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Reporting severe and early onset disorder genes for further diagnostic options

  1. Severe and early onset disorder genes reported in WES and prenatal

CENTOGENE’s severe and early onset disorder gene list

Used in prenatal WES analysis and identification of "Pathogenic" and "Likely pathogenic" CentoMD variants in NGS products.

The following gene list shows all genes assessed in prenatal WES tests or analysed for P/LPCentoMD® variants in NGS products after September 18th, 2019.

For searching a single gene coverage, just use the search on www.centoportal.com


AAAS, AARS, ABAT, ABCA12, ABCB11, ABCB7, ABCC6, ABCC9, ABCD1, ABCD4, ABHD12, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACAN, ACAT1, ACE, ACO2, ACOX1, ACP5, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACY1, ADA, ADAMTS2, ADAMTSL2, ADAR, ADGRG1, ADGRG6, ADGRV1, ADK, ADNP, ADPRHL2, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGT, AGTR1, AGXT, AHDC1, AHI1, AIFM1, AIMP1, AIPL1, AIRE, AK2, AKR1D1, AKT1, AKT3, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, ALX3, ALX4, AMER1, AMPD1, AMPD2, AMT, ANK2, ANKH, ANKRD11, ANO5, ANTXR1, ANTXR2, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, APTX, AR, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC4, ARMC9, ARSA, ARSB, ARSE, ARX, ASAH1, ASCC1, ASH1L, ASL, ASPA, ASPH, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATOH7, ATP13A2, ATP1A1, ATP1A3, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATP8B1, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GALT6, B4GALT7, B9D1, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BGN, BHLHA9, BICD2, BIN1, BLM, BMP2, BMP4, BMPER, BMPR1B, BOLA3, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRD4, BRIP1, BRPF1, BRWD3, BSCL2, BSND, BTD, BTK, BUB1B, C12orf57, C12orf65, C1QBP, C2CD3, C8orf37, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CAD, CAMK2A, CAMK2B, CAMTA1, CARS2, CASK, CAV1, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC114, CCDC115, CCDC151, CCDC22, CCDC39, CCDC40, CCDC47, CCDC65, CCDC78, CCDC8, CCDC88A, CCDC88C, CCND2, CCNK, CCNO, CCNQ, CD40LG, CDC45, CDH1, CDH23, CDH3, CDK10, CDK13, CDK5RAP2, CDKL5, CDKN1C, CDON, CDT1, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP290, CEP41, CEP57, CEP63, CEP83, CFAP298, CFAP300, CFAP410, CFC1, CFL2, CFTR, CHAMP1, CHAT, CHD2, CHD3, CHD4, CHD7, CHD8, CHM, CHMP1A, CHRDL1, CHRNA1, CHRNA2, CHRNA4, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHSY1, CHUK, CIB2, CISD2, CIT, CKAP2L, CLCN1, CLCN4, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN19, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLTC, CNKSR2, CNPY3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG7, COG8, COL10A1, COL11A1, COL11A2, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL4A1, COL4A2, COL4A3, COL4A3BP, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COQ2, COQ4, COQ8A, COQ8A , COQ9, COX10, COX15, COX6B1, COX7B, CPLANE1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRB2, CRBN, CREBBP, CRELD1, CRIPT, CRKL, CRLF1, CRTAP, CRX, CRYAA, CSNK2A1, CSPP1, CSTA, CSTB, CTC1, CTCF, CTDP1, CTNNA2, CTNNB1, CTNND1, CTNS, CTSA, CTSD, CTSK, CUL3, CUL4B, CUL7, CWC27, CYB5R3, CYC1, CYP11A1, CYP21A2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCC, DCDC2, DCHS1, DCLRE1C, DCX, DDB2, DDC, DDHD1, DDHD2, DDR2, DDX11, DDX3X, DDX59, DEAF1, DENND5A, DEPDC5, DGAT1, DGUOK, DHCR24, DHCR7, DHDDS, DHODH, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL3, DLL4, DLX5, DMD, DMP1, DMPK, DNA2, DNAAF3, DNAAF4, DNAAF5, DNAH5, DNAH9, DNAJC12, DNAJC19, DNAJC3, DNM1, DNMT3A, DNMT3B, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPF2, DPM1, DPYD, DRC1, DSE, DSG1, DSP, DSTYK, DTNA, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYRK1A, EBF3, EBP, ECEL1, EDA, EDAR, EDNRA, EDNRB, EED, EEF1A2, EFEMP2, EFNB1, EFTUD2, EGR2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, ELAC2, ELMO2, ELN, ELOVL4, ELP1, ELP2, EMC1, EMD, EMG1, EMX2, ENPP1, ENTPD1, EOGT, EP300, EPG5, EPHB4, EPM2A, EPRS, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC9, EXPH5, EXT1, EXT2, EXTL3, EYA1, EZH2, FA2H, FAH, FAM111A, FAM126A, FAM161A, FAM20A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO11, FBXW4, FEZF1, FGA, FGB, FGD1, FGD4, FGF10, FGF12, FGF3, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGG, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLT4, FLVCR1, FLVCR2, FMN2, FMR1, FN1, FOLR1, FOXC1, FOXC2, FOXE1, FOXE3, FOXF1, FOXG1, FOXL2, FOXN1, FOXP1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMPD4, FRRS1L, FTCD, FTL, FTSJ1, FUCA1, FUT8, FXN, G6PC3, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GAS8, GATA1, GATA2, GATA3, GATA4, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GDF1, GDF3, GDF5, GDF6, GDI1, GFAP, GFER, GFM1, GHR, GJA1, GJA8, GJB2, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNA11, GNAI3, GNAO1, GNAQ, GNAS, GNB1, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPAA1, GPC3, GPC6, GPHN, GPSM2, GPX4, GREB1L, GRHL2, GRHL3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRM1, GSS, GTF2H5, GTPBP3, GUCY2C, GUSB, GZF1, HACE1, HADH, HADHA, HADHB, HARS, HAX1, HBA1, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HINT1, HIST1H1E, HIVEP2, HLCS, HMGCL, HMGCS2, HMX1, HNF1B, HNF4A, HNRNPH2, HNRNPK, HNRNPU, HOXA1, HOXA13, HOXC13, HOXD13, HPD, HPGD, HPRT1, HPS1, HPSE2, HRAS, HSD17B10, HSD17B4, HSD3B7, HSPD1, HSPG2, HUWE1, HYAL1, HYDIN, HYLS1, IARS, IARS2, ICK, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT80, IGF1, IGF1R, IGF2, IGFBP7, IGHMBP2, IGSF1, IHH, IKBKG, IL11RA, IL1RAPL1, IL2RG, IMPAD1, INPP5E, INPP5K, INPPL1, INSR, INVS, IQCB1, IQSEC2, IRF6, IRX5, ISPD, ITGA3, ITGA6, ITGA7, ITGA8, ITGB4, ITPR1, IVD, JAG1, JAGN1, JAK3, JAM3, KANK1, KANSL1, KARS, KAT6A, KAT6B, KBTBD13, KCNA2, KCNB1, KCNC1, KCNC3, KCNE1, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD1, KCTD7, KDM5C, KDM6A, KIAA0586, KIAA1109, KIAA1279 , KIDINS220, KIF11, KIF1A, KIF22, KIF2A, KIF5C, KIF7, KIRREL3, KIT, KLF1, KLHL15, KLHL40, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KPTN, KRAS, KRIT1, KRT8, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LARGE1, LARP7, LARS2, LBR, LDB3, LEMD3, LFNG, LGI4, LHX3, LHX4, LIAS, LIFR, LIG4, LINS, LINS1, LIPT1, LMBRD1, LMNA, LMX1B, LONP1, LRBA, LRP2, LRP4, LRP5, LRPPRC, LRRC56, LRRC6, LTBP2, LTBP3, LYST, LZTR1, MAB21L2, MACF1, MAF, MAFB, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K1, MAP3K7, MAPK8IP3, MAPRE2, MASP1, MATN3, MBD5, MBOAT7, MC2R, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MDH2, MECOM, MECP2, MECR, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEGF8, MEOX1, MESP2, MFRP, MFSD2A, MFSD8, MGAT2, MGP, MICU1, MID1, MIR17HG, MITF, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP21, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPDZ, MPI, MPLKIP, MPV17, MPZ, MRE11, MRPS2, MRPS22, MRPS34, MSL3, MSX1, MSX2, MTHFR, MTM1, MTO1, MTOR, MTR, MTRR, MTTP, MT-TP, MUSK, MUT, MUTYH, MVK, MYCN, MYH3, MYH6, MYH8, MYH9, MYO5A, MYO5B, MYO7A, MYPN, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAXD, NAXE, NBAS, NBEA, NBN, NCAPD3, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA6, NDUFAF2, NDUFAF5 , NDUFAF6, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NECTIN4, NEDD4L, NEK1, NEK8, NEU1, NEUROG3, NEXMIF, NF1, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHP2, NHS, NIPBL, NKX2-1, NKX2-5, NKX3-2, NKX6-2, NMNAT1, NODAL, NOG, NONO, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR2F1, NR2F2, NR5A1, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, NT5C3A, NTRK1, NTRK2, NUBPL, NUP107, NYX, OBSL1, OCLN, OCRL, ODAPH, OFD1, OPA1, OPA3, OPHN1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OTOGL, OTUD6B, OTULIN, OTX2, OXCT1, P3H1, P4HB, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PALB2, PANK2, PAPSS2, PARN, PAX2, PAX3, PAX6, PAX8, PAX9, PC, PCARE, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PCGF2, PCNT, PCYT1A, PDCD10, PDE10A, PDE4D, PDE6G, PDGFRB, PDHA1, PDHB, PDHX, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHOX2B, PIEZO1, PIEZO2, PIGA, PIGG, PIGL, PIGN, PIGO, PIGS, PIGT, PIGV, PIGY, PIH1D3, PIK3CA, PIK3R1, PIK3R2, PITX1, PITX2, PITX3, PKD1L1, PKHD1, PKLR, PLA2G6, PLAA, PLCB1, PLCB4, PLCE1, PLCG2, PLEC, PLEKHG5, PLG, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PLS3, PMM2, PMP22, PMPCB, PMS2, PNKP, PNPO, PNPT1, POC1A, POC1B, POGZ, POLD1, POLG, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POMGNT1, POMGNT2, POMP, POMT1, POMT2, PORCN, POU1F1, PPA2, PPM1D, PPP1CB, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM12, PREPL, PRF1, PRKAG2, PRKAR1A, PRKD1, PRMT7, PROC, PROP1, PRPS1, PRRT2, PRRX1, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSMB8, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTH1R, PTHLH, PTPN11, PTPN14, PTS, PUF60, PURA, PUS7, PXDN, PYCR1, PYCR2, PYGL, PYROXD1, QARS, QDPR, QRICH1, RAB11A, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD50, RAD51C, RAF1, RAG1, RAG2, RAI1, RAPSN, RARB, RARS2, RASA1, RAX, RBM10, RBM8A, RBPJ, RECQL4, RELN, REN, RERE, RET, RETREG1, RFT1, RFX6, RHOBTB2, RIN2, RIPK4, RIT1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, RNF135, RNF168, RNU4ATAC, ROBO3, ROGDI, ROR2, RORA, RPE65, RPGRIP1, RPGRIP1L, RPL11, RPS19, RPS6KA3, RRM2B, RSPH1, RSPH3, RSPO2, RSPO4, RSPRY1, RTEL1, RTN4IP1, RTTN, RUNX2, RXYLT1, RYR1, SACS, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SATB2, SBDS, SBF1, SC5D, SCAPER, SCARF2, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCNN1A, SCO1, SCO2, SCYL1, SDCCAG8, SDHA, SDHAF1, SEC23B, SEC24D, SELENON, SEPSECS, SERPINF1, SET, SETBP1, SETD2, SETD5, SF3B4, SFTPB, SFTPC, SGCA, SGSH, SH2D1A, SH3PXD2B, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHOX, SIK1, SIL1, SIM1, SIN3A, SIX1, SIX3, SIX5, SKI, SKIV2L, SLC10A7, SLC12A1, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC22A5, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A38, SLC25A4, SLC26A2, SLC27A4, SLC2A1, SLC2A10, SLC2A2, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A8, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A2, SLC52A3, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A1, SLC9A6, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMCHD1, SMN1, SMO, SMOC1, SMPD1, SMS, SNAP29, SNORD118, SNRPB, SNX14, SON, SOS1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX5, SOX9, SP110, SPAG1, SPAST, SPATA5, SPECC1L, SPEG, SPG11, SPR, SPRED1, SPTAN1, SPTBN2, SPTLC2, SRCAP, SRD5A3, SRY, ST14, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STAR, STAT2, STAT5B, STIL, STIM1, STRA6, STS, STX11, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SUZ12, SYN1, SYNE1, SYNGAP1, SYP, SYT1, SZT2, TAB2, TAC3, TACR3, TAF1, TAF13, TANGO2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX15, TBX18, TBX20, TBX22, TBX3, TBX4, TBX5, TBXAS1, TCF12, TCF20, TCF4, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TECPR2, TEK, TELO2, TERT, TFAP2A, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, TH, THAP1, THOC2, THOC6, THRA, TIMM8A, TINF2, TJP2, TK2, TKT, TLK2, TMCO1, TMEM126B, TMEM165, TMEM199, TMEM216, TMEM237, TMEM67, TMEM70, TMEM94, TMPRSS6, TMTC3, TNFRSF11B, TNFRSF13B, TNNT1, TOE1, TOP3A, TP63, TPM2, TPP1, TRAPPC11, TRAPPC2, TRAPPC9, TREX1, TRIM32, TRIM37, TRIO, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT1, TRPM1, TRPS1, TRPV3, TRPV4, TRPV6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPYL1, TTC19, TTC37, TTC7A, TTC8, TTN, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUFM, TUSC3, TWIST1, TWIST2, TWNK, TXNL4A, TYR, TYRP1, UBA5, UBE2A, UBE2T, UBE3A, UBE3B, UBR1, UBTF, UFC1, UFM1, UGT1A1, UMPS, UNC13D, UNC80, UPF3B, UROC1, UROS, USB1, USH1C, USH1G, USH2A, USP18, USP9X, UVSSA, VANGL1, VDR, VIPAS39, VIPAS39, VLDLR, VPS13B, VPS33B, VPS53, VRK1, VSX2, WAC, WAS, WDPCP, WDR11, WDR19, WDR26, WDR34, WDR35, WDR45, WDR45B, WDR60, WDR62, WDR73, WDR81, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WRAP53, WT1, WWOX, XPA, XPC, XRCC4, XYLT1, XYLT2, YAP1, YARS2, YWHAG, YY1, ZBTB18, ZBTB20, ZC3H14, ZC4H2, ZDHHC9, ZEB2, ZFP57, ZFPM2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYM6, ZMYND10, ZMYND11, ZNF462, ZNF711

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