Buscador de Patologías y Genes

Panel NGS

P00345

Patología

DISCAPACIDAD INTELECTUAL GLOBAL

1215

Genes

AAAS, AARS, AARS2, AASS, ABAT, ABCA12, ABCA4, ABCB11, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG5, ABHD12, ABHD5, ACAD10, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACBD6, ACHE, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTA2, ACTB, ACTG1, ACVR1, ACY1, ADA, ADAM10, ADAMTS10, ADAMTS13, ADAMTS2, ADAMTSL2, ADAR, ADCY3, ADCY5, ADGRG1, ADK, ADRA2B, ADSL, AFF2, AFF3, AFG3L2, AGA, AGGF1, AGK, AGL, ago-01, AGO1, AGPAT2, AGRN, AGT, AGTR2, AHI1, AIFM1, AIMP1, AIP, AIPL1, AKAP9, AKT1, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALS2, ALX1, ALX3, ALX4, AMER1, AMN, AMT, ANG, ANK1, ANK2, ANK3, ANKH, ANKRD11, ANKS1A, ANO10, ANTXR1, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOB, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL14EP, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASCC3, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ATCAY, ATIC, ATL1, ATM, ATN1, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP2B3, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATR, ATRNL1, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AURKA, AUTS2, AVP, AVPR1A, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B9D1, B9D2, BAZ1B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCORL1, BCR, BCS1L, BDNF, BEAN1, BEST1, BIN1, BLM, BMP2, BMP4, BMPER, BOLA3, BRAF, BRCA1, BRCA2, BRIP1, BRWD3, BSCL2, BSND, BTD, BUB1, BUB1B, C12orf57, C8orf37, C9orf72, CA2, CA4, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1G, CACNA1H, CACNA2D1, CACNA2D3, CACNB4, CACNG2, CADM1, CADPS2, CAMKMT, CAMTA1, CANT1, CASK, CASP1, CASP2, CASR, CAT, CAV1, CAV3, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC28B, CCDC78, CCDC88C, CCL11, CD96, CDC6, CDH15, CDH23, CDHR1, CDK16, CDK5R1, CDK5RAP2, CDK6, CDKL3, CDKL5, CDKN1C, CDON, CDT1, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CERKL, CFH, CFHR1, CFHR5, CHAT, CHD2, CHD6, CHD7, CHD8, CHKB, CHL1, CHM, CHMP1A, CHMP2B, CHN1, CHRDL1, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNG, CHST14, CHSY1, CIB2, CIC, CISD2, CLCF1, CLCN4, CLCN7, CLCNKB, CLIC2, CLIP2, CLK2, CLMP, CLN3, CLN5, CLN6, CLN8, CLRN1, CLTCL1, CNGA1, CNGB1, CNKSR1, CNKSR2, CNNM2, CNTN4, CNTNAP2, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL6A3, COL9A3, COLQ, COMP, COMT, COQ2, COQ5, COQ6, COQ9, CORO1A, COX10, COX14, COX15, COX6B1, COX7B, CP, CPA6, CPOX, CPS1, CPT1A, CPT2, CRADD, CRB1, CRBN, CREBBP, CRKL, CRLF1, CRX, CSF1R, CSMD1, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTNND2, CTNS, CTSA, CTSD, CTSK, CUBN, CUL3, CUL4B, CYB5R3, CYFIP1, CYP24A1, CYP27A1, CYP2U1, CYP4F22, CYP7B1, D2HGDH, DAG1, DAO, DARS2, DBT, DCAF17, DCTN1, DCX, DDC, DDHD2, DDOST, DDX3X, DEAF1, DHCR24, DHCR7, DHDDS, DIP2B, DIP2C, DIS3L2, DISC1, DISP1, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DLL3, DLX3, DLX5, DMD, DMPK, DNAJC5, DNAJC6, DNM1, DNMT1, DNMT3A, DNMT3B, DOCK3, DOCK4, DOCK6, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPP6, DPYD, DPYS, DRD4, DSCAM, DSG4, DTNBP1, DUOX2, DUOXA2, DYM, DYNC1H1, DYNC2H1, DYRK1A, EBP, ECE1, ECM1, EDA, EDA2R, EDN3, EDNRB, EFHC2, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELK1, ELN, ELOVL4, ELP2, EMG1, EMX2, ENTPD1, EPB41L1, EPC2, EPHA5, EPM2A, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, F9, FA2H, FAAH2, FAM126A, FAM161A, FAM20A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FASN, FASTKD2, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBXO7, FBXW4, FGA, FGD1, FGF14, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLI1, FLNA, FLNB, FLVCR1, FMN2, FMR1, FOLR1, FOXE1, FOXG1, FOXH1, FOXI1, FOXL2, FOXP1, FOXP2, FOXRED1, FRAS1, FREM2, FRMPD4, FRY, FSCN2, FTCD, FTO, FTSJ1, FUCA1, FUS, FXN, G6PC3, G6PD, GAA, GABRA1, GABRB3, GABRD, GABRG1, GABRG2, GAD1, GALC, GALE, GALNS, GALT, GAMT, GAN, GAS1, GATA2, GATA4, GATM, GBA, GBE1, GCDH, GCH1, GCK, GDF3, GDF5, GDF6, GDI1, GDNF, GFAP, GFM1, GHR, GIGYF2, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GK, GLA, GLB1, GLI2, GLI3, GLO1, GLRA1, GLRB, GLUL, GLYCTK, GM2A, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GON4L, GORAB, GOSR2, GPC3, GPC4, GPC6, GPD2, GPHN, GPI, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRM5, GRN, GRPR, GSE1, GSPT2, GSS, GTF2H5, GTF2I, GTF2IRD1, GUCA1B, GUCY2D, GUSB, GYS2, HADH, HAL, HARS2, HAX1, HCCS, HCFC1, HCN1, HCRT, HDAC4, HDAC6, HDAC8, HDX, HEPACAM, HES7, HESX1, HEXA, HEXB, HFE, HGSNAT, HIST3H3, HLCS, HNMT, HNRNPU, HOXA1, HOXD10, HPD, HPRT1, HRAS, HSD17B10, HSPG2, HUWE1, HYAL1, IDS, IDUA, IER3IP1, IGBP1, IGF1, IGF1R, IL1RAPL1, IMMP2L, INPP5E, INSR, IQSEC2, IRX5, ISPD, ITGA7, ITPR1, JAG1, JMJD1C, KANK1, KAT6A, KAT6B, KATNAL2, KCNC3, KCND2, KCNJ1, KCNJ10, KCNJ11, KCNK9, KCNQ2, KCNQ5, KCTD13, KCTD7, KDM5C, KDM6A, KDM6B, KIF11, KIF1A, KIF1BP, KIF21A, KIF5A, KIF7, KIRREL3, KLF8, KMT2D, KMT5B, KNL1, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMC3, LAMP2, LARGE1, LAS1L, LBR, LHX3, LIAS, LIG4, LIMK1, LINS1, LMBRD1, LRP2, LRP5, LRPPRC, LYST, MAF, MAGEL2, MAGT1, MAN1B1, MAN2B1, MANBA, MAOA, MAOB, MAP2K1, MAP2K2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MET, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRAP, MRPS22, MTFMT, MTHFR, MTM1, MTO1, MTR, MTRR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGA, NAGLU, NBEA, NBN, NCKAP1, NCS1, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA12, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEDD4L, NEGR1, NEXMIF, NF1, NFIA, NFIX, NGF, NGLY1, NHEJ1, NHS, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NR1I3, NR2F1, NRAS, NRXN1, NRXN3, NSD1, NSDHL, NSUN2, NTNG1, NTRK1, NUP62, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, ORC1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PANK2, PAX1, PAX3, PAX6, PC, PCBD1, PCCA, PCDH19, PCNT, PDE4D, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PGM1, PHF3, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNP, PNPLA6, PNPO, POGZ, POLG, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PON3, PORCN, POU1F1, PPM1D, PPOX, PPT1, PQBP1, PRICKLE1, PRKAR1A, PRMT7, PRODH, PRPS1, PRSS12, PSAP, PSPH, PTCH1, PTCHD1, PTEN, PTPN11, PTS, PUS1, PYCR1, PYGL, QDPR, QKI, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBFOX1, RBM10, RBM28, RECQL4, RELN, RFT1, RFX6, RIMS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF168, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTTN, RUBCN, SACS, SALL1, SAMHD1, SAR1B, SATB2, SC5D, SCN1A, SCN2A, SCN8A, SCN9A, SCO1, SCO2, SDCCAG8, SDHAF1, SEMA3E, SEPSECS, SERAC1, SETBP1, SETD2, SGCA, SGSH, SH3PXD2B, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIL1, SIX3, SKI, SLC12A6, SLC16A2, SLC17A5, SLC1A1, SLC1A3, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC25A22, SLC2A1, SLC2A2, SLC35A1, SLC35C1, SLC46A1, SLC4A10, SLC4A4, SLC5A2, SLC5A5, SLC6A1, SLC6A19, SLC6A3, SLC6A4, SLC7A7, SLC9A6, SLC9A9, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMOC1, SMPD1, SMS, SNAP25, SNAP29, SNIP1, SOBP, SOS1, SOX10, SOX2, SOX3, SOX5, SPAST, SPATA13, SPECC1L, SPG11, SPR, SPRED1, SPTAN1, SRCAP, SRD5A3, SRGAP3, SRPX2, ST3GAL3, ST3GAL5, STAT5B, STIL, STRA6, STT3A, STT3B, STX11, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYP, SYT14, TACO1, TAF1, TAF2, TAT, TBC1D23, TBC1D24, TBCE, TBL1XR1, TBX1, TBX3, TCF4, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECR, TET1, TFAP2A, TGFBR1, TGFBR2, TGIF1, TH, THOC2, THRB, TIMM8A, TINF2, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMLHE, TPH2, TPK1, TPP1, TRAPPC9, TREM2, TREX1, TRHR, TRIM32, TRIO, TRIP12, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC21B, TTC37, TTC8, TTI2, TTR, TUBA8, TUBB2B, TUBB3, TUBGCP6, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBR1, UMPS, UNC80, UPB1, UPF3B, UQCRQ, UROC1, USP15, USP9X, VCX3A, VLDLR, VPS13B, VPS35, VPS37A, VRK1, WASHC4, WDFY3, WDPCP, WDR13, WDR19, WDR62, WDR81, WNT5A, WWOX, XPA, XPNPEP3, XYLT1, YY1, ZBTB16, ZBTB18, ZBTB24, ZC3H14, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZIC3, ZMYM3, ZNF335, ZNF41, ZNF423, ZNF526, ZNF592, ZNF674, ZNF711, ZNF81

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