPO, PNPT1, POLG, POLG2, POLR3A, POMGNT1, POMGNT2, POMT1, POMT2, POR, PPA2, PPOX, PPP2R2B, PPP2R5D, PPT1, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRODH, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSPH, PTEN, PTF1A, PTS, PUS1, PYCR1, PYGL, PYGM, QARS1, QDPR, RAB39B, RANBP2, RARS2, RBCK1, RBP4, RELN, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF216, RNU7-1, ROBO3, RPGRIP1L, RPIA, RPL10, RRM2B, RXYLT1, RYR1, SACS, SAMHD1, SAR1B, SARS2, SBDS, SC5D, SCN1A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SEPSECS, SERAC1, SETX, SGCE, SGSH, SHQ1, SI, SIL1, SKIV2L, SLC12A3, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC30A9, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A1, SLC46A1, SLC52A2, SLC52A3, SLC5A1, SLC6A19, SLC6A20, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SMPD1, SMPD4, SNCA, SNCAIP, SNORD118, SNX14, SPATA5L1, SPG11, SPG7, SPR, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STS, STT3A, STUB1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNJ1, SYT1, TACO1, TAF1, TALDO1, TANGO2, TARS2, TAT, TBC1D24, TBK1, TBP, TCN2, TCTN1, TCTN2, TCTN3, TERT, TFR2, TGM6, TH, THAP1, TIMM50, TIMM8A, TINF2, TK2, TMEM107, TMEM126B, TMEM138, TMEM151A, TMEM165, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TOE1, TOR1A, TPK1, TPP1, TRAF3IP1, TREM2, TREX1, TRIM37, TRMU, TRNT1, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TSPOAP1, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTPA, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUFM, TUSC3, TWNK, TXNDC15, TYMP, UBTF, UCHL1, UGT1A1, UMOD, UMPS, UQCRB, UQCRQ, UROC1, UROD, UROS, VAC14, VAMP1, VAMP2, VARS2, VIPAS39, VKORC1, VLDLR, VPS11, VPS13A, VPS13B, VPS13D, VPS16, VPS33B, VPS35, VPS37A, VPS41, VPS4A, VPS53, VRK1, WDPCP, WDR19, WDR35, WDR45, WDR73, WDR81, WFS1, WWOX, WWTR1, XDH, XK, XPNPEP3, XPR1, XYLT1, XYLT2, YARS2, YIF1B, YY1, ZNF423, ZSWIM6, ZSWIM6
Leukodisztrófiák panel (3158 gén)
A leukodisztrófiák olyan ritka genetikai rendellenességek, amelyek a központi idegrendszer myelinje, azaz a neuronokat körülvevő védőréteg károsodásával járnak. Többségük korai életkorban kezdődik, de felnőttkori formák is ismertek. Ezek a betegségek általában progressziv természetűek, és a motoros, valamint a kognitív funkciók romlását, esetenként epilepsziás rohamokat foglalnak magukban.
Gének listája (3158 gén):
A2ML1, AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA2, ABCB11, ABCB4, ABCB6, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD16A, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACE2, ACER3, ACIN1, ACO2, ACOT9, ACOX1, ACOX2, ACP5, ACTA2, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ACSF3, ACSL4, ADA, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADD1, ADD3, ADGRG1, ADGRG4, ADGRG6, ADGRL1, ADGRV1, ADK, ADNP, ADPRS, ADRA2B, ADSL, AFF2, AFF3, AFF4, AFG3L2, AFP, AGA, AGAP1, AGK, AGL, AGMO, AGO1, AGO2, AGPAT2, AGPAT3, AGPS, AGT, AGTPBP1, AGTR2, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIPL1, AIRE, AK1, AK2, AKAP17A, AKAP4, AKAP6, AKR1C2, AKR1D1, AKT1, AKT3, ALAD, ALAS2, ALDH18A1, ALDH1A3, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG10, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMER1, AMN, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKH, ANKRD11, ANKRD17, ANO10, ANO3, ANO4, ANO5, ANTXR1, AOX1, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP2S1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOA1, APOA5, APOB, APOC2, APOE, APOO, APP, APRT, APTX, AQP7, AR, ARCN1, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGAP31, ARHGAP35, ARHGAP36, ARHGAP6, ARHGEF2, ARHGEF4, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARIH1, ARL13B, ARL14EP, ARL6, ARMC9, ARSA, ARSB, ARSF, ARSG, ARSK, ARSL, ARV1, ARX, ASAH1, ASB12, ASCC3, ASCL1, ASH1L, ASL, ASMT, ASMTL, ASNS, ASPA, ASPH, ASPM, ASS1, ASTN1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATAD3B, ATCAY, ATG4D, ATG7, ATIC, ATL1, ATM, ATN1, ATP11A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP2B1, ATP2B3, ATP2C2, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MF, ATP5MG, ATP5MGL, ATP5MK, ATP5PB, ATP5PD, ATP5PF, ATP5PO, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATP9A, ATPAF1, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN2L, ATXN3, ATXN3L, ATXN7, ATXN7L3, AUH, AUTS2, AVP, AVPR2, AWAT2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, B9D2, BAAT, BAP1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BDH1, BDP1, BEAN1, BFSP2, BGN, BHLHA9, BICD2, BICRA, BIN1, BLM, BLOC1S1, BLTP1, BMP15, BMP4, BMPER, BMPR1B, BOLA1, BOLA2, BOLA3, BORCS8, BPIFB6, BPNT2, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRF1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BTK, BUB1, BUB1B, C12orf4, C12orf57, C19orf12, C1GALT1C1, C1QBP, C2CD3, C2orf69, C9orf72, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNB4, CACNG2, CAD, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, CAMLG, CAMSAP1, CAMTA1, CANT1, CAP1, CAPN10, CAPN15, CAPRIN1, CAPZA2, CARS1, CARS2, CASK, CASP2, CASR, CAT, CBL, CBLIF, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC115, CCDC174, CCDC186, CCDC22, CCDC32, CCDC39, CCDC40, CCDC47, CCDC65, CCDC78, CCDC8, CCDC82, CCDC88A, CCDC88C, CCN2, CCNA2, CCNB3, CCND2, CCNO, CCNQ, CCT5, CD320, CD96, CD99, CDC40, CDC42, CDC42BPB, CDC45, CDC6, CDH11, CDH15, CDH2, CDH23, CDH3, CDK10, CDK13, CDK16, CDK19, CDK5R1, CDK5RAP2, CDK8, CDK9, CDKL5, CDKN1C, CDON, CDT1, CELF2, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP295, CEP41, CEP55, CEP57, CEP63, CEP83, CEP85L, CEP89, CERT1, CETP, CFAP418, CFAP47, CFP, CHAMP1, CHCHD10, CHD1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKA, CHKB, CHL1, CHM, CHMP1A, CHMP3, CHRDL1, CHRM1, CHRNA2, CHRNA4, CHRNB2, CHRNG, CHST14, CHST3, CHST6, CHSY1, CHUK, CIAO1, CIB2, CIC, CISD2, CIT, CKAP2L, CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN11, CLDN16, CLDN19, CLDN5, CLEC16A, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLPS, CLPX, CLTC, CMC4, CMIP, CNDP1, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNOT9, CNP, CNPY3, CNTN3, CNTN4, CNTNAP1, CNTNAP2, COA1, COA3, COA4, COA5, COA6, COA7, COA8, COASY, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL25A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A6, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLGALT1, COMP, COPB1, COPB2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, CP, CPA6, CPD, CPE, CPLANE1, CPLX1, CPOX, CPS1, CPSF3, CPT1A, CPT2, CPXCR1, CRADD, CRAT, CRB1, CRB2, CRBN, CREB3L3, CREBBP, CRELD1, CRLF2, CRLS1, CRPPA, CRX, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CTBP1, CTC1, CTCF, CTDP1, CTH, CTNNA2, CTNNB1, CTNND1, CTNND2, CTNS, CTPS2, CTR9, CTSA, CTSC, CTSD, CTSF, CTSK, CTTNBP2, CTU2, CUBN, CUL3, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXorf58, CYB5R3, CYC1, CYCS, CYFIP2, CYP1B1, CYP24A1, CYP27A1, CYP2U1, CYP7A1, CYP7B1, CSDE1, CSF1R, CSF2RA, CSGALNACT1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CST3, CSTB, CSTF2, D2HGDH, DAB1, DACT1, DAG1, DAGLA, DALRD3, DARS1, DARS2, DBH, DBT, DCAF17, DCC, DCHS1, DCHS2, DCPS, DCTN1, DCX, DCXR, DDB1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX23, DDX3X, DDX53, DDX58, DDX59, DDX6, DEAF1, DECR1, DEGS1, DENND5A, DENND5B, DEPDC5, DGKH, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHODH, DHPS, DHRSX, DHTKD1, DHX30, DHX32, DHX37, DHX9, DIABLO, DIAPH1, DIAPH2, DIP2B, DIPK2A, DIS3L2, DKC1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLL4, DLST, DMD, DMGDH, DMP1, DMPK, DMXL2, DNA2, DNAAF11, DNAAF3, DNAAF4, DNAH14, DNAJC12, DNAJC19, DNAJC3, DNAJC5, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DOCK11, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOHH, DOLK, DONSON, DPAGT1, DPEP1, DPF1, DPF2, DPF3, DPH1, DPH2, DPH5, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DPYSL2, DPYSL5, DRD2, DROSHA, DSCAM, DSPP, DST, DSTYK, DTD1, DTYMK, DVL1, DVL3, DYM, DYNC1H1, DYNC1I2, DYNC2H1, DYNC2I1, DYNC2I2, DYRK1A, EARS2, EBF3, EBP, ECEL1, ECHS1, ECSIT, EDA, EDEM3, EDNRA, EDNRB, EED, EEF1A2, EEF1B2, EFHC1, EFNB1, EFTUD2, EGF, EGR2, EHBP1L1, EHHADH, EHMT1, EIF2A, EIF2AK1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EIF4A3, EIF4G1, EIF5A, ELAC2, ELK1, ELN, ELOVL1, ELOVL4, ELOVL5, ELP2, EMC1, EMC10, EMG1, EML1, EMX2, EN2, ENO3, ENOX2, ENPP1, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPG5, EPHA7, EPM2A, EPPK1, EPRS1, ERAL1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERGIC3, ERI1, ERLIN2, ERMARD, ESAM, ESCO2, ESX1, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC2, EXOC7, EXOSC3, EXOSC8, EXT1, EXT2, EXTL3, EYA1, EZH1, EZH2, F5, FA2H, FAAH2, FAH, FAM111A, FAM111B, FAM120C, FAM126A, FAM161A, FAM177A1, FAM20A, FAM20C, FAM47B, FAM50A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FAR1, FARS2, FARSA, FARSB, FASN, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBP1, FBP2, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO25, FBXO28, FBXO31, FBXO7, FBXO8, FBXW11, FBXW4, FBXW7, FCSK, FDFT1, FDX2, FDXR, FECH, FEM1B, FEM1C, FGD1, FGD4, FGF10, FGF12, FGF13, FGF14, FGF3, FGFR1, FGFR2, FGFR3, FH, FHIP2A, FHL1, FIBP, FICD, FIG4, FILIP1, FKBP14, FKBP6, FKBPL, FKRP, FKTN, FLAD1, FLNA, FLNB, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FOLR1, FOLR2, FOLR3, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXN1, FOXP1, FOXP2, FOXP3, FOXP4, FOXR1, FOXRED1, FRA10AC1, FRAS1, FREM1, FREM2, FRMD5, FRMD7, FRMPD4, FRRS1L, FRY, FRYL, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXN, FXYD2, FYCO1, FZD3, FZD6, FZR1, G6PC1, G6PC3, GAA, GAB3, GABBR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GABRG3, GABRQ, GAD1, GALC, GALE, GALK1, GALM, GALNS, GALNT12, GALNT2, GALNT3, GALT, GAMT, GAN, GARS1, GAS8, GATA2, GATA4, GATA6, GATAD2B, GATB, GATC, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GDF5, GDF6, GDI1, GEMIN4, GEMIN5, GFAP, GFER, GFM1, GFM2, GFPT1, GGT1, GHR, GIGYF1, GIGYF2, GJA1, GJA3, GJA8, GJB1, GJB2, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS3, GLMN, GLRA1, GLRA2, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAI2, GNAI3, GNAL, GNAO1, GNAS, GNB1, GNB2, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GON4L, GORAB, GOSR2, GOT2, GPAA1, GPC3, GPC4, GPD1, GPHN, GPIHBP1, GPR179, GPRASP1, GPSM2, GPT2, GRB14, GRHL3, GRHPR, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM6, GRM7, GRN, GSN, GSPT2, GSS, GSTZ1, GSX2, GTF2E2, GTF2H5, GTF3C3, GTF3C5, GTPBP2, GTPBP3, GTPBP8, GUCY2C, GUF1, GUSB, GYG1, GYS1, GYS2, H1-4, H3-3A, H3-3B, H3-4, H4C11, H4C2, H4C3, H4C4, H4C5, H4C6, H4C9, HAAO, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HARS1, HARS2, HAUS7, HAX1, HCFC1, HCN1, HCCS, HDAC3, HDAC4, HDAC6, HDAC8, HEATR3, HEATR5B, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HID1, HIKESHI, HINT1, HIRA, HIVEP2, HJV, HK1, HLCS, HMBS, HMGB1, HMGB3, HMGCL, HMGCS2, HNF1B, HNF4A, HNMT, HNRNPD, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOGA1, HOXA1, HOXA13, HOXC13, HOXD10, HOXD13, HPD, HPDL, HPGD, HPRT1, HPS1, HPSE2, HR, HRAS, HS2ST1, HS6ST2, HSD17B10, HSD17B4, HSD3B7, HSF4, HSPA9, HSPD1, HSPE1, HSPG2, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYKK, HYLS1, IARS1, IARS2, IBA57, IDH2, IDH3A, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNAR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGHMBP2, IGSF1, IHH, IKBKG, IL11RA, IL1RAPL1, IL1RAPL2, IL3RA, ILF2, IMPDH2, INF2, INPP4A, INPP5E, INPP5K, INPPL1, INSR, INTS1, INTS11, INTS6, INTS6L, INTS8, IPO8, IQSEC1, IQSEC2, IQSEC3, IRAK1, IREB2, IRF2BPL, IRF6, IRX5, ISCA1, ISCA2, ISCU, ITCH, ITFG2, ITGA3, ITGA4, ITGA7, ITGB6, ITIH6, ITM2B, ITPA, ITPR1, ITSN1, IVD, JAG1, JAGN1, JAK3, JAKMIP1, JAM3, JARID2, JMJD1C, JPH3, KANK1, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC3, KCND1, KCND2, KCND3, KCNE1, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ6, KCNK12, KCNK3, KCNK4, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD3, KCTD7, KDM1A, KDM2B, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KHK, KIAA0586, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1C, KIF21A, KIF21B, KIF22, KIF26B, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KIT, KLF1, KLF7, KLF8, KLHL15, KLHL20, KLHL21, KLHL34, KLHL4, KLHL40, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, KYNU, L1CAM, L2HGDH, LACTB, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LARS2, LAS1L, LBR, LCAT, LCT, LDB3, LDHA, LDHD, LDLR, LDLRAP1, LEMD3, LETM1, LFNG, LGI1, LGI3, LGI4, LHFPL3, LHX2, LHX3, LHX4, LIAS, LIG3, LIG4, LIMK1, LINGO1, LINGO4, LINS1, LIPA, LIPC, LIPI, LIPT1, LIPT2, LITAF, LMAN2L, LMBRD1, LMBRD2, LMF1, LMNA, LMNB1, LMNB2, LMX1B, LNPK, LONP1, LOXHD1, LPIN1, LPL, LRAT, LRP1, LRP2, LRP4, LRP5, LRPPRC, LRRC32, LRRK1, LRRK2, LSM7, LSS, LTBP2, LTBP3, LZTFL1, LZTR1, LYRM4, LYRM7, LYST, MAB21L1, MAB21L2, MACC1, MACF1, MADD, MAF, MAFB, MAGEA11, MAGEB1, MAGEB10, MAGEB2, MAGEC1, MAGEC3, MAGED1, MAGEE2, MAGEL2, MAGI2, MAGIX, MAGT1, MAL, MAN1B1, MAN2B1, MAN2B2, MAN2C1, MANBA, MAOA, MAOB, MAP1B, MAP2K1, MAP2K2, MAP3K1, MAP3K15, MAP3K7, MAP7D3, MAPK1, MAPK10, MAPK8IP3, MAPKAPK5, MAPRE2, MAPT, MARS1, MARS2, MASP1, MAST1, MAST3, MAST4, MAT1A, MATN3, MBD5, MBNL3, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM3AP, MCM9, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED11, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEGF10, MEGF8, MEIS2, MESP2, MET, METAP1, METTL23, METTL5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGAT5B, MGME1, MGP, MIB1, MICOS13, MICU1, MICU2, MID1, MIEF2, MINPP1, MIPEP, MIR17HG, MITF, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMGT1, MMP13, MMP21, MMUT, MN1, MNX1, MOCS1, MOCS2, MOGS, MORC2, MORC4, MPC1, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MRAP, MRE11, MRM2, MRPL12, MRPL3, MRPL40, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MRTFB, MSL2, MSL3, MSMO1, MSTO1, MSX1, MSX2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTF1, MTFMT, MTHFD1, MTHFR, MTHFS, MTM1, MTMR1, MTMR14, MTMR2, MTMR8, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTSS2, MTTP, MVK, MXRA5, MYBPC1, MYCN, MYH10, MYH3, MYH6, MYH8, MYH9, MYO1D, MYO1G, MYO1H, MYO5A, MYO5B, MYO7A, MYORG, MYT1, MYT1L, NAA10, NAA15, NAA20, NAA60, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS1, NARS2, NAT8L, NAXD, NAXE, NBAS, NBEA, NBN, NCAPD2, NCAPG2, NCAPH, NCDN, NCKAP1, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NECAB2, NECAP1, NECTIN1, NEDD4L, NEFL, NEK1, NEMF, NEU1, NEUROD2, NEUROG1, NEXMIF, NF1, NFASC, NFIA, NFIB, NFIX, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPA1, NIPBL, NKAP, NKX2-1, NKX2-5, NKX3-2, NKX6-2, NLGN3, NLGN4X, NLRP3, NMNAT1, NNT, NODAL, NOG, NONO, NOP56, NOTCH2, NOTCH3, NOVA2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPR3, NR1I3, NR2F1, NR2F2, NR4A2, NR5A1, NRAS, NRCAM, NRK, NRROS, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NSDHL, NSF, NSRP1, NSUN2, NSUN3, NT5C, NT5C2, NT5C3A, NT5E, NTM, NTNG1, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP107, NUP188, NUP214, NUP62, NUP85, NUS1, NXF4, NXF5, NYX, OAT, OBSL1, OCLN, OCRL, ODAD1, ODAD2, ODAPH, ODC1, ODF2L, OFD1, OGDH, OGDHL, OGT, OPA1, OPA3, OPHN1, OPLAH, OR5M1, ORC1, ORC4, ORC6, OSGEP, OSTC, OTC, OTOGL, OTUD5, OTUD6B, OTUD7A, OTULIN, OTX2, OXA1L, OXCT1, OXR1, P2RY4, P2RY8, P3H1, P4HB, P4HTM, PABPC1, PABPC5, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PALS1, PAM16, PAN2, PANK2, PAPSS2, PARK7, PARN, PARP1, PARP6, PARS2, PASD1, PAX1, PAX2, PAX3, PAX6, PAX7, PAX8, PAX9, PBRM1, PBX1, PC, PCARE, PCBD1, PCBP2, PCCA, PCCB, PCDH10, PCDH12, PCDH19, PCDHGC4, PCGF2, PCK1, PCK2, PCLO, PCNT, PCYT1A, PCYT2, PCSK9, PDCD10, PDCD6IP, PDE10A, PDE12, PDE4D, PDE6D, PDE6G, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PDXK, PDYN, PDZD8, PECR, PEPD, PET100, PET117, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PGRMC1, PHACTR1, PHC1, PHF10, PHF14, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2B, PHYH, PHYKPL, PI4KA, PIBF1, PIDD1, PIEZO2, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3C2A, PIK3C3, PIK3CA, PIK3R1, PIK3R2, PIN4, PINK1, PIP5K1C, PISD, PITRM1, PITX2, PITX3, PJA1, PKD1L1, PKHD1, PLA2G6, PLAA, PLCB1, PLCE1, PLCXD1, PLEC, PLEKHG2, PLK1, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PLXNA1, PLXNA2, PLXNB2, PLXNB3, PMM2, PMP22, PMPCA, PMPCB, PMS2, PNKD, PNKP, PNLIP, PNP, PNPLA2, PNPLA4, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POGLUT1, POGZ, POLA1, POLD1, POLG, POLG2, POLH, POLR1A, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POLR3K, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F2, POU3F3, PPA2, PPFIBP1, PPIL1, PPM1B, PPM1D, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R1B, PPP1R21, PPP1R3F, PPP2CA, PPP2R1A, PPP2R2B, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRDM13, PRDX4, PREPL, PRF1, PRICKLE1, PRICKLE2, PRICKLE3, PRKACB, PRKAG2, PRKAR1A, PRKAR1B, PRKCG, PRKD1, PRKN, PRKRA, PRMT7, PRMT9, PRNP, PRODH, PROP1, PRORP, PROX2, PRPF8, PRPS1, PRR12, PRRG1, PRRG3, PRRT2, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMA7, PSMB8, PSMC3, PSMC5, PSMD10, PSMD12, PSPH, PTCD1, PTCD3, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPA, PTPN11, PTPN21, PTPN23, PTPN4, PTPRZ1, PTRH2, PTRHD1, PTS, PUDP, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, PYGL, PYGM, QARS1, QDPR, QKI, QRICH1, QRSL1, RAB11A, RAB11B, RAB14, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB5C, RAB5IF, RABL6, RAC1, RAC3, RAD21, RAD50, RAD51, RAD51C, RAF1, RAI1, RALA, RALGAPA1, RALGDS, RANBP17, RANBP2, RAP1B, RAP1GDS1, RAPGEF1, RAPSN, RARB, RARS1, RARS2, RASA1, RAX, RBBP5, RBBP8, RBCK1, RBFOX1, RBL2, RBM10, RBM28, RBM8A, RBP4, RBPJ, RBSN, RECQL4, REEP1, REEP2, RELN, RENBP, RERE, RET, RETREG1, RFT1, RFX3, RFX4, RFX6, RFX7, RGN, RGS7, RHEB, RHOBTB2, RIC1, RIMS1, RING1, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF135, RNF168, RNF216, RNF220, RNPC3, RNU2-2P, RNU4-2, RNU4ATAC, RNU7-1, ROBO1, ROBO3, ROGDI, ROR2, RORA, RORB, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPS19, RPS23, RPS6KA3, RRAS, RRM2B, RSPH1, RSPH3, RSPO4, RSPRY1, RSRC1, RTEL1, RTL9, RTN2, RTN4IP1, RTTN, RUBCN, RUNX2, RUSC2, RXYLT1, RYR1, RYR2, RYR3, SACS, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SAR1B, SARDH, SARS1, SARS2, SATB1, SATB2, SBDS, SBF1, SBF2, SC5D, SCAF4, SCAMP5, SCAPER, SCARB1, SCARB2, SCARF2, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCRIB, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SEC23B, SEC31A, SECISBP2, SELENOI, SEMA3E, SEMA6B, SEPHS1, SEPSECS, SERAC1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB2, SETX, SF3B4, SFXN4, SGCA, SGCE, SGPL1, SGSH, SGSM3, SH3PXD2B, SH3TC2, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHOX, SHPK, SHQ1, SHROOM2, SHROOM4, SI, SIAH1, SIGMAR1, SIK1, SIL1, SIN3A, SIN3B, SIX1, SIX3, SIX5, SKI, SKIV2L, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A4, SLC20A2, SLC22A4, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A2, SLC25A20, SLC25A21, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC25A53, SLC25A6, SLC26A2, SLC26A6, SLC26A9, SLC27A4, SLC27A5, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC30A9, SLC31A1, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35B2, SLC35C1, SLC35D1, SLC35F1, SLC36A2, SLC37A4, SLC38A3, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC44A1, SLC45A1, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A6, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A6, SLC9A7, SLC9A9, SLCO1B1, SLCO1B3, SLX4, SMAD3, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCA5, SMARCAL1, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3, SMARCE1, SMC1A, SMC3, SMCHD1, SMG8, SMG9, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNCA, SNF8, SNIP1, SNORD118, SNRPB, SNTG1, SNX14, SNX27, SNX3, SOBP, SON, SOS1, SOS2, SOX10, SOX11, SOX17, SOX2, SOX3, SOX4, SOX5, SOX6, SOX9, SPAG1, SPART, SPAST, SPATA5, SPATA5L1, SPECC1L, SPEG, SPEN, SPG11, SPG21, SPG7, SPOP, SPR, SPRED1, SPRED2, SPRTN, SPRY3, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SRCAP, SRD5A3, SREBF2, SRGAP3, SRP54, SRPK3, SRPX2, SRRM2, SRRT, SRSF1, SRY, SSBP1, SSR3, SSR4, ST3GAL3, ST3GAL5, STAB2, STAG1, STAG2, STAMBP, STAR, STARD8, STAT1, STAT2, STAT5B, STEEP1, STIL, STN1, STRA6, STRADA, STS, STT3A, STT3B, STUB1, STX11, STX1A, STX1B, STX3, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUFU, SUGCT, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SYTL4, SYTL5, SZT2, TAB2, TACO1, TAF1, TAF13, TAF1C, TAF2, TAF4, TAF6, TAF7L, TAF8, TALDO1, TAMM41, TANC2, TANGO2, TAOK1, TARDBP, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D7, TBC1D8B, TBCD, TBCE, TBCK, TBL1XR1, TBP, TBR1, TBX1, TBX15, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCEAL1, TCEAL3, TCF12, TCF20, TCF4, TCF7L2, TCN1, TCN2, TCOF1, TCP10L3, TCTN1, TCTN2, TCTN3, TDO2, TDP2, TECPR2, TECR, TEFM, TEK, TELO2, TENM1, TENM3, TEPSIN, TERT, TET3, TFAM, TFAP2A, TFAP2B, TFB2M, TFE3, TFG, TFR2, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, THOC6, THRA, THRB, THUMPD1, TIAM1, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TKFC, TKT, TKTL1, TLK2, TLR8, TM4SF20, TM6SF2, TMCO1, TMEM106B, TMEM126A, TMEM126B, TMEM132E, TMEM135, TMEM147, TMEM165, TMEM199, TMEM216, TMEM222, TMEM231, TMEM237, TMEM240, TMEM260, TMEM63A, TMEM63B, TMEM63C, TMEM65, TMEM67, TMEM70, TMEM94, TMLHE, TMPRSS6, TMPRSS9, TMTC3, TMX2, TNIK, TNKS2, TNPO2, TNR, TNRC6B, TOE1, TOMM70, TOP3A, TOR1A, TP63, TP73, TPH2, TPK1, TPMT, TPP1, TPP2, TPR, TRA2B, TRAF7, TRAIP, TRAK1, TRAP1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2L, TRAPPC4, TRAPPC6A, TRAPPC6B, TRAPPC9, TREH, TREM2, TREX1, TREX2, TRHR, TRIM32, TRIM37, TRIM8, TRIO, TRIP11, TRIP12, TRIP13, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPC5, TRPM1, TRPM3, TRPM6, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSC22D3, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPAN8, TSPOAP1, TTBK2, TTC19, TTC37, TTC5, TTC7A, TTC8, TTI1, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA8, TUBAL3, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TWNK, TXN2, TXNL4A, TYMP, TYR, TYROBP, TYRP1, U2AF2, UBA5, UBAP2L, UBE2A, UBE2U, UBE3A, UBE3B, UBE3C, UBE4A, UBR1, UBR4, UBR7, UBTF, UFC1, UFM1, UFSP2, UGDH, UGP2, UGT1A1, UMOD, UMPS, UNC13A, UNC13D, UNC80, UPB1, UPF1, UPF3B, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USP18, USP27X, USP7, USP9X, UTP14A, UVSSA, VAMP1, VAMP2, VAMP7, VARS1, VARS2, VCP, VDR, VIP, VIPAS39, VKORC1, VLDLR, VPS11, VPS13B, VPS13C, VPS16, VPS26C, VPS33A, VPS33B, VPS35, VPS35L, VPS41, VPS4A, VPS50, VPS51, VPS53, VRK1, VSX2, WAC, WARS2, WASF1, WASHC4, WASHC5, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR5, WDR62, WDR73, WDR81, WDR83OS, WFS1, WIPI2, WNK3, WNT1, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC3, WWOX, WWTR1, XDH, XIAP, XIST, XK, XKRX, XPA, XPC, XPNPEP3, XPR1, XRCC4, XYLT1, XYLT2, YAP1, YARS1, YARS2, YIF1B, YIPF5, YME1L1, YWHAE, YWHAG, YWHAZ, YY1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB40, ZBTB47, ZBTB7A, ZC3H14, ZC4H2, ZCCHC12, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFHX3, ZFHX4, ZFP57, ZFX, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYM2, ZMYM3, ZMYM6, ZMYND11, ZMYND12, ZMYND8, ZNF142, ZNF148, ZNF292, ZNF335, ZNF407, ZNF41, ZNF425, ZNF462, ZNF526, ZNF592, ZNF599, ZNF668, ZNF674, ZNF699, ZNF711, ZNF713, ZNF81, ZNFX1, ZNRF3, ZSWIM6
Ataxiák panel (493 gén)
Az ataxiák a koordináció és az egyensúlyszabályozás zavarait jelentik, melyek során a mozgás pontosságának és simaságának csökkenése áll fenn. Sokféle kórfolyamatra vezethetők vissza, de az egyik leggyakoribb ok a genetikai eredet.
Gének listája (493 gén):
ARL3, AAAS, AARS1, ABCA2, ABCB7, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALAS2, ALDH5A1, ALG1, ALG10, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARMC9, ARSA, ASL, ATAD3A, ATCAY, ATG7, ATM, ATN1, ATP1A2, ATP1A3, ATP2B3, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, TWNK, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BBS1, BEAN1, BRF1, C1GALT1C1, C2CD3, CPLANE1, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMLG, CAMTA1, CAPN1, CAPRIN1, CASK, CBY1, CC2D2A, CCDC115, CCDC28B, CCDC88C, CDK5, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHP1, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN5, CLN6, CLP1, CLPP, COA7, COASY, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COQ4, COQ8A, COX20, CP, CRB2, CTBP1, CWF19L1, CYP27A1, CYP2U1, CSGALNACT1, CSPP1, CSTB, DAB1, DAG1, DAGLA, DARS2, DCC, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DKC1, DLG4, DMXL2, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DYNC1H1, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EN1, EOGT, EPM2A, ERCC4, EVC, EVC2, EXOC3L2, EXOC8, EXOSC1, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FBXL4, FEM1C, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FRMD4A, FRMD5, FCSK, FUT8, FXN, G6PC3, GALC, GALNT12, GALNT2, GALNT3, GBA2, GDAP2, GEMIN5, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GLS, GMPPA, GMPPB, GNE, GORAB, GOSR2, GPAA1, GRID2, GRM1, GRN, HARS1, HEATR5B, HEXA, HEXB, HMBS, HTT, HYLS1, CILK1, IFT74, INPP5E, INTS11, IRF2BPL, CRPPA, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNK18, KCNN2, KCNQ2, KCNQ3, KATNIP, KIAA0586, KIAA0753, KIF14, KIF1A, KIF1C, KIF7, LAMA1, LARGE1, LARS2, LETM1, LFNG, LIG3, LNPK, MAG, MAGT1, MAN1B1, MAN2B2, MAPK8IP3, MARS2, MFN2, MGAT2, MINPP1, MKS1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTTP, MVK, NAA60, NAGLU, NAXE, NFASC, NGLY1, NHLRC1, NKX2-1, NKX6-2, NMNAT2, NOP56, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, OSTC, PACS2, PAX2, PAX6, PCLO, PDE6D, PDYN, PEX16, PEX2, PEX6, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, POC1B, POLG, POLG2, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PPP2R2B, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RABL2A, RARS2, RELN, RFC1, RFT1, RFXANK, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RUBCN, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCN9A, SCYL1, SEC23B, SEPSECS, SETX, SIL1, SLC17A5, SLC1A3, SLC25A32, SLC25A46, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC6A5, SLC9A1, SLC9A6, SMPD4, SNAP25, SNX14, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, STUB1, SUFU, SVBP, SYNE1, SYNGAP1, SYT14, TANGO2, TAPT1, TBC1D23, TBC1D32, TBP, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TERT, TGM6, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM165, TMEM199, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, RXYLT1, TMEM67, TOE1, TOGARAM1, TPP1, TPR, TRAPPC11, TRIP4, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBR4, UBTF, UCHL1, VAMP1, VLDLR, VPS13B, VPS13D, VPS41, VPS53, VRK1, DNAI3, WDR73, WDR81, WFS1, WWOX, XRCC1, XYLT1, XYLT2, ZFHX3, ZFYVE26, ZNF423, ZNF592, ZSWIM6
Kongenitális miaszténia szindróma panel (36 gén)
A kongenitális miaszténia szindróma egy örökletes neuromuszkuláris rendellenesség, amely a neuromuszkuláris átviteli zavarok következtében izomgyengeséggel és fáradékonysággal jár. A betegség már a születéskor megjelenhet, és tünetei a motoros funkciók csökkenésével, valamint az izomtevékenység gyors kimerülésével társulhatnak, de a megfelelő kezeléssel a betegek életminősége jelentősen javulhat.
Gének listája (36 gén):
AGRN, ALG14, ALG2, CACNA1A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT15, SYT2, TOR1AIP1, UNC13A, VAMP1
Mitokondriális betegségek panel (483 gén)
A mitokondriális betegségek olyan genetikai rendellenességek, amelyek a mitokondriumok működési zavarai (mint például a károsult energia termelés és sejtelhalás szabályozás) miatt alakulnak ki, és gyakran több szervet is érintenek. Leggyakrabban érintett szervek az agy és a vázizomzat, valamint a szívizomzat. Azonban más szervi tüneteik is jelentkezhetnek. Öröklődésük maternális vagy autoszomális is lehet.
Gének listája (483 gén):
AARS2, ABAT, ABCB6, ABCB7, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH18A1, ALDH1B1, ANO10, APOO, COA8, APTX, ATAD3A, ATAD3B, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5PB, ATP5MC1, ATP5MC2, ATP5MC3, ATP5PD, ATP5ME, ATP5PF, ATP5MF, ATP5MG, ATP5MGL, ATP5PO, ATPAF1, ATPAF2, BCS1L, BDH1, BOLA1, BOLA2, BOLA3, BTD, MTRFR, C19orf12, MICOS13, C1QBP, C2orf69, CA5A, CARS2, CEP89, CHCHD10, CHKB, CISD2, CLPB, CLPP, CLPX, COA1, COA3, COA4, COA5, COA6, COA7, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, CPT1A, CPT2, CRAT, CRLS1, CTBP1, CYC1, CYCS, CYP24A1, D2HGDH, DARS1, DARS2, DCC, DGUOK, DHTKD1, DIABLO, DIAPH1, DLAT, DLD, DLST, DMPK, DNA2, DNAJC19, DNM1L, DNM2, DTD1, DYM, EARS2, ECHS1, ECSIT, ELAC2, ERAL1, ERCC6L2, ETFA, ETFB, ETFDH, ETHE1, FA2H, FARS2, FASTKD2, FBP2, FBXL4, FDX2, FDXR, FGF12, FH, FLAD1, FOXRED1, FXN, G6PC1, GARS1, GATB, GATC, GATM, GDAP1, GFER, GFM1, GFM2, GLRX5, GLUD1, GTPBP3, GUF1, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HPDL, HSD17B10, HSPA9, HSPD1, HSPE1, HTRA2, HTT, IARS1, IARS2, IBA57, IDH3A, IDH3B, IER3IP1, ISCA1, ISCA2, ISCU, KARS1, PRORP, KIF5A, L2HGDH, LACTB, LARS1, LARS2, LETM1, LIAS, LIG3, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MICU2, MIEF2, MIPEP, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL40, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTO1, MTPAP, NADK2, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NNT, NSUN3, NUBPL, OGDH, OPA1, OPA3, OXA1L, OXCT1, PAM16, PANK2, PARS2, PC, PCK2, PDE12, PDHA1, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDP1, PDP2, PDPR, PDSS1, PDSS2, PET100, PET117, PITRM1, PLA2G6, PMPCA, PMPCB, PNPLA4, PNPLA8, PNPT1, POLG, POLG2, POLRMT, POP1, PPA2, PPOX, PTCD1, PTCD3, PTRH2, PUS1, PYCR1, QARS1, QRSL1, RARS2, RMND1, RNASEH1, ROBO3, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SECISBP2, SEPSECS, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC33A1, SLC39A8, SLC44A1, SLC52A2, SLC52A3, SPATA5, SPG7, SRRT, SSBP1, STAT2, STXBP1, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TAMM41, TANGO2, TARS2, WWTR1, TEFM, TFAM, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM65, TMEM70, TOMM70, TOP3A, TPK1, TRAK1, TRAP1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, ATP5MK, VARS2, VPS13C, WARS2, WFS1, XPNPEP3, XRCC4, YARS2, YME1L1, YME1L1
Összesített panel (3491 gén)
Gének listája (3491 gén):
A2ML1, AAAS, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA2, ABCB11, ABCB4, ABCB6, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD16A, ABHD5, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACAT2, ACBD5, ACBD6, ACE2, ACER3, ACIN1, ACO2, ACOT9, ACOX1, ACOX2, ACP5, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6A, ACTL6B, ACTN2, ACVR1, ACY1, ACSF3, ACSL4, ADA, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADD1, ADD3, ADGRG1, ADGRG4, ADGRG6, ADGRL1, ADGRV1, ADK, ADNP, ADPRS, ADRA2B, ADSL, ADSS1, AFF2, AFF3, AFF4, AFG3L2, AFP, AGA, AGAP1, AGK, AGL, AGMO, AGO1, AGO2, AGPAT2, AGPAT3, AGPS, AGRN, AGT, AGTPBP1, AGTR2, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIPL1, AIRE, AK1, AK2, AKAP17A, AKAP4, AKAP6, AKR1C2, AKR1D1, AKT1, AKT3, ALAD, ALAS2, ALDH18A1, ALDH1A3, ALDH1B1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG10, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALKBH8, ALMS1, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMER1, AMFR, AMN, AMPD1, AMPD2, AMT, ANG, ANK2, ANK3, ANKH, ANKRD1, ANKRD11, ANKRD17, ANKS6, ANO10, ANO3, ANO4, ANO5, ANTXR1, AOX1, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP2S1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APOO, APP, APRT, APTX, AQP7, AR, ARCN1, ARF1, ARF3, ARFGEF1, ARFGEF2, ARFGEF3, ARG1, ARHGAP31, ARHGAP35, ARHGAP36, ARHGAP6, ARHGEF10, ARHGEF2, ARHGEF4, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARIH1, ARL13B, ARL14EP, ARL3, ARL6, ARL6IP1, ARMC9, ARSA, ARSB, ARSF, ARSG, ARSI, ARSK, ARSL, ARV1, ARX, ASAH1, ASB12, ASCC1, ASCC3, ASCL1, ASH1L, ASL, ASMT, ASMTL, ASNS, ASPA, ASPH, ASPM, ASS1, ASTN1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATAD3B, ATCAY, ATG4D, ATG7, ATIC, ATL1, ATL3, ATM, ATN1, ATP11A, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B1, ATP2B3, ATP2C2, ATP5F1A, ATP5F1B, ATP5F1C, ATP5F1D, ATP5F1E, ATP5MC1, ATP5MC2, ATP5MC3, ATP5ME, ATP5MF, ATP5MG, ATP5MGL, ATP5MK, ATP5PB, ATP5PD, ATP5PF, ATP5PO, ATP6AP1, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATP9A, ATPAF1, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN2L, ATXN3, ATXN3L, ATXN7, ATXN7L3, AUH, AUTS2, AVP, AVPR2, AWAT2, B2M, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BAG3, BAP1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BDH1, BDNF, BDP1, BEAN1, BET1, BFSP2, BGN, BHLHA9, BICD2, BICRA, BIN1, BLM, BLOC1S1, BLTP1, BMP15, BMP4, BMPER, BMPR1B, BOLA1, BOLA2, BOLA3, BORCS8, BPIFB6, BPNT2, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRF1, BRIP1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BTK, BUB1, BUB1B, BVES, C12orf4, C12orf57, C19orf12, C1GALT1C1, C1QBP, C2CD3, C2orf69, C9orf72, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D3, CACNB4, CACNG2, CAD, CADM3, CAMK2A, CAMK2B, CAMK2D, CAMK2G, CAMK4, CAMLG, CAMSAP1, CAMTA1, CANT1, CAP1, CAPN1, CAPN10, CAPN15, CAPN3, CAPRIN1, CAPZA2, CARS1, CARS2, CASK, CASP2, CASQ1, CASQ2, CASR, CAT, CAV3, CAVIN1, CBL, CBLIF, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC115, CCDC174, CCDC186, CCDC22, CCDC28B, CCDC32, CCDC39, CCDC40, CCDC47, CCDC65, CCDC78, CCDC8, CCDC82, CCDC88A, CCDC88C, CCN2, CCNA2, CCNB3, CCND2, CCNO, CCNQ, CCT5, CD320, CD59, CD96, CD99, CDC40, CDC42, CDC42BPB, CDC45, CDC6, CDH11, CDH15, CDH2, CDH23, CDH3, CDK10, CDK13, CDK16, CDK19, CDK5, CDK5R1, CDK5RAP2, CDK8, CDK9, CDKL5, CDKN1C, CDON, CDT1, CELF2, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP295, CEP41, CEP55, CEP57, CEP63, CEP83, CEP85L, CEP89, CERS1, CERT1, CETP, CFAP276, CFAP410, CFAP418, CFAP43, CFAP47, CFL2, CFP, CHAMP1, CHAT, CHCHD10, CHCHD2, CHD1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKA, CHKB, CHL1, CHM, CHMP1A, CHMP2B, CHMP3, CHP1, CHRDL1, CHRM1, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHSY1, CHUK, CIAO1, CIB2, CIC, CILK1, CISD2, CIT, CIZ1, CKAP2L, CLCN1, CLCN2, CLCN3, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN11, CLDN16, CLDN19, CLDN5, CLEC16A, CLIC2, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLPS, CLPX, CLTC, CLTCL1, CMC4, CMIP, CNBP, CNDP1, CNKSR1, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNOT9, CNP, CNPY3, CNTN1, CNTN2, CNTN3, CNTN4, CNTNAP1, CNTNAP2, COA1, COA3, COA4, COA5, COA6, COA7, COA8, COASY, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL18A1, COL1A1, COL1A2, COL25A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A6, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLGALT1, COLQ, COMP, COPB1, COPB2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX16, COX17, COX18, COX19, COX20, COX4I1, COX4I2, COX5A, COX5B, COX6A1, COX6A2, COX6B1, COX6B2, COX6C, COX7A1, COX7A2, COX7B, COX7B2, COX7C, COX8A, CP, CPA6, CPD, CPE, CPLANE1, CPLX1, CPOX, CPS1, CPSF3, CPT1A, CPT1B, CPT1C, CPT2, CPXCR1, CRADD, CRAT, CRB1, CRB2, CRBN, CREB3L3, CREBBP, CRELD1, CRH, CRLF2, CRLS1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CTBP1, CTC1, CTCF, CTDP1, CTH, CTNNA2, CTNNB1, CTNND1, CTNND2, CTNS, CTPS2, CTR9, CTSA, CTSC, CTSD, CTSF, CTSK, CTTNBP2, CTU2, CUBN, CUL3, CUL4B, CUL7, CUX1, CUX2, CWC27, CWF19L1, CXorf58, CYB5R3, CYC1, CYCS, CYFIP2, CYP1B1, CYP24A1, CYP27A1, CYP2C8, CYP2U1, CYP7A1, CYP7B1, CSDE1, CSF1R, CSF2RA, CSGALNACT1, CSNK1G1, CSNK2A1, CSNK2B, CSPP1, CSRP3, CST3, CSTB, CSTF2, D2HGDH, DAB1, DACT1, DAG1, DAGLA, DALRD3, DARS1, DARS2, DBH, DBT, DCAF10, DCAF17, DCAF8, DCC, DCDC2, DCHS1, DCHS2, DCPS, DCTN1, DCX, DCXR, DDB1, DDB2, DDC, DDHD1, DDHD2, DDOST, DDR2, DDX11, DDX23, DDX3X, DDX53, DDX58, DDX59, DDX6, DEAF1, DECR1, DEGS1, DENND5A, DENND5B, DEPDC5, DES, DGKH, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHFR2, DHH, DHODH, DHPS, DHRSX, DHTKD1, DHX16, DHX30, DHX32, DHX37, DHX9, DIABLO, DIAPH1, DIAPH2, DIP2B, DIPK2A, DIS3L2, DKC1, DLAT, DLD, DLG1, DLG2, DLG3, DLG4, DLGAP2, DLL1, DLL3, DLL4, DLST, DMBX1, DMD, DMGDH, DMP1, DMPK, DMXL2, DNA2, DNAAF11, DNAAF3, DNAAF4, DNAH1, DNAH14, DNAI3, DNAJB2, DNAJB4, DNAJB6, DNAJC12, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DOCK11, DOCK3, DOCK4, DOCK6, DOCK7, DOCK8, DOHH, DOK7, DOLK, DONSON, DPAGT1, DPEP1, DPF1, DPF2, DPF3, DPH1, DPH2, DPH5, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DPYSL2, DPYSL5, DRD2, DRD5, DROSHA, DRP2, DSC2, DSCAM, DSG2, DSP, DSPP, DST, DSTYK, DTD1, DTNA, DTYMK, DUX4L1, DVL1, DVL3, DYM, DYNC1H1, DYNC1I2, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DYRK1A, DYSF, EARS2, EBF3, EBP, ECEL1, ECHS1, ECSIT, EDA, EDEM3, EDNRA, EDNRB, EED, EEF1A2, EEF1B2, EEF2, EFHC1, EFNB1, EFTUD2, EGF, EGR2, EHBP1L1, EHHADH, EHMT1, EIF2A, EIF2AK1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EIF4A3, EIF4G1, EIF5A, ELAC2, ELK1, ELN, ELOVL1, ELOVL4, ELOVL5, ELP1, ELP2, EMC1, EMC10, EMD, EMG1, EMILIN1, EML1, EMX2, EN1, EN2, ENO3, ENOX2, ENPP1, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPG5, EPHA7, EPM2A, EPPK1, EPRS1, ERAL1, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERGIC3, ERI1, ERLIN1, ERLIN2, ERMARD, ESAM, ESCO2, ESX1, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC2, EXOC3L2, EXOC7, EXOC8, EXOSC1, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, EXTL3, EYA1, EZH1, EZH2, F5, FA2H, FAAH2, FAH, FAM111A, FAM111B, FAM120C, FAM126A, FAM149B1, FAM161A, FAM177A1, FAM20A, FAM20C, FAM47B, FAM50A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FAR1, FARS2, FARSA, FARSB, FASN, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBP1, FBP2, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO25, FBXO28, FBXO31, FBXO38, FBXO7, FBXO8, FBXW11, FBXW4, FBXW7, FCSK, FDFT1, FDX2, FDXR, FECH, FEM1B, FEM1C, FGA, FGD1, FGD4, FGF10, FGF12, FGF13, FGF14, FGF3, FGFR1, FGFR2, FGFR3, FH, FHIP2A, FHL1, FIBP, FICD, FIG4, FILIP1, FITM2, FKBP14, FKBP6, FKBPL, FKRP, FKTN, FLAD1, FLNA, FLNB, FLNC, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FOLR1, FOLR2, FOLR3, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXN1, FOXP1, FOXP2, FOXP3, FOXP4, FOXR1, FOXRED1, FRA10AC1, FRAS1, FREM1, FREM2, FRMD4A, FRMD5, FRMD7, FRMPD4, FRRS1L, FRY, FRYL, FTCD, FTL, FTO, FTSJ1, FUCA1, FUS, FUT8, FXN, FXR1, FXYD2, FYCO1, FZD3, FZD6, FZR1, G6PC1, G6PC3, GAA, GAB3, GABBR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GABRG3, GABRQ, GAD1, GAL, GALC, GALE, GALK1, GALM, GALNS, GALNT12, GALNT2, GALNT3, GALT, GAMT, GAN, GARS1, GAS8, GATA2, GATA4, GATA6, GATAD1, GATAD2B, GATB, GATC, GATM, GBA, GBA2, GBE1, GBF1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GDAP2, GDF5, GDF6, GDI1, GDNF, GEMIN4, GEMIN5, GFAP, GFER, GFM1, GFM2, GFPT1, GGPS1, GGT1, GHR, GIGYF1, GIGYF2, GIPC1, GJA1, GJA3, GJA8, GJB1, GJB2, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLRA1, GLRA2, GLRB, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAI2, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNB2, GNB4, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GON4L, GORAB, GOSR2, GOT2, GPAA1, GPC3, GPC4, GPD1, GPHN, GPIHBP1, GPR179, GPRASP1, GPSM2, GPT2, GRB14, GRHL3, GRHPR, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GRM6, GRM7, GRN, GSN, GSPT2, GSS, GSTZ1, GSX2, GTF2E2, GTF2H5, GTF3C3, GTF3C5, GTPBP2, GTPBP3, GTPBP8, GUCY2C, GUF1, GUSB, GYG1, GYS1, GYS2, H1-4, H3-3A, H3-3B, H3-4, H4C11, H4C2, H4C3, H4C4, H4C5, H4C6, H4C9, HAAO, HACD1, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HARS1, HARS2, HAUS7, HAX1, HCFC1, HCN1, HCN2, HCCS, HDAC3, HDAC4, HDAC6, HDAC8, HEATR3, HEATR5B, HECTD4, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HID1, HIKESHI, HINT1, HIRA, HIVEP2, HJV, HK1, HLCS, HMBS, HMGB1, HMGB3, HMGCL, HMGCR, HMGCS2, HNF1B, HNF4A, HNMT, HNRNPA1, HNRNPA2B1, HNRNPD, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOGA1, HOXA1, HOXA13, HOXC13, HOXD10, HOXD13, HPCA, HPD, HPDL, HPGD, HPRT1, HPS1, HPSE2, HR, HRAS, HS2ST1, HS6ST2, HSD17B10, HSD17B4, HSD3B7, HSF4, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPE1, HSPG2, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYKK, HYLS1, IARS1, IARS2, IBA57, IDH2, IDH3A, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNAR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGHMBP2, IGSF1, IHH, IKBKG, IL11RA, IL1RAPL1, IL1RAPL2, IL3RA, ILF2, IMPDH2, INF2, INO80, INPP4A, INPP5E, INPP5K, INPPL1, INSR, INTS1, INTS11, INTS6, INTS6L, INTS8, INVS, IPO8, IPPK, IQCB1, IQSEC1, IQSEC2, IQSEC3, IRAK1, IREB2, IRF2BPL, IRF6, IRX5, ISCA1, ISCA2, ISCU, ISG15, ITCH, ITFG2, ITGA3, ITGA4, ITGA7, ITGB6, ITIH6, ITM2B, ITPA, ITPR1, ITPR3, ITSN1, IVD, JAG1, JAG2, JAGN1, JAK3, JAKMIP1, JAM3, JARID2, JMJD1C, JPH2, JPH3, JUP, KANK1, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KAT8, KATNAL2, KATNB1, KATNIP, KBTBD13, KCNA1, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC2, KCNC3, KCND1, KCND2, KCND3, KCNE1, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNJ6, KCNK12, KCNK18, KCNK3, KCNK4, KCNK9, KCNMA1, KCNN2, KCNN3, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD17, KCTD3, KCTD7, KDM1A, KDM2B, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KHK, KIAA0586, KIAA0753, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1C, KIF21A, KIF21B, KIF22, KIF26B, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KIT, KLC2, KLC4, KLF1, KLF7, KLF8, KLHL15, KLHL20, KLHL21, KLHL34, KLHL4, KLHL40, KLHL41, KLHL7, KLHL9, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPNA3, KPTN, KRAS, KRIT1, KY, KYNU, L1CAM, L2HGDH, LACTB, LAMA1, LAMA2, LAMA4, LAMA5, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS1, LARS2, LAS1L, LBR, LCAT, LCT, LDB3, LDHA, LDHD, LDLR, LDLRAP1, LEMD3, LETM1, LFNG, LGI1, LGI3, LGI4, LHFPL3, LHX2, LHX3, LHX4, LIAS, LIG3, LIG4, LIMK1, LIMS2, LINGO1, LINGO4, LINS1, LIPA, LIPC, LIPI, LIPT1, LIPT2, LITAF, LMAN2L, LMBRD1, LMBRD2, LMF1, LMNA, LMNB1, LMNB2, LMOD3, LMX1B, LNPK, LONP1, LOXHD1, LPIN1, LPL, LRAT, LRIF1, LRP1, LRP12, LRP2, LRP4, LRP5, LRPPRC, LRRC32, LRRK1, LRRK2, LRSAM1, LSM7, LSS, LTBP2, LTBP3, LZTFL1, LZTR1, LYRM4, LYRM7, LYST, LYZ, MAB21L1, MAB21L2, MACC1, MACF1, MADD, MAF, MAFB, MAG, MAGEA11, MAGEB1, MAGEB10, MAGEB2, MAGEC1, MAGEC3, MAGED1, MAGEE2, MAGEL2, MAGI2, MAGIX, MAGT1, MAL, MAN1B1, MAN2B1, MAN2B2, MAN2C1, MANBA, MAOA, MAOB, MAP1B, MAP2K1, MAP2K2, MAP3K1, MAP3K15, MAP3K20, MAP3K7, MAP7D3, MAPK1, MAPK10, MAPK8IP3, MAPKAPK5, MAPKBP1, MAPRE2, MAPT, MARS1, MARS2, MASP1, MAST1, MAST3, MAST4, MAT1A, MATN3, MATN4, MATR3, MBD5, MBNL3, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM3AP, MCM9, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED11, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEG3, MEGF10, MEGF8, MEIS2, MESP2, MET, METAP1, METTL23, METTL5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGAT5B, MGME1, MGP, MIB1, MICOS13, MICU1, MICU2, MID1, MIEF2, MINPP1, MIPEP, MIR17HG, MITF, MKKS, MKS1, MLC1, MLH1, MLIP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMGT1, MMP13, MMP21, MMUT, MN1, MNX1, MOCS1, MOCS2, MOGS, MORC2, MORC4, MPC1, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MR1, MRAP, MRE11, MRM2, MRPL12, MRPL3, MRPL40, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MRTFB, MSL2, MSL3, MSMO1, MSTO1, MSX1, MSX2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTCL1, MTF1, MTFMT, MTHFD1, MTHFR, MTHFS, MTM1, MTMR1, MTMR14, MTMR2, MTMR8, MTO1, MTOR, MTPAP, MTR, MTRFR, MTRR, MTSS2, MTTP, MUSK, MVK, MXRA5, MYBPC1, MYBPC3, MYCN, MYF5, MYF6, MYH1, MYH10, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL1, MYL2, MYL3, MYMK, MYO18B, MYO1D, MYO1G, MYO1H, MYO5A, MYO5B, MYO7A, MYO9A, MYO9B, MYOD1, MYORG, MYOT, MYOZ2, MYPN, MYT1, MYT1L, NAA10, NAA15, NAA20, NAA60, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS1, NARS2, NAT8L, NAXD, NAXE, NBAS, NBEA, NBN, NCAPD2, NCAPG2, NCAPH, NCDN, NCKAP1, NDC1, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA3, NDUFA4, NDUFA5, NDUFA6, NDUFA7, NDUFA8, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFAF8, NDUFB1, NDUFB10, NDUFB11, NDUFB2, NDUFB3, NDUFB4, NDUFB5, NDUFB6, NDUFB7, NDUFB8, NDUFB9, NDUFC1, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEBL, NECAB2, NECAP1, NECTIN1, NEDD4L, NEFH, NEFL, NEK1, NEK8, NEMF, NEU1, NEUROD2, NEUROG1, NEXMIF, NEXN, NF1, NFASC, NFIA, NFIB, NFIX, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NID1, NIPA1, NIPBL, NKAP, NKX2-1, NKX2-5, NKX3-2, NKX6-2, NLGN3, NLGN4X, NLRP3, NMNAT1, NMNAT2, NNT, NODAL, NOG, NONO, NOP56, NOTCH2, NOTCH3, NOVA2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NPR3, NPRL2, NPRL3, NPTX1, NR1I3, NR2F1, NR2F2, NR4A2, NR5A1, NRAS, NRCAM, NRK, NRROS, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NSDHL, NSF, NSRP1, NSUN2, NSUN3, NT5C, NT5C2, NT5C3A, NT5E, NTM, NTNG1, NTNG2, NTRK1, NTRK2, NUBPL, NUDT2, NUP107, NUP188, NUP214, NUP54, NUP62, NUP85, NUS1, NXF4, NXF5, NYX, OAT, OBSCN, OBSL1, OCLN, OCRL, ODAD1, ODAD2, ODAPH, ODC1, ODF2L, OFD1, OGDH, OGDHL, OGT, OPA1, OPA3, OPHN1, OPLAH, OPTN, OR5M1, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSTC, OTC, OTOGL, OTUD5, OTUD6B, OTUD7A, OTULIN, OTX2, OXA1L, OXCT1, OXR1, P2RY4, P2RY8, P3H1, P4HB, P4HTM, PABPC1, PABPC5, PABPN1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PALS1, PAM16, PAN2, PANK2, PAPSS2, PARK7, PARN, PARP1, PARP6, PARS2, PASD1, PAX1, PAX2, PAX3, PAX6, PAX7, PAX8, PAX9, PBRM1, PBX1, PC, PCARE, PCBD1, PCBP2, PCCA, PCCB, PCDH10, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCGF2, PCK1, PCK2, PCLO, PCNT, PCYT1A, PCYT2, PCSK9, PDCD10, PDCD6IP, PDE10A, PDE12, PDE2A, PDE4D, PDE6D, PDE6G, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK1, PDK2, PDK3, PDK4, PDLIM3, PDP1, PDP2, PDPR, PDSS1, PDSS2, PDX1, PDXK, PDYN, PDZD8, PECR, PEPD, PET100, PET117, PEX1, PEX10, PEX11A, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM2L1, PGM3, PGRMC1, PHACTR1, PHC1, PHF10, PHF14, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2B, PHYH, PHYKPL, PI4KA, PIBF1, PIDD1, PIEZO2, PIGA, PIGB, PIGC, PIGF, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3C2A, PIK3C3, PIK3CA, PIK3R1, PIK3R2, PIK3R5, PIN4, PINK1, PIP5K1C, PISD, PITRM1, PITX2, PITX3, PJA1, PKD1, PKD1L1, PKD2, PKHD1, PKP2, PLA2G6, PLAA, PLCB1, PLCE1, PLCXD1, PLEC, PLEKHG2, PLEKHG5, PLK1, PLK4, PLN, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PLXNA1, PLXNA2, PLXNB2, PLXNB3, PMM2, PMP2, PMP22, PMPCA, PMPCB, PMS2, PNKD, PNKP, PNLIP, PNP, PNPLA2, PNPLA4, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POGLUT1, POGZ, POLA1, POLD1, POLG, POLG2, POLH, POLR1A, POLR1C, POLR1D, POLR2A, POLR3A, POLR3B, POLR3K, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, POPDC3, POR, PORCN, POU1F1, POU3F2, POU3F3, POU4F1, PPA2, PPFIBP1, PPIL1, PPM1B, PPM1D, PPM1K, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R1B, PPP1R21, PPP1R3F, PPP2CA, PPP2R1A, PPP2R2B, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PRDM13, PRDM8, PRDX3, PRDX4, PREPL, PRF1, PRICKLE1, PRICKLE2, PRICKLE3, PRKACB, PRKAG2, PRKAR1A, PRKAR1B, PRKCG, PRKD1, PRKN, PRKRA, PRMT7, PRMT9, PRNP, PRODH, PROP1, PRORP, PROX2, PRPF8, PRPS1, PRR12, PRRG1, PRRG3, PRRT2, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSMA7, PSMB8, PSMC3, PSMC5, PSMD10, PSMD12, PSPH, PTCD1, PTCD3, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPA, PTPN11, PTPN21, PTPN23, PTPN4, PTPRZ1, PTRH2, PTRHD1, PTS, PUDP, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS1, QDPR, QKI, QRICH1, QRSL1, RAB11A, RAB11B, RAB14, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB5C, RAB5IF, RAB7A, RABL2A, RABL6, RAC1, RAC3, RAD21, RAD50, RAD51, RAD51C, RAF1, RAI1, RALA, RALGAPA1, RALGAPB, RALGDS, RANBP17, RANBP2, RAP1B, RAP1GDS1, RAPGEF1, RAPSN, RARB, RARS1, RARS2, RASA1, RAX, RBBP5, RBBP8, RBCK1, RBFOX1, RBL2, RBM10, RBM20, RBM28, RBM8A, RBP4, RBPJ, RBSN, RECQL4, REEP1, REEP2, RELN, RENBP, RERE, RET, RETREG1, RFC1, RFT1, RFX3, RFX4, RFX6, RFX7, RFXANK, RGN, RGS7, RHEB, RHOB, RHOBTB2, RIC1, RIMS1, RING1, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, RNF135, RNF168, RNF170, RNF2, RNF216, RNF220, RNPC3, RNU2-2P, RNU4-2, RNU4ATAC, RNU7-1, ROBO1, ROBO3, ROGDI, ROR2, RORA, RORB, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPS19, RPS23, RPS6KA3, RRAS, RRM2B, RSPH1, RSPH3, RSPO4, RSPRY1, RSRC1, RTEL1, RTL9, RTN2, RTN4IP1, RTTN, RUBCN, RUNX2, RUSC2, RXYLT1, RYR1, RYR2, RYR3, SACS, SALL1, SALL4, SAMD12, SAMD9, SAMD9L, SAMHD1, SAR1B, SARDH, SARS1, SARS2, SATB1, SATB2, SBDS, SBF1, SBF2, SC5D, SCAF4, SCAMP5, SCAPER, SCARB1, SCARB2, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SCRIB, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHAF3, SDHAF4, SDHB, SDHC, SDHD, SEC23B, SEC24D, SEC31A, SECISBP2, SELENOI, SELENON, SEMA3E, SEMA6B, SEPHS1, SEPSECS, SEPTIN9, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SETDB2, SETX, SF3B4, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGO1, SGPL1, SGSH, SGSM3, SH3PXD2B, SH3TC2, SHANK1, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SHOX, SHPK, SHQ1, SHROOM2, SHROOM4, SI, SIAH1, SIGMAR1, SIK1, SIL1, SIN3A, SIN3B, SIX1, SIX3, SIX5, SKI, SKIV2L, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A12, SLC22A4, SLC22A5, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A2, SLC25A20, SLC25A21, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A40, SLC25A42, SLC25A46, SLC25A53, SLC25A6, SLC26A2, SLC26A6, SLC26A9, SLC27A4, SLC27A5, SLC2A1, SLC2A10, SLC2A2, SLC2A9, SLC30A10, SLC30A9, SLC31A1, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35B2, SLC35C1, SLC35D1, SLC35F1, SLC36A2, SLC37A4, SLC38A3, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC41A1, SLC44A1, SLC45A1, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A6, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A6OS, SLC7A7, SLC7A9, SLC9A1, SLC9A6, SLC9A7, SLC9A9, SLCO1B1, SLCO1B3, SLX4, SMAD3, SMAD4, SMARCA1, SMARCA2, SMARCA4, SMARCA5, SMARCAL1, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3, SMARCE1, SMC1A, SMC3, SMCHD1, SMG8, SMG9, SMN1, SMO, SMOC1, SMPD1, SMPD4, SMPX, SMS, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNF8, SNIP1, SNORD118, SNRPB, SNRPN, SNTG1, SNX14, SNX27, SNX3, SOBP, SOD1, SON, SORD, SOS1, SOS2, SOX10, SOX11, SOX17, SOX2, SOX3, SOX4, SOX5, SOX6, SOX9, SPAG1, SPART, SPAST, SPATA5, SPATA5L1, SPECC1L, SPEG, SPEN, SPG11, SPG21, SPG7, SPOP, SPR, SPRED1, SPRED2, SPRTN, SPRY3, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SPTSSA, SQSTM1, SRCAP, SRD5A3, SREBF2, SRGAP3, SRP54, SRPK3, SRPX2, SRRM2, SRRT, SRSF1, SRY, SSBP1, SSR3, SSR4, ST3GAL3, ST3GAL5, STAB2, STAC3, STAG1, STAG2, STAMBP, STAR, STARD7, STARD8, STAT1, STAT2, STAT5B, STEEP1, STIL, STIM1, STIM2, STN1, STRA6, STRADA, STS, STT3A, STT3B, STUB1, STX11, STX1A, STX1B, STX3, STXBP1, SUCLA2, SUCLG1, SUCLG2, SUFU, SUGCT, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SVIL, SYN1, SYNCRIP, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SYT15, SYT2, SYTL4, SYTL5, SZT2, TAB2, TACO1, TAF1, TAF13, TAF1C, TAF2, TAF4, TAF6, TAF7L, TAF8, TALDO1, TAMM41, TANC2, TANGO2, TAOK1, TAPT1, TARDBP, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBC1D32, TBC1D7, TBC1D8B, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TBX15, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCAP, TCEAL1, TCEAL3, TCF12, TCF20, TCF4, TCF7L2, TCN1, TCN2, TCOF1, TCP10L3, TCTN1, TCTN2, TCTN3, TDO2, TDP1, TDP2, TECPR2, TECR, TEFM, TEK, TELO2, TENM1, TENM3, TEPSIN, TERT, TET3, TFAM, TFAP2A, TFAP2B, TFB2M, TFE3, TFG, TFR2, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THG1L, THOC2, THOC6, THRA, THRB, THUMPD1, TIA1, TIAM1, TIMM22, TIMM44, TIMM50, TIMM8A, TIMMDC1, TINF2, TK2, TKFC, TKT, TKTL1, TLK2, TLR8, TM4SF20, TM6SF2, TMCO1, TMEM106B, TMEM107, TMEM126A, TMEM126B, TMEM132E, TMEM135, TMEM138, TMEM147, TMEM151A, TMEM165, TMEM199, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM260, TMEM43, TMEM63A, TMEM63B, TMEM63C, TMEM65, TMEM67, TMEM70, TMEM94, TMLHE, TMPRSS6, TMPRSS9, TMTC3, TMX2, TNIK, TNK2, TNKS2, TNNC1, TNNC2, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO2, TNPO3, TNR, TNRC6B, TOE1, TOGARAM1, TOMM70, TOP3A, TOR1A, TOR1AIP1, TP63, TP73, TPH2, TPK1, TPM1, TPM2, TPM3, TPMT, TPP1, TPP2, TPR, TRA2B, TRAF3IP1, TRAF7, TRAIP, TRAK1, TRAP1, TRAPPC10, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2L, TRAPPC4, TRAPPC6A, TRAPPC6B, TRAPPC9, TRDN, TREH, TREM2, TREX1, TREX2, TRHR, TRIM2, TRIM32, TRIM37, TRIM8, TRIO, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPC5, TRPM1, TRPM3, TRPM6, TRPS1, TRPV4, TRRAP, TSC1, TSC2, TSC22D3, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPAN8, TSPOAP1, TTBK2, TTC19, TTC21B, TTC37, TTC5, TTC7A, TTC8, TTI1, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA3E, TUBA4A, TUBA8, TUBAL3, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TWNK, TXN2, TXNDC15, TXNL4A, TXNRD1, TYMP, TYR, TYROBP, TYRP1, U2AF2, UBA1, UBA5, UBAP1, UBAP2L, UBE2A, UBE2U, UBE3A, UBE3B, UBE3C, UBE4A, UBQLN1, UBQLN2, UBR1, UBR4, UBR7, UBTF, UCHL1, UFC1, UFM1, UFSP2, UGDH, UGP2, UGT1A1, UMOD, UMPS, UNC13A, UNC13B, UNC13D, UNC45B, UNC80, UPB1, UPF1, UPF3B, UQCC1, UQCC2, UQCC3, UQCR10, UQCR11, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRH, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USP18, USP27X, USP7, USP8, USP9X, UTP14A, UVSSA, VAC14, VAMP1, VAMP2, VAMP7, VAPB, VARS1, VARS2, VCL, VCP, VDR, VEGFA, VIP, VIPAS39, VKORC1, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS13D, VPS16, VPS26C, VPS33A, VPS33B, VPS35, VPS35L, VPS37A, VPS41, VPS4A, VPS50, VPS51, VPS53, VRK1, VSX2, VWA1, WAC, WARS1, WARS2, WASF1, WASHC4, WASHC5, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR35, WDR37, WDR4, WDR45, WDR45B, WDR48, WDR5, WDR62, WDR73, WDR81, WDR83OS, WFS1, WIPI2, WNK1, WNK3, WNT1, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC3, WWOX, WWTR1, XDH, XIAP, XIST, XK, XKRX, XPA, XPC, XPNPEP3, XPR1, XRCC1, XRCC4, XYLT1, XYLT2, YAP1, YARS1, YARS2, YIF1B, YIPF5, YME1L1, YWHAE, YWHAG, YWHAZ, YY1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZBTB40, ZBTB47, ZBTB7A, ZC3H14, ZC4H2, ZCCHC12, ZCCHC8, ZDHHC15, ZDHHC9, ZEB2, ZFHX3, ZFHX4, ZFP57, ZFX, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZMIZ1, ZMPSTE24, ZMYM2, ZMYM3, ZMYM6, ZMYND11, ZMYND12, ZMYND8, ZNF142, ZNF148, ZNF292, ZNF335, ZNF407, ZNF41, ZNF423, ZNF425, ZNF462, ZNF526, ZNF592, ZNF599, ZNF668, ZNF674, ZNF699, ZNF711, ZNF713, ZNF81, ZNFX1, ZNRF3, ZSWIM6
Parkinson szindrómák panel (64 gén)
A Parkinson-szindrómák olyan neurológiai rendellenességek csoportját jelentik, amelyek a dopamin termelő vagy felvevő neuronok zavaraival járnak, és a mozgás koordinációjának zavarát okozzák. A leggyakoribb tünetek közé tartozik a tremor (remegés), a fokozott izommerevség, a lassú mozgás (bradikinézia) és az egyensúlyi problémák. Egyes betegségtípusokban azonban kognitiv és viselkedési problémák is jelentkezhetnek.
Gének listája (64 gén):
ANO3, ARSA, ATN1, ATP13A2, ATP1A3, ATP6AP2, ATXN1, ATXN2, ATXN3, C19orf12, C9orf72, C9orf72, CHCHD2, COASY, CSF1R, DCTN1, DNAJC6, EIF4G1, FA2H, FBXO7, FTL, GBA, GCH1, GIGYF2, GNAL, GRN, HTRA2, HTT, HTT, IPPK, JPH3, JPH3, LRRK2, LYST, MAPT, NR4A2, OPA3, PANK2, PARK7, PDGFB, PINK1, PLA2G6, PPP2R2B, PPP2R2B, PRKN, PRKRA, PTRHD1, RAB39B, SGCE, SLC30A10, SLC39A14, SLC41A1, SLC6A3, SNCA, SNCAIP, SPG11, SPR, SYNJ1, TAF1, TBP, TBP, TH, THAP1, TOR1A, TUBB4A, UCHL1, VPS13A, VPS35, WDR45
Epilepsziák panel (837 gén)
Az epilepszia az agyi idegsejtek rohamokban jelentkező, fokozott elektromos aktivitásával járó betegség. A rohamok különböző formákat ölthetnek: izolált tudati vagy mozgászavarral járó, vagy kiterjedtebb tónusos-klónusos izomgörcsökkel és eszméletvesztéssel járó rosszullétek is lehetnek. Genetikai formái gyakran az élet korai fázisában jelentkeznek, és nem ritkán kognitiv fejlődési zavarokkal is társulnak.
Gének listája (837 gén):
AARS1, AARS2, ABAT, ABCA2, ACOX1, ACTL6B, ADAM22, ADAR, ADARB1, ADAT3, ADD1, ADGRG1, ADGRL1, ADGRV1, ADPRS, ADRA2B, ADSL, AFF3, AGMO, AGO1, AIMP1, AIMP2, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMPD2, AMT, ANK2, ANKRD11, ANO4, AP1G1, AP2M1, AP3B2, APC2, ARF1, ARF3, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASTN1, ASXL3, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2B1, ATP5F1A, ATP5PO, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP6V1A, ATP7A, ATRX, BAP1, BCKDHA, BCKDHB, BCORL1, BCS1L, BET1, BLOC1S1, BLTP1, BOLA3, BORCS8, BRAF, BRAT1, BSCL2, BTD, C12orf57, C2orf69, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2D, CAMK2G, CAMLG, CAMSAP1, CAPRIN1, CARS2, CASK, CASR, CBL, CC2D2A, CCDC186, CCDC88A, CCDC88C, CCND2, CDC42BPB, CDK19, CDKL5, CELF2, CEP85L, CERS1, CERT1, CHD2, CHD4, CHD5, CHKA, CHMP3, CHRM1, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN3, CLCN4, CLCN6, CLDN5, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNOT9, CNPY3, CNTN2, CNTNAP2, COG3, COG4, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ4, COQ6, COQ9, COX10, COX11, COX15, CPA6, CPLX1, CPSF3, CREBBP, CRELD1, CRH, CRPPA, CTNNA2, CTSD, CTSF, CTU2, CUL3, CUL4B, CUX1, CUX2, CYFIP2, CYP27A1, CSNK1G1, CSNK2A1, CSNK2B, CSTB, D2HGDH, DALRD3, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DENND5B, DEPDC5, DHCR24, DHCR7, DHDDS, DHPS, DHX16, DHX30, DIAPH1, DLL1, DMBX1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPH5, DPM1, DPM2, DPYD, DROSHA, DTYMK, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2A, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A2, EMC10, EML1, EMX2, ENTPD1, EPG5, EPM2A, ESAM, ETHE1, EXOC7, EXOSC3, EXT2, FAM50A, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FCSK, FDFT1, FGF12, FGF13, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRMD5, FRRS1L, FTL, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GALC, GALNT2, GAMT, GATAD2B, GATM, GBA, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLRA1, GLRA2, GLRB, GLS, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB2, GNB5, GOSR2, GOT2, GPAA1, GPHN, GRIA2, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUF1, H3-3A, H3-3B, HACE1, HAX1, HCFC1, HCN1, HCN2, HCCS, HEATR5B, HECTD4, HECW2, HEPACAM, HERC2, HEXA, HEXB, HID1, HLCS, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPDL, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, IDH2, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ITPA, JAKMIP1, KARS1, KAT5, KAT8, KATNB1, KCNA1, KCNA2, KCNA3, KCNB1, KCNB2, KCNC1, KCNC2, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM6B, KIF1A, KIF2A, KIF5C, KIFBP, KLHL20, KMT2E, KMT5B, KPTN, KRAS, LARGE1, LARS1, LETM1, LGI1, LIAS, LIPT1, LIPT2, LMAN2L, LMBRD2, LMNB1, LMNB2, LNPK, LSS, LYST, MACF1, MADD, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MAST1, MAST3, MAST4, MATN4, MBD5, MBOAT7, MCM3AP, MDH2, MECP2, MED11, MED12, MED17, MED27, MEF2C, MFF, MFSD8, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MT-CO3, MT-TL1, MTHFR, MTHFS, MTOR, MTR, MYO1H, NACC1, NAGA, NAPB, NARS1, NARS2, NBEA, NCDN, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEUROD2, NEXMIF, NGLY1, NHLRC1, NID1, NPRL2, NPRL3, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSF, NSRP1, NTRK2, NUBPL, NUP214, NUS1, OCLN, OGDHL, OPHN1, OTUD6B, OTUD7A, OTX2, OXR1, P4HTM, PABPC1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARP6, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCDHGC4, PCLO, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX19, PEX2, PEX3, PEX5, PEX6, PEX7, PGM2L1, PHACTR1, PHGDH, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGW, PIK3CA, PIK3R2, PIP5K1C, PLA2G6, PLAA, PLCB1, PLK1, PLPBP, PLXNA1, PMM2, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POMGNT1, POMT1, POMT2, PPFIBP1, PPIL1, PPP1R3F, PPP2CA, PPP3CA, PPT1, PRDM8, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPF8, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCD3, PTCH1, PTEN, PTF1A, PTPN23, PTS, PUM1, PURA, QARS1, QDPR, RAB11A, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RAB5C, RAC3, RALA, RALGAPA1, RALGAPB, RANBP2, RARS1, RARS2, RELN, RFT1, RHEB, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF2, RNU2-2P, RNU4-2, RNU4ATAC, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR2, RYR3, SAMD12, SAMHD1, SARS1, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEC24D, SEC31A, SEMA6B, SEPSECS, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SHH, SHQ1, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC2A1, SLC31A1, SLC32A1, SLC35A1, SLC35A2, SLC35A3, SLC38A3, SLC39A8, SLC45A1, SLC5A6, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNF8, SNIP1, SNORD118, SNX27, SPATA5, SPATA5L1, SPR, SPTAN1, SPTBN1, SPTBN4, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STARD7, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, SYN1, SYNCRIP, SYNGAP1, SYNJ1, SZT2, TAF8, TANC2, TANGO2, TBC1D20, TBC1D24, TBC1D2B, TBCD, TBCK, TBL1XR1, TCF4, TDP2, TEFM, TELO2, TET3, TFE3, TGIF1, TIAM1, TIMM50, TMEM106B, TMEM222, TMEM63B, TMEM70, TMX2, TNK2, TNPO2, TPP1, TRA2B, TRAF7, TRAK1, TRAPPC12, TRAPPC4, TRAPPC6B, TREX1, TRIM8, TRIP13, TRIT1, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TXN2, TXNRD1, U2AF2, UBA5, UBAP2L, UBE2A, UBE3A, UBR7, UFC1, UFM1, UFSP2, UGDH, UGP2, UNC13B, UNC80, USP18, USP7, VAMP2, VARS1, VLDLR, VPS11, VPS50, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WNK3, WWOX, XK, YIF1B, YIPF5, YWHAG, ZBTB18, ZBTB47, ZDHHC9, ZEB2, ZIC2, ZMIZ1, ZMYM2, ZNF142, ZNF335, ZNFX1
Amiotrófiás laterálszklerózis, herediter spasztikus paraplegia és egyéb motoneuron betegségek panel (195 gén)
Az amiotrófiás laterálszklerózis (ALS) egy progresszív neurodegeneratív betegség, amely az agyi és gerincvelői motoneuronok fokozatos pusztulásával jár. Különböző izomcsoportok bénulása lép fel, beleértve a végtagok, nyelés, beszéd és légzőfukciók izmait is. A herediter spasztikus paraplegia hátterében a központi idegrendszer motoneuronjainak károsodása áll, és alsóvégtagi izommerevség, valamint gyengeség tüneteivel jelentkezik. Más motoneuron betegségek hasonló tüneteket mutathatnak, de eltérő kórlefolyásúak és genetikai hátterűek lehetnek.
Gének listája (195 gén):
ABCD1, ABHD16A, ACBD6, ACER3, ADAR, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALK, ALS2, AMFR, AMPD2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, AR, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, B4GALNT1, BCAS3, BICD2, BLOC1S1, BORCS8, BSCL2, C19orf12, C9orf72, CACNA1A, CAPN1, CCDC82, CCT5, CDK16, CHCHD10, CHMP2B, CHMP3, CHP1, CLDN11, COQ4, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DCTN1, DDHD1, DDHD2, DDX3X, DSTYK, ELOVL1, ENTPD1, ERBB4, ERLIN1, ERLIN2, EXOSC3, FA2H, FAR1, FARS2, FBXO7, FIG4, FUS, FXN, GAD1, GALC, GBA2, GBE1, GCH1, GJA1, GJC2, GLRX5, GPT2, GRN, HACE1, HECTD4, HFE, HIKESHI, HMBS, HNRNPA1, HPDL, HSPD1, HTT, IBA57, IFIH1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KPNA3, L1CAM, LETM1, LYST, MAG, MAPK8IP3, MARS1, MARS2, MTPAP, MTRFR, NDUFA12, NEFH, NEK1, NIPA1, NKX6-2, NOP56, NRCAM, NSRP1, NT5C2, OPA3, OPTN, PCDH12, PCYT2, PFN1, PGAP1, PI4KA, PLP1, PNPLA6, POLR3A, POLR3K, PPFIBP1, PPP2R2B, PRNP, PSEN1, RAB3GAP2, REEP1, REEP2, RETREG1, RHOB, RNASEH2B, RNF170, RNU7-1, RTN2, SACS, SARS2, SERAC1, SETX, SIGMAR1, SLC16A2, SLC1A4, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC52A1, SLC52A2, SLC52A3, SOD1, SPART, SPAST, SPATA5L1, SPG11, SPG21, SPG7, SPTAN1, SPTSSA, STN1, TAF8, TARDBP, TBK1, TBP, TECPR2, TFG, TMEM63C, TUBA4A, TUBB4A, UBAP1, UBQLN2, UCHL1, UNC13A, USP8, VAMP1, VAPB, VCP, VEGFA, VPS37A, WASHC5, WDR45B, WDR48, ZEB2, ZFYVE26, ZFYVE27
Örökletes neuropátia + fájdalom panel (314 gén)
Az örökletes neuropátia olyan genetikai rendellenesség, amely a perifériás idegek károsodását okozza, és különböző tünetekkel, például izomgyengeséggel és érzészavarokkal járhat. Sok esetben a betegséghez fájdalom is társul, amely lehet akut vagy krónikus jellegű, és jelentősen rontja a betegek életminőségét, mivel a fájdalom kezelése gyakran nehézkes és komplex feladat.
Gének listája (314 gén):
AARS1, ABCA1, ABCC9, ABHD12, ACOX1, ACTC1, ACTN2, AGTPBP1, AGXT, AIFM1, ALDH3A2, ANKRD1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARL6IP1, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BRAF, BSCL2, C19orf12, CACNB4, CADM3, CASQ2, CAV3, CCT5, CD59, CFAP276, CHCHD10, CLTCL1, CNTNAP1, COA7, COQ7, COQ8A, COX20, COX6A1, CPOX, CRYAB, CTDP1, CYP27A1, CSRP3, DARS2, DCAF8, DCTN1, DEGS1, DES, DGUOK, DHH, DHTKD1, DHX9, DMD, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DSC2, DSG2, DSP, DST, DSTYK, DTNA, DYNC1H1, EGR2, ELP1, EMD, EMILIN1, ERBB3, ERCC6, ERCC8, ETFDH, FA2H, FAH, FAM126A, FBLN5, FBXO38, FGD4, FGF14, FIG4, FKTN, FLVCR1, FXN, GAA, GALC, GAN, GARS1, GATAD1, GBA2, GBF1, GDAP1, GJB1, GJC2, GLA, GLE1, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR1, ITPR3, JAG1, JPH2, JUP, KARS1, KCNA1, KCNA2, KCNC3, KIF1A, KIF1B, KIF5A, KLC2, KRAS, L1CAM, LAMA4, LAMP2, LAS1L, LDB3, LITAF, LMNA, LRP12, LRSAM1, LYST, MAG, MAP2K1, MAP2K2, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MRE11, MT-ATP6, MT-RNR1, MT-TL1, MTMR2, MTRFR, MTTP, MYBPC3, MYH14, MYH6, MYH7, MYL2, MYL3, MYO9B, MYOZ2, MYPN, NAGA, NAGLU, NDC1, NDRG1, NEBL, NEFH, NEFL, NEMF, NEXN, NGF, NIPA1, NRAS, NTRK1, NUDT2, OPA1, OPA3, PCYT2, PDHA1, PDK3, PDLIM3, PDXK, PDYN, PEX10, PEX7, PHYH, PIGB, PKP2, PLEKHG5, PLN, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPOX, PRDM12, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PSMC3, PTEN, PTPN11, PTRH2, RAB7A, RAF1, RBM20, REEP1, RETREG1, RFC1, RIT1, RTN2, RYR2, SACS, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN5A, SCN9A, SCO2, SCP2, SCYL1, SELENOI, SEPTIN9, SETX, SGCD, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC1A3, SLC25A19, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMN1, SORD, SOS1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TCAP, TDP1, TECPR2, TFG, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRIM2, TRPA1, TRPV4, TTBK2, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UBA5, VAPB, VCL, VCP, VPS13A, VRK1, VWA1, WARS1, WASHC5, WNK1, WWTR1, XK, XPA, XRCC1, YARS1, ZFYVE26, ZFYVE27
Izom disztrófiák, miopátiák és egyéb izombetegségek panel (327 gén)
Az izomdisztrófiák olyan genetikai rendellenességek, amelyek az izomrostok fokozatos gyengülésével és elhalásával járnak, ami izomgyengeséget és funkcionális károsodást okoz. Ezen kívül a miopátiák, amelyek különböző okokból, például gyulladások, anyagcsere-rendellenességek vagy toxikus hatások következtében alakulnak ki, szintén izomgyengeséget eredményezhetnek, míg más izombetegségek különböző tüneteket és kórlefolyásokat mutathatnak, amelyek befolyásolják a betegek életminőségét.
Gének listája (327 gén):
AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTA2, ACTG2, ACTN2, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, ALS2, AMPD1, ANO5, AR, ASAH1, ASCC1, ASCC3, ATP2A1, ATP7A, ATRX, B3GALNT2, B4GAT1, BAG3, BET1, BICD2, BIN1, BSCL2, BVES, CACNA1A, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CLCN1, CLMP, CNBP, CNTN1, COG7, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COQ4, COQ8A, COX6A2, CPT1B, CPT2, CRPPA, CRYAB, CYP2C8, DAG1, DCTN1, DES, DGUOK, DHX16, DMD, DMPK, DNAJB2, DNAJB4, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DTNA, DUX4L1, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, EVC2, EXOSC3, EXOSC8, FAM111B, FBP2, FBXO38, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FXR1, GAA, GARS1, GBE1, GDNF, GFER, GFPT1, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB3, HSPB8, HTRA2, IDS, IGHMBP2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KLHL40, KLHL41, KLHL9, KY, L1CAM, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LETM1, LGI4, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP4, MAP3K20, MATR3, MEG3, MEGF10, MICU1, MLIP, MSTO1, MT-CO1, MT-CO2, MT-TK, MT-TL1, MTM1, MTMR14, MUSK, MYBPC1, MYBPC3, MYF5, MYF6, MYH1, MYH11, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NEB, NEFL, OBSCN, ORAI1, PABPN1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG1, PIEZO2, PLEC, PLEKHG5, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPA2, PREPL, PRKAG2, PTEN, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, REEP1, RET, RRM2B, RXYLT1, RYR1, RYR3, SAMD9, SCN11A, SCN4A, SELENON, SETX, SGCA, SGCB, SGCD, SGCG, SGO1, SIGMAR1, SIL1, SLC18A3, SLC22A12, SLC22A5, SLC25A1, SLC25A4, SLC25A42, SLC2A9, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SMN1, SMO, SMPX, SNAP25, SNRPN, SOX10, SPEG, SPG11, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, STIM2, SUCLA2, SVIL, SYNE1, SYNE2, SYT15, SYT2, TAMM41, TANGO2, TCAP, TIA1, TK2, TMEM43, TMEM70, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM32, TRIP4, TRPV4, TSEN54, TSFM, TTC7A, TTN, TYMP, UBA1, UBQLN1, UNC13A, UNC45B, VAMP1, VAPB, VCP, VMA21, VPS33B, VRK1, VWA1, YARS2, ZC4H2, ZC4H2
Amiloidózis panel (11 gén)
Az amiloidózis egy heterogén betegségcsoport, amelyben a különböző amiloid fehérjék szerkezetének kóros változása és felhalmozódása történik a szövetekben és szervekben, zavarva azok normális működését. Ez a felhalmozódás különböző tüneteket okozhat, például szív-, vese- vagy májproblémákat, valamint idegrendszeri és bélrendszeri zavarokat, a betegség típusától függően.
Gének listája (11 gén):
APOA1, APOA2, APOC2, FGA, GSN, LYZ, TTR, APOC3, B2M, CST3, NLRP3
Vizsgálat menete
Vizsgálat kiválasztása és megrendelése
Rendelés a megrendelés.ibio.hu oldalon keresztül szerződött partnereink számára. Ha még nem ügyfelünk, vegye fel a kapcsolatot velünk az elérhetőségeinken.
Minta küldése a laboratóriumba
A levett minta küldése a laboratóriumunkba. Szükség esetén ehhez mintavételi eszközöket biztosítunk. A beküldött minta minőségellenőrzése a laborba érkezés után, a vizsgálat elkezdése.
Laboratóriumi vizsgálat és bioinformatikai adatelemzés
Nukleinsav izolálása, mintaelőkészítés és szekvenálás újgenerációs szekvenáló platformokon. A szekvenálási adatok bioinformatikai elemzése és a variánsok azonosítása.
Klinikai interpretáció és eredményközlés
Azonosított variánsok kapcsolatának vizsgálata a betegség fenotípusával, klinikai jelentőségének feltárása, osztályozása nemzetközi irányelvek szerint. Multidiszciplináris csapat által véglegesített lelet átadása a beküldőnek.
A laboratórium által fogadott mintatípusok
- Szájnyálkahártya minta a cég által biztosított mintavevővel
- Legalább 1 ml teljes vér EDTA-s csőben
- Legalább 1500 ng izolált DNS minta (legalább 30 ng/ul minimum 50 ul térfogatban)
Mintavételi dobozt igény esetén biztosítunk, amely tartalmazza a mintavételhez szükséges eszközöket és a mintaküldéssel kapcsolatos információkat.
Átfutási idő: Mintaérkezéstől számított 1-3 héten belül.
