Panele NGS

1. Padaczka (panele IMiD):

Panel EIEE v.1/2016 (49 genów)

Panel NBE v.1/2018 (83 geny)

2. Encefalopatie padaczkowe

OMIM Epileptic encephalopathy, early infantile – PS308350 – 89 Entries (OMIM www.omim.org/phenotypicSeries/PS308350)

Genetic epilepsy syndromes Version 2.143 (Genomics England PanelApp; https://panelapp.genomicsengland.co.uk/panels/402/)

3. Choroba Parkinsona

OMIM Parkinson Disease Phenotypic Series – PS168600; (OMIM; https://www.omim.org/phenotypicSeries/PS168600)

Parkinson Disease and Complex Parkinsonism V 1.68; (Genomics England PanelApp; https://panelapp.genomicsengland.co.uk/panels/39/)

4. Dystonia

OMIM Phenotypic Series Seizures, Dystonia – PS128100 (OMIM; https://www.omim.org/phenotypicSeries/PS128100)

5. Pęcherzowe oddzielanie naskórka (Epidermolysis bullosa)

6. Rybia łuska

7.Niepłodność męska i żeńska (panel IMiD)

8. Wybrane choroby metaboliczne (panel IMiD)

Choroba syropu klonowego: BCKDHA, BCKDHB, DBT

Acyduria metylomalonowa/zaburzenia kobalaminy: MMUT, MCEE, MMAA, MMAB

Acyduria metylomalonowa z homocysteinurią: MMADHC, MMACHC

Fenyloketonuria, hiperfenyloalaninemia, deficyt BH4, zaburzenia neurotransmisji dopaminergicznej i serotoninergicznej: GCH1, PTS, SPR, PCBD1, QDRP, QDRP, PAH, TH, TPH, DDC, MAOA, DBH, DNAJC12

9. Niedosłuch (panel IMiD)

ACTG1, ADCY1, ADGRV1, AIFM1, ARSG, ATP2B2, ATP6V1B2, BCS1L, BSND, CATSPER2, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MAP1B, MARVELD2, MET, MIR96, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PJVK, PLS1, PNPT1, POLR1B, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, ROR1, S1PR2, SCD5, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC26A4, SLC26A5, SLC4A11, SLITRK6, SMPX, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK/C10ORF2, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN

10. Dysplazja szkieletowa (panel IMiD)

PTH1R, ALX1, ALX3, C21ORF2, IFT122, IFT43, IFT52, WDR35, GJA1, MAP3K7, ADAMTSL2, SOX9, FN1, TTC21B, COL9A3, ALPL, ALX4, NIN, LOXL3, NOTCH2, TWIST2, IFT80, FLNA, IFT140, WDR19, COL9A2, COL2A1, COL11A2, COL11A1, COL9A1, SCARF2

11. Dyzostozy (panel IMiD)

ZSWIM6, PDE4D, EDNRA, EFTUD2, POLR1A, PRKAR1A, CTSK, TXNL4A, EVC, EVC2, SF3B4, POLR1C, POLR1D, TCOF1

12. Exostozy (panel IMiD)

13. Fenotyp marfanoidalny (panel IMiD)

COL6A1, COL6A2, COL6A3, FBN2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, FBN1

14. Kraniosynostoza (panel IMiD)

PHEX, MED13L, FGFR3, IHH, NOG, SIX2, EFNB1, TMCO1, SPRY4, TRIM37, IL11RA, CYP26B1, MSX2, SMAD6, TCF12, ZIC1, ERF, IDS, HUWE1, FREM1, JAG1, POR, KAT6A, ASXL1, RAB23, MEGF8, GLI3, TFAP2B, P4HB, SEC24D, FGFR2, SMO, IRX5, FGF9, ZEB2, RUNX2, MID1, SPECC1L, FGFR1, TBL1XR1, SLC25A24, FAM20C, ESCO2, RECQL4, TWIST1, SKI, SOX6, ZNF462, AHDC1

15. Niskorosłość (panel IMiD)

STAT3, BMP2, SOST, GH1, GHRHR, GHSR, BTK, GHR, GNPTAB, ARSB, IDUA, HESX1, STAT5B, RNPC3, ACAN, GSC, IGF1R, IGFALS, LHX3, LHX4, NPR2, PCNT, RPL10, SHOX, SOX3, TOP3A, POU1F1, PROP1, IGF1, CRIPT, DONSON, OTX2, AMER1, GLI1, GNAS, SOX2, B3GAT3, COLEC10, COLEC11, MASP1, AMMECR1, PITX2, ASXL3, BLM, PNPLA6, TGDS, GLI2, WNT7A, PROKR2, FAM111A, TBCE, NEK1, DYNC2H1, CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6, DHODH, SAMD9, SNRPB, LIG4, MED12, LMX1B, INSR, EIF4A3, DVL1, DVL3, FZD2, NXN, ROR2, WNT5A, RNU4ATAC, ATR, CENPJ, CEP152, CEP63, DNA2, NSMCE2, RBBP8, TRAIP, PIK3R1, H19, IGF2, GRHL3, NSD2

16. RASopatie i zespoły dysmorficzne (panel IMiD)

NF1, FBXW11, TRAF7, ACTB, ACTG1, CCDC8, OBSL1, CUL7, FGD1, HNRNPK, PHF6, RPS6KA3, ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCC2, SMARCD2, SMARCE1, SOX11, SOX4, SMARCB1, BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3, HRAS, SH3PXD2B, ANKRD11, KDM6A, KMT2D, EHMT1, KCNJ2, SPRED1, SMAD4, SMARCA2, SETD5, A2ML1, KRAS, MAPK1, MRAS, NRAS, PTPN11, RAF1, RIT1, RRAS, RRAS2, SOS1, SOS2, BRAF, CDC42, LZTR1, CBL, PPP1CB, SHOC2, EP300, CREBBP, KAT6B, MAP2K1, MAP2K2, HMGA2, PLAG1, DHCR7, IRF6, KMT2A

17. Schwannomatoza

NF2, KIT

18. Wrodzona łamliwość kości (panel IMiD)

COL1A2, COL1A1, PPIB, IFITM5, FKBP10, BMP1, CREB3L1, CRTAP, MBTPS2, FAM46A, SERPINF1, P3H1, SERPINH1, SP7, TMEM38B, WNT1, SPARC

19. Zespół CHARGE (panel IMiD)

CHD7, SEMA3E

20. Zespół Ehlersa-Danlosa (panel IMiD)

SLC39A13, ADAMTS2, B3GALT6, TNXB, COL5A1, COL5A2, FKBP14, PLOD1, AEBP1, COL12A1, COL3A1, C1R, C1S, CHST14, DSE

21. Zespół Gorlina (panel IMiD)

PTCH1, PTCH2, SUFU

22. Zespół Klippel-Feila (panel IMiD)

GDF3, GDF6, MEOX1, RIPPLY2

23. Zespół nadmiernego wrostu (overgrowth) (panel IMiD)

KLLN, DNMT3A, AKT2, HERC1, AKT3, CCND2, PIK3R2, PPP2R5D, TCF20, CHD8, PDGFRB, CDKN1C, ABCC9, EED, PIK3CA, SEC23B, PTEN, AKT1, LRP2, SUZ12, GPC4, SETD2, DIS3L2, HIST1H1E, ASXL2, GPC3, OFD1, MTOR, NSD1, NFIX, RNF125, FIBP, RNF135, EZH2

24. Zespół uszno-kłykciowy (panel IMiD)

EDN1, GNAI3, PLCB4

25. Analiza genów związanych z niepełnosprawnością intelektualną na bazie Intellectual disability Version 3.538 (Genomics England PanelApp)

AAAS, AARS, AASS, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACY1, ADAR, ADAT3, ADGRG1, ADK, ADNP, ADSL, AFF2, AFF4, AFG3L2, AGA, AGPS, AHDC1, AHI1, AIFM1, AIMP1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG3, ALG6, ALG8, ALMS1, AMER1, AMPD2, AMT, ANKH, ANKRD11, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, ARCN1, ARFGEF2, ARG1, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATN1, ATP13A2, ATP1A1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BLM, BMP4, BOLA3, BPTF, BRAF, BRAT1, BRD4, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BTD, BUB1B, C12orf4, C12orf57, C12orf65, C5orf42, CA2, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CAD, CAMK2A, CAMK2B, CAMTA1, CARS, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC47, CCDC88C, CCND2, CDC42, CDC6, CDH11, CDH15, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CEP83, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CIC, CIT, CKAP2L, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ4, COQ8A, COX10, COX15, COX6B1, CPS1, CRADD, CRB2, CREBBP, CSDE1, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTNNA2, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYC1, CYFIP2, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCHS1, DCPS, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLD, DLG3, DLG4, DMD, DMXL2, DNAJC12, DNAJC19, DNM1, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EBF3, EBP, EED, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EML1, EMX2, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAR1, FARS2, FAT4, FBXL3, FBXL4, FBXO11, FBXW11, FGD1, FGF12, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FTCD, FTSJ1, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRG2, GALC, GALE, GALT, GAMT, GATAD2B, GATM, GCDH, GCH1, GDI1, GFAP, GFER, GFM1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GPAA1, GPC3, GPSM2, GPT2, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GTF2H5, GTPBP2, GTPBP3, GUSB, HACE1, HADH, HADHA, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIST1H1E, HIVEP2, HK1, HLCS, HMGCL, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, HYLS1, IARS, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IKBKG, IL1RAPL1, INPP5E, INPP5K, INTS1, IQSEC2, IRF2BPL, IRX5, ISPD, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KAT6A, KAT6B, KCNA2, KCNB1, KCNC1, KCNC3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5A, KIF5C, KIF7, KLHL7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LGI4, LIG4, LINS1, LONP1, LRP2, LRPPRC, LZTR1, MAB21L1, MAB21L2, MACF1, MAF, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAPK8IP3, MASP1, MAST1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, METTL23, MFF, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MRPS22, MRPS34, MSL3, MSMO1, MTFMT, MTHFR, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NALCN, NANS, NBEA, NDE1, NDP, NDST1, NDUFA1, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF, NF1, NFASC, NFIA, NFIX, NFU1, NGLY1, NHS, NIPBL, NKAP, NKX2-1, NLGN3, NONO, NPC1, NPC2, NPHP1, NR2F1, NRAS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, OCLN, OCRL, ODC1, OFD1, OGT, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARN, PAX6, PAX8, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCNT, PCYT2, PDE4D, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PIGA, PIGB, PIGG, PIGL, PIGN, PIGO, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPLA6, POGZ, POLA1, POLG, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, POU3F3, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRKD1, PRMT7, PRODH, PRPS1, PRR12, PRSS12, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, QRICH1, RAB11B, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RARB, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, ROGDI, ROR2, RORA, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RTEL1, RTN4IP1, RTTN, SAMD9, SAMHD1, SATB2, SC5D, SCAPER, SCN1A, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SEPSECS, SERAC1, SET, SETBP1, SETD1B, SETD2, SETD5, SGPL1, SGSH, SHANK2, SHANK3, SHH, SHOC2, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC9A6, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX9, SPART, SPATA5, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SRCAP, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STRA6, STRADA, STX1B, STXBP1, SUCLG1, SUMF1, SUOX, SURF1, SVBP, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TAF1, TAF6, TANGO2, TAOK1, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCN2, TCTN2, TDP2, TECPR2, TELO2, TGIF1, TH, THOC2, THOC6, THRA, TIMM50, TLK2, TMCO1, TMEM165, TMEM216, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMEM94, TMTC3, TMX2, TOE1, TPP1, TRAF7, TRAIP, TRAPPC12, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRRAP, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBTF, UFM1, UMPS, UNC80, UPF3B, UROC1, USP9X, VAMP1, VAMP2, VARS, VLDLR, VPS13B, VPS53, VRK1, WAC, WARS2, WASF1, WDPCP, WDR26, WDR37, WDR45, WDR45B, WDR62, WDR73, WDR81, WWOX, XRCC4, YWHAG, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMIZ1, ZMYND11, ZNF142, ZNF462, ZNF711, ZSWIM6, ABAT, ABCA2, ACADSB, ACADVL, ACAT1, ACP5, ACTA2, ACVR1, ADA, ADAM22, ADAMTS10, ADARB1, ADD3, ADPRHL2, AFF3, AGMO, AGO1, AGXT, AHCY, AIMP2, AIPL1, AIRE, AK2, AKR1D1, AKT1, ALAD, ALDOA, ALG14, ALG9, ALKBH8, ALPL, ALX3, ALX4, ANO5, ANTXR1, AP1B1, ARL14EP, ARMC4, ASTN1, ATAD1, ATP1A2, ATP1A3, ATP6AP1, B3GALT6, B9D1, B9D2, BCORL1, BSND, C16orf62, C2CD3, C8orf37, CACNA2D2, CACNB4, CAMK2G, CAPZA2, CARS2, CASR, CCDC32, CCDC88A, CD96, CDC42BPB, CDH2, CDK16, CDK19, CDKN1C, CEP104, CEP120, CEP55, CEP63, CHD1, CHL1, CHST14, CLCN2, CNPY3, CNTNAP1, COQ9, COX7B, CRBN, CTNND1, CTU2, CUL3, CXorf56, CYP27A1, CYP7B1, DDX53, DENND5A, DHX37, DIP2B, DLAT, DLG1, DLG2, DLL1, DNM1L, DONSON, DPM3, DYNC1I2, EARS2, EEF1B2, EIF2AK2, EMG1, EPB41L1, ERMARD, EXOC2, EXOC7, EXOSC8, EXT2, FAAH2, FAM120C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FARSB, FDFT1, FGF14, FGFR2, FIBP, FRAS1, FREM2, FRRS1L, FRY, FTO, FUK, GAD1, GALNT2, GATA6, GBA, GBA2, GEMIN4, GJB1, GJB2, GJB3, GMNN, GNAI2, GNE, GOT2, GPC4, GRIA1, GSS, GSX2, GTF2E2, GTF3C3, HADHB, HARS, HAX1, HERC2, HINT1, HIST1H4C, HIST1H4J, HNF1B, HNMT, HNRNPH1, HSPG2, HTT, IFT27, IFT43, IL1RAPL2, IQSEC1, IREB2, ISCA2, ITGA7, KAT5, KAT8, KATNB1, KCNK4, KCNMA1, KCNN3, KDM3B, KDM6B, KIF21B, KLF7, KLHL15, KMT2B, LAMB2, LAS1L, LIAS, LINGO1, LIPT1, LIPT2, LMAN2L, LMBRD1, LMBRD2, LNPK, LRP5, LSS, LYRM7, LZTFL1, MADD, MAP1B, MAPK10, MAPRE2, MED12L, MED13, METTL5, MFSD2A, MIR17HG, MN1, MPV17, MTHFS, NAGS, NBAS, NBN, NCAPD2, NCAPG2, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NECAP1, NEDD4L, NEMF, NFIB, NHP2, NOVA2, NPHP3, NR4A2, NRROS, NT5C3A, NUDT2, NUP107, NUP188, NUP214, NUP62, NYX, OXR1, PAM16, PAX1, PDCD6IP, PDE10A, PDE6D, PDHB, PDP1, PET100, PIBF1, PIGC, PIGH, PIGK, PIGP, PIGQ, PIGS, PIK3C2A, PIK3R1, PISD, PITX2, PITX3, PKD1L1, PKHD1, PLEKHG2, PLOD2, PMPCA, PMS2, PNPO, PNPT1, POC1B, POLD1, POLR1C, POLR1D, POMK, POU1F1, PPA2, PPP1R12A, PRDM12, PRKAR1B, PROP1, PRRT2, PRSS56, PSMB8, PTH1R, PTHLH, PTRH2, PTRHD1, PUM1, RAB11A, RALGAPA1, RARS, RAX, RBPJ, RHEB, RIC1, RMRP, RNF113A, RNF13, RNU4ATAC, RPS23, RSPRY1, RSRC1, RUSC2, SACS, SALL1, SALL4, SARS2, SBDS, SBF1, SCAF4, SCAMP5, SCARF2, SCN11A, SCYL1, SEC23B, SEC31A, SETD1A, SFXN4, SH3PXD2B, SHROOM4, SLC12A2, SLC1A1, SLC25A26, SLC25A38, SLC26A2, SLC27A4, SLC2A2, SLC35A3, SLC35D1, SLC39A13, SLC45A1, SLC4A1, SLC4A11, SLC5A5, SLC5A6, SLC5A7, SMAD3, SMARCD2, SMG9, SNORD118, SNX27, SOX6, SPOP, SPTBN4, SRGAP3, SRP54, STT3A, SUCLA2, SUFU, SUPT16H, SUZ12, TAF13, TAF1C, TANC2, TASP1, TBC1D2B, TBC1D7, TBX1, TCTN3, TENM3, TERT, TET3, TFE3, TGFB1, THRB, TKFC, TKT, TMEM106B, TMEM231, TNIK, TNR, TNRC6B, TOMM70, TRAK1, TRAPPC11, TRAPPC2L, TRAPPC4, TRNT1, TRPM3, TSEN15, TTC5, TUBGCP2, TUBGCP4, TWIST2, UFC1, UGDH, UGP2, UPB1, USP27X, USP7, VARS2, VIPAS39, VPS11, VPS33B, VPS51, WASHC4, WASHC5, WDFY3, WDR4, WNT1, XPA, XYLT1, YARS, YIF1B, ZBTB11, ZC3H14, ZFP57, ZIC1, ZMYM2, ZNF148, ZNF292, ZNF335, A2ML1, ABCB11, ABCB7, ABCC6, ABCC8, ABCG5, ABHD12, ACAN, ACBD6, ACE2, ACIN1, ACOT9, ACOX2, ACSF3, ADCY5, ADGRG4, ADGRG6, ADGRV1, ADRA2B, AFP, AGK, AGL, AGPAT2, AGT, AGTR2, AK1, AKAP17A, AKAP4, AKAP6, AKR1C2, ALDH1A3, ALDOB, ALG2, ALS2, ALX1, ANK3, ANO10, ANO3, AP5Z1, APTX, AQP7, AR, ARHGAP31, ARHGAP36, ARHGAP6, ARHGEF2, ARHGEF4, ARHGEF6, ARIH1, ARSF, ASB12, ASCC3, ASCL1, ASMT, ASMTL, ASPH, ATCAY, ATP2A2, ATP2B3, ATP6V1B1, ATP7B, ATP8B1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN3L, ATXN7, AVP, AVPR2, AWAT2, B4GALT1, BDP1, BEAN1, BFSP2, BGN, BHLHA9, BICD2, BIN1, BMP15, BMPER, BMPR1B, BPIFB6, BRCA1, BRCA2, BRIP1, BTK, C19orf12, C2orf71, C3orf58, C4orf26, C9orf72, CA5A, CACNA1F, CACNA1H, CACNA1S, CACNA2D3, CACNG2, CANT1, CAP1, CAPN10, CAPRIN1, CASP2, CCDC103, CCDC114, CCDC115, CCDC174, CCDC39, CCDC40, CCDC65, CCDC78, CCDC8, CCNA2, CCNB3, CCNO, CCT5, CD99, CDC45, CDH23, CDH3, CDK5R1, CDT1, CFAP47, CFP, CHM, CHRDL1, CHRNA2, CHRNA4, CHRNB2, CHRNG, CHST3, CHSY1, CHUK, CIB2, CISD2, CLCN5, CLCN7, CLCNKA, CLCNKB, CLDN19, CLIC2, CLPP, CMC4, CNKSR1, CNTN3, CNTN4, COA3, COA5, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL25A1, COL2A1, COL4A3, COL4A4, COL4A6, COL6A1, COL6A3, COL9A1, COL9A2, COL9A3, COLEC10, COMP, COQ2, COQ5, COX14, CP, CPA6, CPD, CPXCR1, CRB1, CRLF2, CRX, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CSF1R, CSF2RA, CSNK1G1, CSTF2, CTGF, CTNND2, CTNS, CTPS2, CTSF, CTSK, CTTNBP2, CUL7, CXorf58, CYP1B1, DAB1, DACT1, DCC, DCHS2, DCTN1, DDB2, DDHD1, DDR2, DDX58, DECR1, DGKH, DHODH, DHRSX, DIAPH2, DLGAP2, DLL3, DLL4, DMP1, DMPK, DNA2, DNAAF3, DNAAF4, DNAJC3, DNM2, DNMT1, DOCK11, DPF1, DPF3, DPM2, DRD2, DSCAM, DSCR3, DSPP, DST, DSTYK, DVL1, DVL3, DYNC2H1, ECEL1, EDA, EDNRA, EDNRB, EFHC1, EFNB1, EGR2, EIF2A, EIF2AK1, EIF4G1, ELK1, ELN, ELOVL5, EN2, ENOX2, ENPP1, ENTPD1, EOGT, EOMES, EPM2A, EPPK1, ERCC4, ERF, ESX1, EVC, EVC2, EXT1, EYA1, F5, FAH, FAM111B, FAM160B1, FAM161A, FAM20A, FAM47B, FAM58A, FANCB, FASN, FBLN5, FBN1, FBN2, FBP1, FBXO25, FBXO7, FBXO8, FBXW4, FDXR, FEM1B, FGD4, FGF10, FGF3, FGFR1, FGFR3, FHL1, FKBP14, FKBP6, FKBPL, FLAD1, FLNB, FLT4, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXN1, FOXP3, FREM1, FRMD7, FTL, FXN, FYCO1, FZD3, FZD6, G6PC3, GAA, GAB3, GABRG3, GABRQ, GALK1, GALNS, GAN, GAS8, GATA2, GATA4, GBE1, GCK, GCSH, GDAP1, GDF5, GDF6, GHR, GIGYF2, GJA1, GJA3, GJA8, GLE1, GLMN, GLRA1, GLRA2, GLUD1, GNAI3, GNAL, GON4L, GORAB, GOSR2, GPHN, GPR179, GPRASP1, GRB14, GRHL3, GRIP1, GRM6, GRN, GSPT2, GTPBP8, GUCY2C, GYS2, H3F3A, H3F3B, HARS2, HAUS7, HDAC6, HIST1H4B, HIST3H3, HMGB3, HMGCS2, HNF4A, HOXA13, HOXC13, HOXD10, HOXD13, HPGD, HPS1, HPSE2, HR, HS6ST2, HSD3B7, HSF4, HYAL1, HYDIN, IARS2, IFITM5, IFNAR2, IFT122, IFT140, IFT80, IGBP1, IGF2, IGHMBP2, IGSF1, IHH, IL11RA, IL3RA, ILF2, IMPAD1, INF2, INPP4A, INPPL1, INSR, INTS6, INTS6L, INTS8, IQSEC3, IRAK1, IRF6, ITCH, ITGA3, ITGA4, ITGB6, ITIH6, JAG1, JAGN1, JAK3, KANK1, KATNAL2, KBTBD13, KCNA1, KCND1, KCND3, KCNE1, KCNH5, KCNK12, KCNQ1, KCTD1, KDM5A, KIF1C, KIF21A, KIF22, KIF26B, KIF4A, KIRREL3, KIT, KLF1, KLF8, KLHL21, KLHL34, KLHL4, KLHL40, KRIT1, LARS2, LBR, LDB3, LEMD3, LFNG, LGI1, LHFPL3, LHX3, LHX4, LIMK1, LITAF, LMNA, LMX1B, LOXHD1, LRAT, LRP1, LRP4, LRRC32, LRRC6, LRRK1, LRRK2, LTBP2, LTBP3, LYST, MACC1, MAFB, MAGEA11, MAGEB1, MAGEB10, MAGEB2, MAGEC1, MAGEC3, MAGED1, MAGEE2, MAGI2, MAGIX, MAGT1, MAOB, MAP3K1, MAP3K15, MAP3K7, MAP7D3, MAPT, MARS2, MATN3, MBNL3, MC2R, MCEE, MCM9, MECR, MEGF10, MEGF8, MESP2, MET, MFRP, MGAT5B, MIB1, MITF, MLH1, MMP13, MMP21, MNX1, MORC4, MPDZ, MPZ, MRAP, MRE11, MSX1, MSX2, MT-ATP6, MTF1, MTM1, MTMR1, MTMR14, MTMR2, MTMR8, MT-ND1, MT-ND4, MTPAP, MT-TK, MTTP, MT-TP, MXRA5, MYBPC1, MYH10, MYH3, MYH6, MYH8, MYH9, MYO1D, MYO1G, MYO5B, MYO7A, NADK2, NCAPH, NCKAP1, NDN, NDRG1, NDUFA10, NDUFA11, NDUFA12, NDUFA9, NDUFAF3, NDUFS2, NDUFS3, NEB, NECAB2, NECTIN1, NEFL, NEK1, NGF, NHEJ1, NHLRC1, NIPA1, NKX2-5, NKX3-2, NLGN4X, NLRP3, NMNAT1, NODAL, NOG, NOP56, NOTCH2, NPHP4, NPHS1, NPHS2, NPR2, NPR3, NR1I3, NR2F2, NR5A1, NRK, NRXN2, NRXN3, NSF, NTM, NTNG1, NUS1, NXF4, NXF5, OBSL1, ODF2L, OR5M1, ORC1, ORC4, ORC6, OTOGL, OTUD7A, OTULIN, OXCT1, P2RY4, P2RY8, P3H1, P4HB, PABPC5, PALB2, PANK2, PAPSS2, PARK7, PARP1, PASD1, PAX2, PAX3, PAX7, PAX9, PBRM1, PCBD1, PCDH10, PCLO, PCYT1A, PDCD10, PDE6G, PDGFB, PDYN, PECR, PGM1, PGRMC1, PHC1, PHF10, PHKA1, PHKA2, PHKG2, PHOX2B, PIEZO2, PIGY, PIK3C3, PIN4, PINK1, PJA1, PLCE1, PLCXD1, PLEC, PLOD1, PLOD3, PLXNB3, PMP22, PNKD, PNP, POC1A, POGLUT1, PPOX, PPP1R1B, PPP2R2B, PRDX4, PREPL, PRICKLE1, PRICKLE2, PRICKLE3, PRKAR1A, PRKCG, PRKN, PRKRA, PRMT9, PROX2, PRRG1, PRRG3, PRX, PSAT1, PSEN1, PSMA7, PSMD10, PTPN21, PUDP, PYGL, QKI, RAB27A, RAB40AL, RABL6, RAD50, RAD51, RAD51C, RALGDS, RANBP17, RANBP2, RAP1GDS1, RAPGEF1, RAPSN, RASA1, RBFOX1, RBL2, RBM28, RBM8A, RECQL4, REEP1, REEP2, RENBP, RET, RETREG1, RFX6, RGN, RGS7, RIMS1, RIPK4, RNF135, RNF168, RNF216, ROBO3, RORB, RPE65, RPGR, RPGRIP1, RPS19, RRAS, RSPH1, RSPH3, RSPO4, RTL9, RTN2, RUBCN, RUNX2, RYR1, RYR3, SATB1, SBF2, SCARB2, SCN1B, SCN4A, SCN9A, SCRIB, SELENOI, SETDB2, SETX, SF3B4, SGCA, SGCE, SH3TC2, SHANK1, SHOX, SHROOM2, SIGMAR1, SIX1, SIX5, SKIV2L, SLC20A2, SLC22A5, SLC25A13, SLC25A19, SLC25A20, SLC25A24, SLC25A53, SLC25A6, SLC26A9, SLC2A10, SLC30A9, SLC31A1, SLC52A3, SLC5A2, SLC6A4, SLC6A5, SLC7A7, SLC9A9, SMARCA1, SMARCAL1, SMARCC1, SMARCD3, SMCHD1, SMG8, SMO, SNCA, SNIP1, SNTG1, SNX3, SOBP, SOX17, SPAG1, SPAST, SPEG, SPG21, SPG7, SPRTN, SPRY3, SPTLC1, SPTLC2, SREBF2, SRPX2, SRY, STAB2, STAR, STARD8, STAT1, STAT5B, STS, STT3B, STUB1, STX11, STX3, SYNCRIP, SYNE1, SYT14, SYTL4, SYTL5, TAB2, TACO1, TAF2, TAF7L, TARDBP, TBC1D8B, TBP, TBX15, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCEAL3, TCF12, TCOF1, TCP10L2, TCTN1, TECR, TEK, TENM1, TEPSIN, TFAP2A, TFAP2B, TFB2M, TFG, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TGM6, THAP1, THUMPD1, TIMM8A, TINF2, TK2, TKTL1, TLR8, TM4SF20, TMEM126B, TMEM132E, TMEM135, TMEM260, TMLHE, TMPRSS6, TNKS2, TNPO2, TOR1A, TP63, TP73, TPH2, TPK1, TRAPPC2, TRAPPC6A, TREX2, TRHR, TRIM37, TRIP11, TRIP13, TRPM1, TRPS1, TRPV4, TSC22D3, TSHR, TSPAN8, TTBK2, TTC7A, TTN, TTPA, TTR, TUBA8, TUBAL3, TUFM, TXNL4A, TYR, TYRP1, UBR4, UBR7, UGT1A1, UNC13A, UQCRB, UQCRQ, UROS, USB1, USP18, UTP14A, UVSSA, VAMP7, VDR, VIP, VPS35, VSX2, WDR11, WDR13, WDR19, WDR34, WDR35, WDR60, WDR83OS, WFS1, WIPI2, WNK3, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WRN, WT1, WWC3, XIAP, XIST, XK, XKRX, XPC, XPNPEP3, YAP1, ZBTB16, ZBTB40, ZCCHC12, ZCCHC8, ZDHHC15, ZFHX4, ZFX, ZIC3, ZMPSTE24, ZMYM3, ZMYM6, ZMYND12, ZNF41, ZNF425, ZNF526, ZNF592, ZNF599, ZNF674, ZNF713, ZNF81