Microcephaly, NGS
Identify genetic causes of microcephaly; genetic diagnosis and counseling.
Genelist (546): AAAS, AARS, ACADSB, ACD, ACE, ACO2, ACSL4, ACTB, ADAR, ADARB1, ADAT3, ADD3, AFG2A, AGA, AGMO, AGT, AGTR1, AIMP1, AKT3, ALDH18A1, ALG1, ALG3, ALG9, AMPD2, ANKLE2, ANKRD11, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ARFGEF2, ARHGAP31, ARSE, ARX, ASNS, ASPM, ASXL1, ASXL3, ATP5F1A, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRIP, ATRX, AUTS2, B3GALTL, BCAP31, BCL11A, BCOR, BLM, BMP4, BRAT1, BRCA2, BRF1, BRPF1, BUB1B, C2CD3, CARS1, CARS2, CASC5, CASK, CCDC88A, CD96, CDC45, CDC6, CDK13, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP57, CEP63, CHAMP1, CHD7, CHKB, CHMP1A, CIT, CKAP2L, CLP1, CLPB, CLPP, CNNM2, COASY, COG2, COG6, COL4A2, COL4A3BP, COQ9, COX15, COX7B, CPT2, CREBBP, CRIPT, CSNK2A1, CTCF, CTNNA2, CTNNB1, CTSD, CYB5R3, DCPS, DDX11, DDX3X, DGUOK, DHCR24, DHCR7, DHFR, DHTKD1, DIAPH1, DKC1, DLAT, DLD, DNA2, DNM1L, DOCK6, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPP6, DYM, DYNC1H1, DYNC1I2, DYRK1A, EBF3, EDC3, EFTUD2, EHMT1, EIF2AK3, EIF2S3, ELAC2, ELOVL4, EMC1, EMG1, ENTPD1, EP300, EPG5, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, EXOSC3, FAM20C, FANCA, FANCC, FANCD2, FANCE, FANCI, FAR1, FARS2, FBLN5, FBXO11, FGFR1, FGFR3, FIG4, FKRP, FOXG1, FRAS1, FREM1, FREM2, FRMD4A, FTO, GAD1, GBA, GFM1, GJA1, GLI2, GLYCTK, GMNN, GMPPB, GNPAT, GORAB, GPT2, GPX4, GRIP1, GSX2, GTF2E2, HAAO, HACE1, HCCS, HCFC1, HDAC8, HIVEP2, HMGB3, HNRNPH2, HSPD1, HYLS1, IARS, IBA57, IER3IP1, IFIH1, IFT140, IFT74, IGF1, IGF1R, IKBKG, IQSEC2, ITGA3, ITPA, JAM3, KAT6A, KAT6B, KATNB1, KCNJ2, KCNJ6, KCNT1, KDM5C, KIAA0586, KIAA1279, KIAA2022, KIF11, KIF14, KIF1A, KIF2A, KIF5C, KIFBP, KMT2A, KMT2C, KMT2D, KNL1, KYNU, L1CAM, LAGE3, LARP7, LARS, LIAS, LIG4, LINS, LIPT2, LMNB1, LRP5, MAPRE2, MASP1, MBD5, MBOAT7, MBTPS2, MCM4, MCM5, MCOLN1, MCPH1, MECP2, MED17, MED25, METTL5, MFF, MFSD2A, MGAT2, MICU1, MIR17HG, MKS1, MOCS1, MOCS2, MPC1, MPLKIP, MRE11, MRPS22, MRPS34, MSMO1, MTFMT, MTHFR, MVK, MYCN, MYH3, MYO18B, NAA10, NACC1, NADK2, NALCN, NANS, NAT8L, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NIPBL, NKAIN2, NOP10, NR2E1, NSDHL, NSMCE2, NSUN2, NUP107, NUP133, NUP37, NUS1, OCLN, OFD1, OGT, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PAH, PAK3, PALB2, PARN, PCDH12, PCLO, PCNA, PCNT, PDHA1, PDHX, PEX5, PEX7, PGAP2, PGAP3, PGBD3, PHC1, PHF6, PHGDH, PIEZO2, PIGA, PIGO, PIGY, PLEKHG2, PLK4, PLP1, PMM2, PNKP, PNPO, POC1A, POGZ, POLR1A, POMGNT1, POMK, POMT1, POMT2, POR, PORCN, PPP1R15B, PPP2R1A, PPT1, PQBP1, PRKD1, PRKDC, PRMT7, PRUNE1, PSAT1, PSPH, PTDSS1, PTF1A, PTRH2, PTS, PUF60, PUS1, PUS3, PYCR1, PYCR2, QARS, QARS1, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD50, RAD51, RARS, RARS2, RBBP8, RBPJ, RELN, REN, RFT1, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF168, RNU4ATAC, ROBO3, RPL10, RPS19, RPS23, RPS6KA3, RSPRY1, RTEL1, RTTN, SALL1, SAMHD1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN8A, SCN9A, SEMA3E, SEPSECS, SERAC1, SF3B4, SGPL1, SHH, SHMT2, SIL1, SIN3A, SIX3, SKI, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC6A8, SLC6A9, SLC9A6, SLF2, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMC5, SMG9, SMPD4, SNAP29, SNRPB, SOX11, SOX2, SP110, SPATA5, SPR, SPTAN1, SSR4, ST3GAL5, STAG1, STAMBP, STIL, STT3B, SYNGAP1, TAF1, TAF2, TAF6, TANGO2, TAPT1, TBC1D20, TBC1D24, TBCE, TBL1XR1, TBX1, TCF4, TCTN2, TECPR2, TELO2, TERT, TFAP2A, THOC2, THOC6, TINF2, TMCO1, TMEM165, TMTC3, TMX2, TP53RK, TPRKB, TRAIP, TRAPPC11, TRAPPC9, TREX1, TRIO, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TWIST1, TXN2, UBA5, UBE3A, UBE3B, UBR1, UFC1, UFM1, UNC80, UPB1, VARS, VARS2, VIPAS39, VPS11, VPS13B, VPS33B, VPS53, VRK1, WDFY3, WDR4, WDR62, WDR73, WHSC1, WWOX, XPA, XRCC2, XRCC4, YME1L1, ZBTB16, ZBTB18, ZC4H2, ZEB2, ZIC1, ZNF148, ZNF335, ZNF592, ZNHIT3
Featured Review
Identify genetic causes of microcephaly; genetic diagnosis and counseling.
Genelist (546): AAAS, AARS, ACADSB, ACD, ACE, ACO2, ACSL4, ACTB, ADAR, ADARB1, ADAT3, ADD3, AFG2A, AGA, AGMO, AGT, AGTR1, AIMP1, AKT3, ALDH18A1, ALG1, ALG3, ALG9, AMPD2, ANKLE2, ANKRD11, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ARFGEF2, ARHGAP31, ARSE, ARX, ASNS, ASPM, ASXL1, ASXL3, ATP5F1A, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRIP, ATRX, AUTS2, B3GALTL, BCAP31, BCL11A, BCOR, BLM, BMP4, BRAT1, BRCA2, BRF1, BRPF1, BUB1B, C2CD3, CARS1, CARS2, CASC5, CASK, CCDC88A, CD96, CDC45, CDC6, CDK13, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP57, CEP63, CHAMP1, CHD7, CHKB, CHMP1A, CIT, CKAP2L, CLP1, CLPB, CLPP, CNNM2, COASY, COG2, COG6, COL4A2, COL4A3BP, COQ9, COX15, COX7B, CPT2, CREBBP, CRIPT, CSNK2A1, CTCF, CTNNA2, CTNNB1, CTSD, CYB5R3, DCPS, DDX11, DDX3X, DGUOK, DHCR24, DHCR7, DHFR, DHTKD1, DIAPH1, DKC1, DLAT, DLD, DNA2, DNM1L, DOCK6, DOLK, DONSON, DPAGT1, DPM1, DPM2, DPP6, DYM, DYNC1H1, DYNC1I2, DYRK1A, EBF3, EDC3, EFTUD2, EHMT1, EIF2AK3, EIF2S3, ELAC2, ELOVL4, EMC1, EMG1, ENTPD1, EP300, EPG5, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, EXOSC3, FAM20C, FANCA, FANCC, FANCD2, FANCE, FANCI, FAR1, FARS2, FBLN5, FBXO11, FGFR1, FGFR3, FIG4, FKRP, FOXG1, FRAS1, FREM1, FREM2, FRMD4A, FTO, GAD1, GBA, GFM1, GJA1, GLI2, GLYCTK, GMNN, GMPPB, GNPAT, GORAB, GPT2, GPX4, GRIP1, GSX2, GTF2E2, HAAO, HACE1, HCCS, HCFC1, HDAC8, HIVEP2, HMGB3, HNRNPH2, HSPD1, HYLS1, IARS, IBA57, IER3IP1, IFIH1, IFT140, IFT74, IGF1, IGF1R, IKBKG, IQSEC2, ITGA3, ITPA, JAM3, KAT6A, KAT6B, KATNB1, KCNJ2, KCNJ6, KCNT1, KDM5C, KIAA0586, KIAA1279, KIAA2022, KIF11, KIF14, KIF1A, KIF2A, KIF5C, KIFBP, KMT2A, KMT2C, KMT2D, KNL1, KYNU, L1CAM, LAGE3, LARP7, LARS, LIAS, LIG4, LINS, LIPT2, LMNB1, LRP5, MAPRE2, MASP1, MBD5, MBOAT7, MBTPS2, MCM4, MCM5, MCOLN1, MCPH1, MECP2, MED17, MED25, METTL5, MFF, MFSD2A, MGAT2, MICU1, MIR17HG, MKS1, MOCS1, MOCS2, MPC1, MPLKIP, MRE11, MRPS22, MRPS34, MSMO1, MTFMT, MTHFR, MVK, MYCN, MYH3, MYO18B, NAA10, NACC1, NADK2, NALCN, NANS, NAT8L, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NIPBL, NKAIN2, NOP10, NR2E1, NSDHL, NSMCE2, NSUN2, NUP107, NUP133, NUP37, NUS1, OCLN, OFD1, OGT, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PAH, PAK3, PALB2, PARN, PCDH12, PCLO, PCNA, PCNT, PDHA1, PDHX, PEX5, PEX7, PGAP2, PGAP3, PGBD3, PHC1, PHF6, PHGDH, PIEZO2, PIGA, PIGO, PIGY, PLEKHG2, PLK4, PLP1, PMM2, PNKP, PNPO, POC1A, POGZ, POLR1A, POMGNT1, POMK, POMT1, POMT2, POR, PORCN, PPP1R15B, PPP2R1A, PPT1, PQBP1, PRKD1, PRKDC, PRMT7, PRUNE1, PSAT1, PSPH, PTDSS1, PTF1A, PTRH2, PTS, PUF60, PUS1, PUS3, PYCR1, PYCR2, QARS, QARS1, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD50, RAD51, RARS, RARS2, RBBP8, RBPJ, RELN, REN, RFT1, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF168, RNU4ATAC, ROBO3, RPL10, RPS19, RPS23, RPS6KA3, RSPRY1, RTEL1, RTTN, SALL1, SAMHD1, SASS6, SATB2, SBF1, SC5D, SCN1A, SCN8A, SCN9A, SEMA3E, SEPSECS, SERAC1, SF3B4, SGPL1, SHH, SHMT2, SIL1, SIN3A, SIX3, SKI, SLC13A5, SLC16A2, SLC1A2, SLC1A4, SLC25A1, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC6A8, SLC6A9, SLC9A6, SLF2, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMC5, SMG9, SMPD4, SNAP29, SNRPB, SOX11, SOX2, SP110, SPATA5, SPR, SPTAN1, SSR4, ST3GAL5, STAG1, STAMBP, STIL, STT3B, SYNGAP1, TAF1, TAF2, TAF6, TANGO2, TAPT1, TBC1D20, TBC1D24, TBCE, TBL1XR1, TBX1, TCF4, TCTN2, TECPR2, TELO2, TERT, TFAP2A, THOC2, THOC6, TINF2, TMCO1, TMEM165, TMTC3, TMX2, TP53RK, TPRKB, TRAIP, TRAPPC11, TRAPPC9, TREX1, TRIO, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TWIST1, TXN2, UBA5, UBE3A, UBE3B, UBR1, UFC1, UFM1, UNC80, UPB1, VARS, VARS2, VIPAS39, VPS11, VPS13B, VPS33B, VPS53, VRK1, WDFY3, WDR4, WDR62, WDR73, WHSC1, WWOX, XPA, XRCC2, XRCC4, YME1L1, ZBTB16, ZBTB18, ZC4H2, ZEB2, ZIC1, ZNF148, ZNF335, ZNF592, ZNHIT3