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Panel Name, Specifity and genes Tested/covered |
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711, ZNF81, FTSJ1, HDAC8, NSDHL, PCDH19, NLGN4X, NLGN3, WDR13, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, NAA10, THOC2, CNKSR2, CLCN4, ZDHHC15, UPF3B, CLIC2, PHF8, BCOR, ZC4H2, RAB40AL, CUL4B, OFD1, LAS1L, PTCHD1, FAAH2, DCX, ZCCHC12, MAGT1, DKC1, CCDC22, FRMPD4, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, SRPX2, HUWE1, EBP, EIF2S3, AGTR2, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, GSPT2, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, KLF8, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, MTM1, NDP, NDUFA1, NHS, OCRL, OGT, OPHN1, OTC, PAK3, ATP7A, CDK16, AIFM1, ATRX, PLP1, PQBP1, PRPS1, RBM10
Specificity
1 %
Genes
100 %
|
Mental retardation, X-linked (NGS panel for 89 genes).
By CGC Genetics (Portugal).
RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8 , (...)
View the complete list with 69 more genes
RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8, KIF4A, NSDHL, PCDH19, NLGN4X, ARHGEF9, CASK, MBTPS2, RAB39B, BRWD3, PORCN, ARX, PHF6, ATP6AP2, ZDHHC9, UPF3B, CLIC2, PHF8, BCOR, CUL4B, OFD1, DCX, DKC1, DLG3, IQSEC2, SHROOM4, DMD, NEXMIF, SRPX2, HUWE1, ACSL4, FANCB, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCCS, HCFC1, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, L1CAM, LAMP2, MAOA, ARHGEF6, MECP2, MID1, MID2, NDP, NDUFA1, NHS, OCRL, OPHN1, OTC, PAK3, ATP7A, PDHA1, ATRX, PGK1, PLP1, PQBP1, PRPS1
Specificity
2 %
Genes
100 %
|
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X , (...)
View the complete list with 107 more genes
RPL10, RPS6KA3, SLC16A2, SLC35A2, SLC6A8, SLC7A3, SLC9A6, SMC1A, KDM5C, SMS, SOX3, SSR4, CDKL5, SYN1, SYP, TAF1, TSPAN7, MED12, UBE2A, USP9X, KDM6A, RNF113A, ZMYM3, ZNF711, FTSJ1, HDAC8, KIF4A, NSDHL, RLIM, USP27X, PCDH19, NLGN4X, NLGN3, ARHGEF9, CASK, MBTPS2, RAB39B, BCAP31, BRWD3, ARX, PHF6, ATP6AP2, TMLHE, ZDHHC9, NAA10, THOC2, CNKSR2, CLCN4, UPF3B, CLIC2, PHF8, BCOR, ZC4H2, CUL4B, BCORL1, LAS1L, MAP7D3, PTCHD1, FAAH2, DCX, H2BFWT, ZCCHC12, DDX3X, DKC1, CCDC22, WDR45, FRMPD4, DLG3, IQSEC2, SHROOM4, KLHL15, NEXMIF, DRP2, SRPX2, ALG13, HUWE1, EBP, EIF2S3, AGTR2, ACSL4, FGD1, FLNA, FMR1, AFF2, GDI1, GK, GPC3, GRIA3, HSD17B10, HCFC1, HMGB3, HNRNPH2, HPRT1, IDS, IGBP1, AP1S2, IL1RAPL1, ABCD1, KCNE5, L1CAM, LAMP2, MAGEA11, MAOA, ARHGEF6, MECP2, MID1, MID2, ARSE, ARSF, MSL3, NDP, NHS, NONO, OPHN1, OTC, PAK3, CDK16, AIFM1, PDHA1, ATRX, PGK1, PIGA, PLP1, POLA1, PQBP1, PRPS1, RBM10
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 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company (Germany).
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)
View the complete list with 1177 more genes
BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, AIMP1, SDCCAG8, SDHA, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SIX6, SKI, DST, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC22A5, BRAF, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC3A1, SLC4A4, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNX3, SOD1, SORL1, SOS1, SOX10, SOX3, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, TAF1, TAF2, TARDBP, TAZ, TBCE, TBX1, TWNK, TCAP, TCF4, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TH, ACO2, TIMM8A, NKX2-1, TK2, TLR3, TLR5, TSPAN7, TNF, ACOX1, TNFSF4, TNNT1, MED12, GIGYF2, TPM2, TPM3, TRAF3, TREX1, TRPS1, TSC1, TSC2, TSFM, CEP41, TSHB, MYOT, TTN, TTPA, TTR, TUBA4A, TUBA8, TWIST1, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UQCRB, USP8, USP9X, KDM6A, VAMP1, VAPB, VAX1, VCP, VDAC1, VEGFA, VHL, VLDLR, BEST1, VRK1, WFS1, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YARS, YWHAE, ZIC2, ZIC3, ACTA1, ZBTB16, ACTA2, ZBTB18, ZNF711, ZNF81, CNBP, ACTB, ARL6, FTSJ1, HDAC8, LPIN1, NSDHL, UNC93B1, VPS35, ATP8A2, ERLIN2, FBXO7, AAAS, GFM1, PRX, CA8, WNT10A, CNTNAP2, FOXP2, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1H, CACNA1S, ANO3, SLC5A7, CACNB4, CACNG2, HDAC4, ARHGEF10, CCDC78, SLC25A20, NSD1, RAB18, CERS1, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, HTRA2, IRX5, ACTG1, SLC25A19, ELOVL4, TMEM237, LPIN2, NPC2, WNK1, ARHGEF9, PINK1, AMN, CAPN3, COG5, ZEB2, DNAJB6, ALX1, CASK, CASR, CAV3, CBL, SHOC2, MBTPS2, DNAJC6, DIAPH3, TSEN34, PUS1, VANGL1, CHCHD10, SETBP1, HPS3, ALG9, LDB3, LRPPRC, KRIT1, ADNP, ZNF335, BSCL2, HPS4, ARFGEF2, ABHD12, PANK2, NDUFAF5, NOP56, PLCB1, SAMHD1, GDAP1, TRIM2, TP63, APTX, SELENON, PCNT, LIMS2, CCT5, DNAJC5, TGM6, YAP1, SLC19A3, PNPLA6, NFU1, UPB1, PARK7, TRIM32, NLRP3, EFHC1, RAB39B, BSND, CD36, KIF1B, SCARB2, CD320, BCAP31, MCEE, CIZ1, ZNF423, COQ8A, LITAF, FIG4, MFN2, CD59, CD96, BCKDK, ERLIN1, PRICKLE1, HPS5, EXOSC8, NIPA1, RAB3GAP1, MLC1, SYNE2, SYNE1, TNPO3, CDON, OPTN, RAB3GAP2, TIRAP, CHSY1, BICD2, CPA6, CENPJ, ZFR, RRM2B, CDK11A, WAC, DTNBP1, BRWD3, TPK1, AASS, ADGRV1, GJC2, ACVRL1, CDH15, KAT6B, NDE1, PORCN, ACY1, PDSS1, TREM2, CD207, EXOSC3, REEP2, TRPM7, TRPM6, FKRP, ARID1B, ARX, TRPV4, TUBGCP6, PHF6, TMCO1, RBFOX1, ALG1, ATP6AP2, TMLHE, ASXL1, TICAM1, HPSE2, SETD2, DEPDC5, ZDHHC9, ATP6V0A2, SPART, RNASEH2A, IER3IP1, LRRK2, COG4, COG6, COG7, COG8, IFT27, CDK5RAP2, NAA10, GRIP1, CNTNAP4, CFL2, RIN2, BBS7, ADAM10, POGZ, ATPAF2, CAMTA1, HPS6, NDUFAF1, KCNT1, MMAA, TDP1, MAGI2, GBA2, AANAT, ASPM, VPS13A, CHAT, FGD4, POMGNT1, TTBK2, CHD2, DOCK8, MTO1, KANK1, MMAB, KIF21A, ALG12, KCNK18, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, DDHD1, POMT2, CISH, SLC25A22, TECPR2, CCDC88C, AARS, TTC8, FLVCR2, GPR143, CHD8, CLCN1, SLC35C1, CLCN2, B3GLCT, CLCNKA, CLCNKB, NUBPL, PRICKLE2, ZDHHC15, VIPAS39, NDUFA11, SPG21, SUMF1, UPF3B, MBD5, CYP2U1, CHD7, CLIC2, SLC9A9, PHF8, TPP1, GNB4, CLN3, CLN5, ZFYVE26, TUBA1A, CLN6, TUBB3, TUBB4A, CLN8, THAP1, BCOR, BLOC1S3, AARS2, NDUFAF4, RNF135, FA2H, ICK, ELOVL5, ANKRD11, SBF2, ABHD5, RARS2, INPP5E, ACAD9, AHI1, NHLRC1, RNASET2, BRAT1, CCM2, CNTN1, LHX4, VPS13B, AGK, COL12A1, COL18A1, KCTD7, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, AP5Z1, COLQ, ADAR, COX10, COX15, COX6A1, COX6B1, GMPPB, NLRP12, CP, PEX26, ABAT, LMBRD1, PDSS2, ALG3, SLC13A5, SYT14, ALG6, ALG2, ALG8, KIRREL3, MYH14, PIGO, ETHE1, CPT2, CR1, FREM1, CRADD, DOLK, CREBBP, DHTKD1, ADCY5, GNE, MED23, PTF1A, MED17, INF2, CRYAB, NDUFA12, KNL1, RNASEH2C, B9D1, CISD2, TACO1, CSF1R, CSF2RB, BOLA3, PLEKHG4, WDR62, TCTN3, MMACHC, CHMP2B, FAM126A, SIL1, EHMT1, EXOC8, FTO, SMC3, FLVCR1, CST3, CSTB, MOGS, VPS37A, CTDP1, TMEM216, MARS2, LRSAM1, CTNNB1, MMADHC, COQ2, CTSD, COQ9, SLC30A10, RNF170, TMEM126A, RAB40AL, ARL13B, C19orf12, ANO10, MTPAP, DARS2, CUL4B, CWF19L1, TTC21B, OFD1, RNASEH2B, MAMLD1, ADK, PGAP1, NHEJ1, TRAPPC11, TCTN2, DCAF17, REEP1, CPLANE1, SRD5A3, CEP63, POMGNT2, CYP11B2, RETREG1, NSUN2, TTC19, PIGV, CYP27A1, TMEM70, TCTN1, CTC1, MTMR14, CSPP1, TTI2, POMK, PIEZO2, BBS10, HEPACAM, CYP7B1, HGSNAT, ZFYVE27, DOK7, WDR81, BBS12, DAG1, NAT8L, C12orf65, FOXRED1, TMEM138, DBT, RBFOX3, DCTN1, DCX, ESCO2, ZCCHC12, DDOST, ACSF3, ANO5, TSEN54, DES, WDPCP, NDUFAF2, BBIP1, CCDC28B, C9orf72, TMEM67, TSEN2, MFSD8, DGUOK, DHCR7, NDUFAF6, B9D2, DHH, FBXO38, MED25, NIPBL, MAGT1, DKC1, WDR45, DLD, WASHC5, ZNF592, RUBCN, DLG3, CEP290, SZT2, IQSEC2, IFT140, CEP135, SMCHD1, ADSL, PLEKHG5, DDHD2, FASTKD2, RPGRIP1L, TBC1D24, SHROOM4, ARHGAP31, CC2D2A, SOBP, DMD, CEP152, ASXL3, EARS2, SH3TC2, NEXMIF, ROGDI, C12orf57, TBL1XR1, DNAH9, UQCRQ, DYNC1H1, DYNC2H1, MTFMT, DNM1L, DNM2, DNMT1, NDUFAF3, COASY, DPAGT1, BBS9, PIK3R5, DPM1, DPM3, POLR3A, HSPB8, STRADA, CRBN, ATP13A2, RFT1, PREPL, DRD2, CC2D1A, DRD3, TUSC3, PNPO, POLR3B, DSC3, KIF7, PRRT2, DNAJC19, SNIP1, SEPSECS, SRPX2, TMEM165, PNPLA2, TUBB2B, TRAPPC9, EFTUD2, ALG13, HUWE1, DYRK1A, WDR48, LINS1, DYSF, TOR1A, EBP, TYMP, AFG3L2, EDN3, AGA, EDNRB, AGL, EEF2, EGR2, ALG11, ARSI, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, AGRN, EIF4G1, ELK1, EMD, EMX2, ENO3, ENTPD1, EOMES, EP300, EPB41L1, COA5, SDHAF1, RNU4ATAC, AGXT, EPM2A, AHCY, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ETFA, ETFB, ETFDH, F2, F5, ACSL4, FADD, FANCB, FBLN5, FCGR2B, FKTN, FGA, FGD1, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, KBTBD13, TMEM231, ISPD, FLNA, FLNC, FLRT1, FMR1, AFF2, FOLR1, FOXG1, FOXP1, AKT1, AKT3, MTOR, ALAD, FXN, FRG1, FTL, FUS, ALDH3A2, ACKR1, FZD9, ALDH4A1, GAA, GABRA1, ALDH5A1, GABRB3, GABRD, GABRG2, GAD1, GALC, B4GALNT1, GALNS, GAMT, GAN, ALDOA, GARS, ALDOB, GATM, GBA, GBE1, GCDH, GCH1, GCSH, GDI1, GDNF, GFAP, GFER, GFPT1, ALMS1, GJB1, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, ALOX5AP, GM2A, GNAL, GNPAT, GNS, ALS2, GOSR2, GP1BA, SETX, GPC3, ALX3, ALX4, AMACR, ADGRG1, TECR, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, GSN, AMPD1, AMPD2, GUSB, GYG1, GYS1, AMT, ABCB7, HSD17B10, HADHA, HADHB, ANG, HCCS, HTT, HERC2, HESX1, HEXA, HEXB, HFE, HINT1, HK1, ANK3, HMGCS2, HNRNPDL, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HRAS, HSD17B4, DNAJB2, HSPB1, HSPB3, HSPD1, HYAL1, NOD2, ICAM1, IDS, IDUA, IFRD1, IGBP1, IGF1, IGHMBP2, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, ABCC8, ELP1, IKBKG, IL11RA, IL1RAPL1, IL1RN, INS, ABCD1, FOXP3, APOE, ITM2B, ITPR1, JRK, APP, KARS, KCNA1, KCNC3, KCND3, KCNE5, KCNJ1, KCNJ10, KCNJ11, KCNK9, KCNMA1, KCNQ2, KCNQ3, KIF1C, KIF5A, KLF8, KIF11, KRAS, AR, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LBR, LDHA, COG1, LGI1, ARG1, LMNA, LMNB1, LRP2, LYZ, LZTFL1, MAG, ABCD4, MAGEL2, MAN1B1, MAOA, ARHGEF6, MAPK10, MAPT, MARS, MASP1, MATR3, MCPH1, MECP2, MEF2C, A2M, MET, MGAT2, MID1, ATXN3, MKKS, MKS1, ARSA, KMT2D, ARSB, ARSE, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, ASAH1, ASCL1, MSX1, MSX2, MTHFR, MTM1, MTMR2, ASL, MTR, MTRR, MUSK, MMUT, ASNS, MVK, MYCN, ASPA, MYF6, MYH7, MYH9, ASS1, MYO5A, NAGA, NAGLU, NBN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA2, NDUFA4, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEDD4L, NEFH, NEFL, NEU1, NF1, NFIX, ATCAY, NGF, NHS, NOG, NOL3, NOS2, NOTCH2, NOTCH3, NPC1, NPHP1, NPHP3, ATIC, ATM, NRAS, NRG1, ATP1A2, NRXN1, ATP1A3, NT5C2, NTRK1, NTRK2, NXF5, FRMD7, OCLN, OCRL, ATP2A1, ATP2A2, OPA1, OPA3, OPHN1, SIGMAR1, ATP2B3, ATP2B4, ATP5F1E, ACACA, ORC1, OTC, BLOC1S6, PAFAH1B1, PAH, PAK3, PRKN, PAX6, PC, PCBD1, ATP7A, ATP7B, PCK2, CHMP1A, PDCD10, AIFM1, ALDH7A1, PDE6D, PDE8B, ACADL, PDHA1, PDK3, ATR, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, ATRX, PEX7, PFKM, KIF1A, PFN1, PGAM2, PGK1, ACADM, PGM1, PHKA1, PHYH, SERPINI1, PIGA, PIGL, PIGN, PIK3CA, PIK3R2, ACADS, PLA2G6, PLEC, PLP1, ACADSB, PMM2, PMP22, PRRX1, PHOX2B, PNKD, PNKP, POLG, POLG2, ACADVL, POMT1, B4GALT1, ACAT1, PPT1, PQBP1, PRKAG2, BAG3, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPS1, HTRA1, PRSS12, PSAP, SLC33A1, PSEN1, PSEN2, TAS2R38, PTCH1, PTEN, PTPN11, BBS1, BBS2, PTS, BBS4, BBS5, NECTIN1, PEX19, PEX2, PEX5, ALDH18A1, PYGM, QARS, QDPR, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, BCKDHA, RAPSN, BCKDHB, RBBP8, RBM10, RBM8A, PRPH2, RELN, RET
Specificity
1 %
Genes
100 %
|
Mental retardation, X-linked type 99.
By Centogene AG - the Rare Disease Company (Germany).
USP9X
Specificity
100 %
Genes
100 %
|
qCarrier Plus.
By Quantitative Genomic Medicine Laboratories, SL (Spain).
RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...)
View the complete list with 278 more genes
RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD, SPG11, SPG7, SUCLA2, SUCLG1, SURF1, SYN1, TAT, TFR2, TH, THRB, TMPRSS3, ACOX1, CD40LG, TNNT1, TPO, TRDN, TSFM, TTPA, TUFM, TULP1, TYR, TYRP1, UGT1A1, USH1C, USH2A, CLRN1, USP9X, FTSJ1, DUOX2, MCOLN1, CDH23, WNT10A, SLC25A20, NLGN4X, NPC2, PCDH15, CAPN3, CASK, CASQ2, LRPPRC, PANK2, GDAP1, STRC, USH1G, WHRN, SLC4A11, SLC45A2, BSND, TMC1, MCEE, HAX1, TRIOBP, SLC39A4, BRWD3, FKRP, ARX, SPART, ADA, LDLRAP1, RAX, CFTR, THOC2, P3H1, MMAB, POMT2, EVC2, RDH12, GPR143, CLCN1, POLR1C, UPF3B, DHDDS, PHF8, TPP1, CLN3, CLN5, ZFYVE26, CLN6, CLN8, CNGA1, CNGB1, CNGB3, EYS, AHI1, CERKL, COL4A4, COL7A1, LMBRD1, CPT1A, ETHE1, CPT2, CRB1, CTH, TMEM216, HOGA1, CTNS, MMADHC, CTSD, ARL13B, CUL4B, ADK, CYP17A1, CYP21A2, CYP27A1, BBS10, HGSNAT, TPRN, DBT, DCX, ACSF3, SLC6A19, TMEM67, MFSD8, DHCR7, DLD, CEP290, IQSEC2, DMD, SH3TC2, DNAH5, GNPTAB, SLC46A1, TMIE, HUWE1, DYSF, AGA, AGL, DUOXA2, AGPS, ABCA4, AGXT, AHCY, ETFA, ETFB, ETFDH, F11, F2, F5, F8, F9, ACSL4, FAH, FANCA, FANCC, AIPL1, AIRE, FKTN, FGD1, FH, FMR1, AFF2, FXN, FTCD, G6PC, G6PD, ALDH4A1, GAA, GALC, GALE, GALK1, GALNS, GALT, ALDOB, GBA, GBE1, GCDH, ABCB11, GDI1, GJB2, GLA, GLB1, GLDC, GNMT, GNRHR, GNS, GRHPR, GRIA3, GUCY2D, AMT, HADHA, HAL, HBA1, HBB, HEXA, HEXB, HJV, HGD, HLCS, HMGCL, IDH3B, IDS, IDUA, AP1S2, IL1RAPL1, IL2RG, ABCD1, IVD, JAK3, KCNJ11, AR, L1CAM, LAMB3, LAMC2, LDLR, LIPA, ARG1, ABCD4, MAN2B1, MCCC1, MCCC2, CHST6, MECP2, MKS1, ARSA, ARSB, MLYCD, MPL, MPP3, MTHFR, MTMR2, ASL, MTRR, MMUT, MVK, ASPA, ASS1, MYO7A, NAGLU, NBN, NDP, NDRG1, NEB, NPC1, NPHP1, NPHS1, ATM, NR2E3, OCRL, OPHN1, OTC, OTOF, PAH, PAK3, PAX8, PC, PCBD1, PCCB, ATP7B, PDE6A, PDHB, SLC26A4, PEX1, PEX10, PEX6, ATRX, PEX7, PGK1, ACADM, SERPINA1, ACADS, PKHD1, PLOD1, PLP1, ACADSB, PMM2, ACADVL, POMT1, POU3F4, ACAT1, PPT1, PQBP1, PROP1, PRPS1, BBS1, BBS2, PTS, BCKDHA, BCKDHB
Specificity
1 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics (United States).
BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...)
View the complete list with 367 more genes
BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2, SLC5A5, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX10, SOX2, SOX3, ATL1, SPR, SPTAN1, SPTLC1, STAT5B, CDKL5, STX11, STXBP1, SUCLG1, BUB1B, SYNGAP1, SYP, TBCE, TBX1, TGIF1, TH, THRB, TINF2, TSPAN7, ACOX1, TSC1, TSC2, CEP41, TTR, TUBA8, TWIST1, UBE2A, UBE3A, USP9X, VLDLR, WRN, XIST, ZIC2, ZBTB16, MRAP, FTSJ1, HDAC8, MCOLN1, NSDHL, GFM1, CNTNAP2, ABCG5, CACNG2, HDAC4, PCDH19, NLGN3, SHANK3, SHANK2, IRX5, NHP2, ELOVL4, NPC2, COG5, ZEB2, CASK, MBTPS2, CBS, NDUFAF5, SAMHD1, PCNT, UPB1, RAB39B, HAX1, PRICKLE1, CPA6, BRWD3, TPK1, CDH15, ACY1, PDSS1, CDKN1C, FKRP, ARID1B, ARX, TMCO1, ATP6AP2, ZDHHC9, COG7, ZFP57, CAMTA1, ASPM, POMGNT1, KIF21A, ALG12, CHRNA4, LYST, CANT1, POMT2, CCDC88C, SLC35C1, UPF3B, MBD5, BRIP1, CHD7, PHF8, TPH2, CLN3, ZFYVE26, TUBA1A, TUBB3, ZBTB24, PDHX, RFX6, AHI1, SATB2, VPS13B, KCTD7, COL1A2, ADAR, CP, GNPTG, LMBRD1, SYT14, ALG6, KIRREL3, PIGO, CRADD, TTC37, MED23, MED17, SLX4, GLYCTK, WDR62, FAM126A, SIL1, EHMT1, FTO, G6PC3, TMEM216, CTNNB1, MMADHC, RAB40AL, DARS2, CUL4B, OFD1, NHEJ1, SRD5A3, NSUN2, PIGV, CYP27A1, TMEM70, CTC1, HEPACAM, UROC1, WDR81, AMER1, DBT, XPNPEP3, D2HGDH, TMEM67, MFSD8, DHCR24, DHCR7, CYB5R3, NIPBL, MAGT1, DLG3, CEP290, IQSEC2, ADSL, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, DYNC1H1, MTFMT, GNPTAB, BBS9, DPYD, CRBN, ATP13A2, CC2D1A, TUSC3, KIF7, SLC46A1, SNIP1, STRA6, SRPX2, TMEM165, CEP57, TUBB2B, TRAPPC9, HUWE1, DYRK1A, EBP, AFP, AGL, EFNB1, ALG11, AGTR2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, F5, ACSL4, FANCG, FBLN5, FBN1, FBN2, FKTN, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FMR1, AFF2, FOXG1, FOXP1, ALDH4A1, GABRG2, GALE, GAMT, GAN, GBA, GBE1, GCK, GDI1, GFAP, GHR, GLI3, GLRA1, GLUL, GM2A, GNAS, GNPAT, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSS, GUSB, GYS2, HSD17B10, HEXB, HOXD10, HPD, HSPD1, IDS, IGBP1, IGF1, IGF1R, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, INSR, ABCD1, ITGA7, KCNJ10, KCNJ11, KCNK9, KCNQ2, KIF5A, KIF11, AQP7, KRAS, AR, L1CAM, LAMA2, LAMP2, LARGE1, LBR, LHX3, LIG4, ARG1, LRP5, MAN1B1, MAN2B1, MANBA, ARHGEF6, MAPT, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MGAT2, MKKS, MOCS2, MPI, MPZ, MTHFR, MTR, MYCN, ASS1, MYO5A, MYO7A, NAGA, NBN, NDP, NDUFA1, NDUFS1, NF1, NGF, NPC1, NPHP3, ATM, ATP1A2, NRXN1, OPHN1, ORC1, PAFAH1B1, PAH, PAK3, PAX6, ATP7A, AIFM1, PDE4D, ATRX, PEX7, KIF1A, PGK1, AUH, PHKA2, PHKG2, AVP, PIGL, AVPR2, PLA2G6, PLP1, POMT1, POU1F1, CTSA, PPOX, ACAT1, PQBP1, PRKAR1A, PRSS12, PTEN, PTPN11, PYCR1, ALDH18A1, PYGL, RAI1, RAPSN, RBBP8, RBM10
Specificity
1 %
Genes
100 %
|
You can check the following sources for additional information.