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Panel Name, Specifity and genes Tested/covered |
Macrocephaly Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)
View the complete list with 1 more genes
MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX, PTEN
Specificity
15 %
Genes
50 %
|
Macrocephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)
View the complete list with 1 more genes
MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX, PTEN
Specificity
15 %
Genes
50 %
|
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A4, BRAF, SLC25A1, SLC25A15, SLC25A16, SLC2A1, SLC31A1, SLC35A1, SLC35A2, SLC35A3, SLC4A4, SLC6A1, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SNAP29, SIK1, SOS1, SOS2, SOX10, SOX2, SOX3, SOX5, SPG11, SPTAN1, SSR4, STIM1, PLK4, CDKL5, STXBP1, SUOX, SURF1, BUB1B, SYN1, SYNGAP1, SYP, TAF1, TAF2, TAT, TBCE, TBR1, TCF12, TCF20, TCF4, TGFBR1, TGFBR2, TGIF1, TH, THRB, ACO2, TIMM8A, NKX2-1, TSPAN7, ACOX1, MED12, TPI1, TREX1, TRIO, TRIP12, TSC1, TSC2, CEP41, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, USP9X, KDM6A, VLDLR, VRK1, WNT1, WWOX, XPA, ZIC2, RNF113A, KAT6A, SCAPER, ZNF711, ZNF81, ACTB, ARL6, FTSJ1, HDAC8, KIF4A, MCOLN1, NSDHL, RLIM, UBE3B, USP27X, ZBTB20, ERLIN2, FBXL4, CTCF, CA2, CA5A, SLC12A5, CA8, CNTNAP2, CACNA1C, CACNA1G, CACNA2D2, HDAC4, FMN2, CCDC78, NSD1, CAD, RAB18, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, SCYL1, ACTG1, ELOVL4, TMEM237, MRPS22, ARHGEF9, DEAF1, CAPN10, COG5, ZEB2, PIGT, PPP1R15B, CASK, SNX14, CASP2, MICU1, CBL, SHOC2, MBTPS2, GPHN, ANKH, CBS, PUS1, JAM3, SETBP1, ALG9, LRPPRC, GEMIN4, ADNP, CCNA2, BSCL2, KMT2B, ARFGEF2, PANK2, NDUFAF5, PLCB1, SAMHD1, APTX, MPLKIP, PCNT, SFXN4, TBC1D20, MGME1, DNAJC5, UPB1, TRIM32, NLRP3, RAB39B, FBXO31, TUBGCP4, BCAP31, ZNF423, UBR1, COQ8A, FIG4, HAX1, STAMBP, ZMYND11, SRCAP, CLP1, RAB3GAP1, EXOSC2, ACVR1, CDON, RAB3GAP2, COLEC11, CENPJ, WAC, BRWD3, GMNN, GJC2, CDH15, KAT6B, NDE1, PORCN, ACY1, CDK5, PDSS1, CDK6, AFF4, PGAP2, EXOSC3, CEP83, FKRP, ARID2, ARID1B, ARX, GPT2, SPATA5, TUBGCP6, PHF6, TMCO1, ELP2, PECR, ALG1, ATP6AP2, ASXL1, PRIMA1, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, CENPE, SLC39A6, COG4, COG6, COG7, COG8, IFT27, RTTN, PMPCA, CDK5RAP2, ASCC3, NAA10, BBS7, POGZ, KCNT1, MMAA, IFIH1, GBA2, ASPM, THOC2, NALCN, POMGNT1, CHD2, FRAS1, DOCK7, ALG12, CHKB, COQ4, CNKSR1, CNKSR2, POMT2, ISCA2, SLC25A22, TECPR2, KIAA0586, CCDC88C, AARS, SNX27, TTC8, CHD8, SLC35C1, B3GLCT, CLCN4, SPRED1, NUBPL, CHAMP1, SMOC1, UBR7, FRY, NDUFA11, UPF3B, MBD5, APOPT1, L2HGDH, ZC3H14, CYP2U1, CHD7, CLIC2, PHF8, TPP1, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB4A, CLN8, BCOR, HACE1, SERAC1, FARS2, TBC1D7, RNF125, GTF2H5, RMND1, ANKRD11, DYM, PDHX, ABHD5, INPP5E, ACAD9, AHI1, SATB2, RNASET2, BRAT1, VPS13B, RBM28, COL18A1, KCTD7, COL4A1, COL4A2, COL4A3BP, ADAR, COX10, COX15, GMPPA, GMPPB, MED13L, PEX26, PDSS2, ALG3, SLC13A5, ALG6, ALG2, ALG8, PNPT1, PIGO, ETHE1, ACBD6, CRADD, DOLK, KIF1BP, CREBBP, DHTKD1, PGAP3, MED23, MED17, NDUFA12, APC2, RNASEH2C, PTRH2, POC1A, WDR62, TCTN3, MMACHC, NECAP1, KANSL1, FAM126A, SIL1, EHMT1, FTO, SMC3, RABL6, MFF, MOGS, CEP104, LARP7, VPS37A, ZC4H2, CTDP1, TMEM216, WDR45B, PRMT9, CTNNB1, ADAT3, MMADHC, COQ2, AHDC1, ZCCHC8, CTSD, CTSF, DDX59, KATNAL2, RAB40AL, ARL13B, TANGO2, FRMD4A, ANO10, CCDC88A, DARS2, CUL4B, PRMT7, SETD5, TTC21B, OFD1, RNASEH2B, ADK, PGAP1, LAS1L, TRAPPC11, TCTN2, CPLANE1, SRD5A3, CEP63, MFSD2A, POMGNT2, WDR73, GON4L, TRMT1, PIGG, NSUN2, KRBOX4, PIGV, TCTN1, TMEM135, CSPP1, FAR1, TM4SF20, TTI2, POMK, NARS2, BBS10, HEPACAM, PTCHD1, HGSNAT, UNC80, WDR81, BBS12, DAG1, DARS, C12orf65, CKAP2L, HIKESHI, TMEM138, DBT, METTL23, PARP1, DCX, DDC, ESCO2, DDOST, ACSF3, DDX3X, WDPCP, BBIP1, CCDC28B, CCDC115, ADRA2B, D2HGDH, TMEM67, TRMT10A, MFSD8, DHCR24, B3GALNT2, DHCR7, DHFR, CYB5R3, DIAPH1, MED25, NIPBL, MAGT1, DKC1, CCDC22, WDR45, EMC1, DLD, WASHC5, FRMPD4, SETD1A, KDM6B, DLG3, CEP290, SZT2, ZBTB40, IQSEC2, KIAA0556, KDM1A, CEP135, ADSL, DDHD2, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, CEP152, ZSWIM6, DMPK, EPG5, KLHL15, ASXL3, ZNF526, EARS2, RSPRY1, CCBE1, NEXMIF, ROGDI, C12orf57, TBL1XR1, DYNC1H1, DNM1, DNM1L, DNMT3A, DNMT3B, DCPS, DPAGT1, BBS9, DPH1, PACS1, DPM1, DPM2, DPM3, POLR3A, DPP6, DPYD, CRBN, ATP13A2, RFT1, CC2D1A, TUSC3, PYCR2, POLR3B, IFT172, KIF7, PRRT2, DNAJC19, STT3B, STRA6, CLPB, TMEM165, GATAD2B, TUBB2B, TRAPPC9, POC1B, EFTUD2, ALG13, HUWE1, DYRK1A, LINS1, SLC6A17, AGA, EEF1A2, EEF1B2, MEGF8, ALG11, AGPAT2, EIF2AK3, EIF2S3, EMX2, ENTPD1, EP300, AHCY, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EZH2, ACSL4, FANCD2, FASN, AK1, FKTN, FGD1, FGFR1, FGFR2, FGFR3, FH, TMEM231, ISPD, FLNA, FMR1, AFF2, FOXG1, FOXP1, AKT3, MTOR, PET100, FUCA1, ALDH3A2, GABRA1, ALDH5A1, GABRB3, GAD1, GALE, B4GALNT1, GALT, GAMT, GATM, GCH1, GCSH, GDI1, GFAP, GK, GLDC, GLI2, GLI3, GNAO1, GNAS, GNPAT, GNS, GPC3, GABBR2, ADGRG1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSS, GTF2E2, GUSB, AMT, HIST3H3, HIST1H4B, HSD17B10, HCCS, HCFC1, HCN1, HERC2, HESX1, ANK3, HLCS, HMGB3, HNRNPK, HOXA1, HPD, HPRT1, HRAS, IDS, IDUA, IGF1, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, IKBKG, IL1RAPL1, ABCC9, IMPA1, INPP4A, ABCD1, STT3A, ITPA, KATNB1, KCNA2, KCNB1, KCNH1, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KIF2A, KIF5C, KIF11, KPTN, KRAS, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, COG1, LIG4, LRP2, LZTFL1, LZTR1, MAB21L2, SMAD4, MAF, MAG, ABCD4, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MASP1, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MEIS2, MGAT2, MID1, MID2, MKKS, MKS1, KMT2D, MLYCD, MOCS1, MOCS2, MPDU1, MPDZ, MPI, ASAH1, MT-CO1, MT-CO2, MT-CO3, ASL, MT-ND5, MTR, MTRR, MT-TK, MT-TL1, MT-TS1, MT-TV, MMUT, ASNS, MVK, MYCN, ASPA, MYO5A, MYT1L, NAGA, NAGLU, NBN, NDP, NDST1, NDUFA1, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIX, NHS, PNP, NPHP1, NR2F1, NRAS, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, OCLN, OCRL, ATP2A2, OPHN1, ORC1, OTX2, ATP6V1B2, PAFAH1B1, PAK3, PAX6, PC, ATP7A, AIFM1, PDE4D, PDE6D, PDHA1, ATR, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX6, ATRX, PEX7, KIF1A, PGK1, AUH, PGM1, PGM3, PHGDH, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PLP1, PMM2, PNKP, POMT1, B4GALT1, PPOX, B4GALT7, PPP2R1A, PPP2R5D, PPT1, PQBP1, PRKCG, PRKRA, PRODH, PRPS1, PRSS12, SLC33A1, PTCH1, PTDSS1, PTEN, PTPN11, BBS1, BBS2, BBS4, BBS5, PURA, NECTIN1, PEX5, PYCR1, ALDH18A1, QARS, RAB27A, RAD21, RAF1, RAI1, RALGDS, BCKDHA, RARB, BCKDHB, RASA2, KDM5A, RBBP8, RELN
Specificity
1 %
Genes
50 %
|
Macrocephaly.
By MGZ Medical Genetics Center (Germany).
SYN1, MED12, TSC1, TSC2, NSD1, CCND2, RAB39B, MLC1, BRWD3, CDKN1C, SETD2, CHD8, UPF3B, TBC1D7, RNF135, CUL4B, OFD1, HEPACAM, DIS3L2, WASHC5 , (...)
View the complete list with 22 more genes
SYN1, MED12, TSC1, TSC2, NSD1, CCND2, RAB39B, MLC1, BRWD3, CDKN1C, SETD2, CHD8, UPF3B, TBC1D7, RNF135, CUL4B, OFD1, HEPACAM, DIS3L2, WASHC5, GPSM2, DNMT3A, KIF7, HUWE1, EIF2B5, EZH2, AKT1, AKT3, GFAP, GLI3, GNAQ, GPC3, GRIA3, ABCC6, KPTN, L1CAM, ASPA, NFIX, PIK3CA, PIK3R2, PTCH1, PTEN
Specificity
8 %
Genes
50 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center (Germany).
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)
View the complete list with 322 more genes
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, CTC1, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L
Specificity
1 %
Genes
50 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center (Germany).
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)
View the complete list with 321 more genes
RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L
Specificity
1 %
Genes
50 %
|
Brain Malformations / Neuronal Migration Disorders.
By MGZ Medical Genetics Center (Germany).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, SGCE, SGSH, STIL, SLC16A2, SLC2A1, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMS , (...)
View the complete list with 245 more genes
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, SGCE, SGSH, STIL, SLC16A2, SLC2A1, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMS, SOX3, SPTAN1, CDKL5, STUB1, STXBP1, SYN1, SYNGAP1, SYNJ1, SYP, TCF4, TSPAN7, MED12, TREX1, TSC1, TSC2, TUBA8, TUBB2A, TUBG1, UBE2A, UBE3A, KDM6A, XK, ZMYM3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, CNTNAP2, CACNA1H, CACNB4, NSD1, PCDH19, NLGN4X, NLGN3, ZEB2, CASK, CASR, MBTPS2, JAM3, ARHGEF15, CCND2, ARFGEF2, PANK2, PLCB1, SAMHD1, EFHC1, RAB39B, SCARB2, CLP1, PRICKLE1, MLC1, CDON, CENPJ, BRWD3, NDE1, ZNF674, PORCN, CDKN1C, EXOSC3, ARID1B, ARX, PHF6, ATP6AP2, ADA2, SETD2, DEPDC5, ZDHHC9, RNASEH2A, CDK5RAP2, NAA10, KCNT1, ASPM, THOC2, VPS13A, CHD2, CHRNA2, CHRNA4, CHRNB2, DISP1, SLC25A22, CHD8, CLCN4, PRICKLE2, ZDHHC15, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, TUBA1A, CLN6, TUBB3, TUBB4A, TUBB, TBC1D7, RNF135, FA2H, NHLRC1, KCTD7, COL4A1, COL4A2, ADAR, CP, KIF1BP, RNASEH2C, WDR62, EHMT1, SMC3, CSTB, RAB40AL, C19orf12, CUL4B, OFD1, RNASEH2B, DCAF17, CYP27A1, HEPACAM, PTCHD1, HGSNAT, DOK7, DARS, DCX, DIS3L2, NIPBL, MAGT1, DKC1, WDR45, DLG3, IQSEC2, TBC1D24, SHROOM4, CEP152, NEXMIF, GPSM2, POLR3A, ATP13A2, PNPO, POLR3B, KIF7, PRRT2, SEPSECS, SRPX2, TUBB2B, HUWE1, DYRK1A, EEF1A2, EIF2B3, EIF2B5, EIF2S3, EOMES, AGTR2, EPM2A, EZH2, ACSL4, FANCB, FGD1, FGF8, FGFR3, FH, FLNA, FMR1, AFF2, FOXG1, FOXH1, AKT1, AKT3, FTL, GABRA1, GABRD, GABRG2, GALC, GAMT, GDI1, GK, GLDC, GLI2, GLI3, GNAQ, GOSR2, GPC3, ADGRG1, GRIA3, GRIN2A, HSD17B10, HCFC1, HCN1, HERC2, HNRNPDL, HPRT1, IDS, IGBP1, AP1S2, ELP1, IL1RAPL1, ITM2B, APP, KCNH5, KCNQ2, KCNQ3, KIF2A, KIF5C, KLF8, KPTN, L1CAM, LGI1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, ASAH1, MYBPC1, ASPA, NEU1, NFIX, NODAL, NOL3, NOTCH3, NRXN1, NXF5, OCLN, OPHN1, PAFAH1B1, PAK3, ALDH7A1, ATRX, PGK1, PHGDH, PIK3CA, PIK3R2, PLA2G6, PNKP, PPT1, PQBP1, HTRA1, PTCH1, PTEN, QARS, RAD21, RBM10, RELN
Specificity
2 %
Genes
50 %
|
TBC1D7.
By Fulgent Genetics Fulgent Genetics (United States).
TBC1D7
Specificity
100 %
Genes
17 %
|
You can check the following sources for additional information.