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Panel Name, Specifity and genes Tested/covered |
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TAF2, TCF4, TSPAN7, MED12, UBE2A, UBE3A, EZR, VLDLR, ZNF41, ZNF711, ZNF81, FTSJ1, KIF4A, NSDHL, ERLIN2, CTCF, CA8, CNTNAP2, CACNG2, FMN2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, ARHGEF9, DEAF1, ZEB2, CASK, ADNP, PCNT, RAB39B, FBXO31, ZMYND11, BRWD3, CDH15, ZNF674, ARID1B, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, ZNF407, ZDHHC15, UPF3B, MBD5, L2HGDH, ZC3H14, CLIC2, PHF8, TUBA1A, BCOR, VPS13B, ALG6, KIRREL3, CRADD, MED23, EHMT1, CTNNB1, ADAT3, CUL4B, SETD5, OFD1, PGAP1, NSUN2, TTI2, PTCHD1, METTL23, DCX, D2HGDH, MAGT1, CCDC22, FRMPD4, DLG3, IQSEC2, DDHD2, WASHC4, SHROOM4, SOBP, ZNF526, NEXMIF, C12orf57, DYNC1H1, DNMT3A, PACS1, CRBN, CC2D1A, TUSC3, SRPX2, GATAD2B, TRAPPC9, HUWE1, DYRK1A, LINS1, SLC6A17, EIF2S3, EPB41L1, AGTR2, ACSL4, FLNA, FMR1, AFF2, FOXG1, FOXP1, ALDH5A1, GDI1, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HSD17B10, HCFC1, ANK3, HPRT1, IDH2, IGBP1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, KCNJ10, KLF8, KPTN, L1CAM, LRP2, MAN1B1, MAOA, ARHGEF6, MECP2, MEF2C, MID1, MID2, NDST1, NHS, NRXN1, NRXN2, OCRL, OPHN1, PAK3, PDHA1, ATRX, KIF1A, PLP1, PQBP1, PRPS1, PRSS12, PURA, RAI1
Specificity
1 %
Genes
100 %
|
Autosomal Recessive Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN , (...)
View the complete list with 16 more genes
ST3GAL3, SLC25A1, STXBP1, VLDLR, ERLIN2, CA8, CNTNAP2, ARFGEF2, PCNT, L2HGDH, ZC3H14, VPS13B, ALG6, MED23, NSUN2, D2HGDH, DDHD2, ZNF526, C12orf57, CRBN, CC2D1A, TUSC3, TRAPPC9, LINS1, TECR, GRIK2, IDH2, AP4B1, AP4E1, AP4M1, AP4S1, KCNJ10, LRP2, MAN1B1, NRXN1, PRSS12
Specificity
3 %
Genes
100 %
|
Autism Spectrum Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)
View the complete list with 85 more genes
SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1, NSD1, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, DEAF1, CACNA2D3, CTTNBP2, ADNP, TBC1D20, RAB39B, BCKDK, ZMYND11, CDC42BPB, ARID1B, ARX, MFRP, GRIP1, POGZ, ASH1L, POMGNT1, CHD2, STXBP5, ZNF407, CHD8, UPF3B, MBD5, CHD7, WDFY3, ANKRD11, CNTN6, VPS13B, MED13L, DGAT2L6, KMT5B, EHMT1, CTNND2, KATNAL2, CUL3, SETD5, PTCHD1, DHCR7, DISC1, EFR3A, ADSL, TNRC6B, ASXL3, NEXMIF, C12orf57, PACS1, CC2D1A, DSCAM, NAA15, DYRK1A, ABCA7, FMR1, FOLR1, FOXG1, FOXP1, GABRB3, GAMT, GATM, GRIN2B, HCN1, ANK2, HOXA1, KCNQ3, KRAS, SMAD4, MAGEL2, MAOA, MECP2, MYO9B, MYT1L, NDP, NFIX, NRXN1, KAT2B, PQBP1, PTEN, RAD21, RAI1, RELN
Specificity
1 %
Genes
100 %
|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, JMJD1C, TSC1, TSC2, UBE3A, WWOX, YWHAG, FRRS1L, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, PRDM8, CACNA2D2, CACNB4, NPRL3, PIGQ, CAD, CERS1, PCDH19, ARHGEF9, ZEB2, CASK, CASR, CBL, GPHN, ARHGEF15, PLCB1, DNAJC5, SLC19A3, EFHC1, LIAS, SCARB2, BCKDK, PRICKLE1, CPA6, TPK1, NGLY1, ARID1B, ARX, SPATA5, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ZDHHC9, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, DENND5A, CHRNA2, CHRNA4, CHRNB2, COQ4, SLC25A22, SNX27, CLCN4, PRICKLE2, MBD5, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, CLTC, NUS1, FARS2, ANKRD11, NHLRC1, SATB2, BRAT1, CNTN2, KPNA7, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, UBA5, NECAP1, KANSL1, EHMT1, CSTB, NPRL2, CTSD, CARS2, GUF1, PIGG, RBFOX3, DDX3X, MFSD8, DIAPH1, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, C12orf57, TBL1XR1, ARV1, DNM1, DNMT3A, HECW2, PACS1, PIK3AP1, STRADA, PNPO, PIGP, PRRT2, SRPX2, ALG13, DYRK1A, EEF1A2, EPM2A, FASN, FGF12, FLNA, FOLR1, FOXG1, MTOR, GABRA1, ALDH5A1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GAMT, GATM, GCSH, GLDC, GLRA1, GNAO1, GOSR2, GABBR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, AMT, HCN1, HCN2, HIVEP2, HNRNPU, AP3B2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MDH2, MECP2, MEF2C, NAGA, NEDD4L, NF1, ATP1A2, NRXN1, ATP1A3, NTRK2, ALDH7A1, ATRX, SERPINI1, PIGA, PIGN, PNKD, PNKP, POLG, PPP2R1A, PPP3CA, PPT1, PLPBP, PTEN, PURA, QARS, RAB11A, RANBP2, RELN
Specificity
1 %
Genes
100 %
|
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
100 %
|
Eye Diseases - panels.
By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)
View the complete list with 146 more genes
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB
Specificity
1 %
Genes
100 %
|
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
100 %
|
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
100 %
|
You can check the following sources for additional information.