X-chromosomale mentale Retardierung
Gen-Panel (118 Gene)
ABCD1, ACSL4, AFF2, AGTR2, AIFM1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLIC2, CNKSR2, CTDP1, CUL4B, DCX, DKC1, DLG3, DMD, EBP, EMD, FAAH2, FAM126A, FANCB, FGD1, FHL1, FLNA, FMR1, FRMPD4, FTSJ1, GAN, GDI1, GK, GPC3, GRIA3, GSPT2, HCCS, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIAA2022, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPL10, RPS6KA3, SHROOM4, SLC12A6, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TAF1, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, WDR13, WDR45, ZCCHC12, ZDHHC15, ZDHHC9, ZNF41, ZNF674, ZNF711, ZNF81
X-chromosomale Gene (komplett) Gen Panel (1007 Gene)
Indikation
Bei Verdacht auf X-chromosomale mentale Retardierung bei mindestens zwei betroffenen männlichen Familienmitgliedern
X-chromosomale Gene (komplett) Gen Liste (1007 Gene)
ABCB7, ABCD1, ACE2, ACOT9, ACRC, ACSL4, ACTRT1, AFF2, AGTR2, AIFM1, AKAP14, AKAP17A, AKAP4, ALAS2, ALG13, AMELX, AMMECR1, AMOT, AP1S2, APEX2, APLN, APOO, APOOL, AR, ARAF, ARHGAP36, ARHGAP4, ARHGAP6, ARHGEF6, ARHGEF9, ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, ARMCX5-GPRASP2, ARMCX6, ARR3, ARSD, ARSE, ARSF, ARSH, ARX, ASB11, ASB12, ASB9, ASMT, ASMTL, ASMTL-AS1, ATG4A, ATP11C, ATP1B4, ATP2B3, ATP6AP1, ATP6AP2, ATP7A, ATRX, ATXN3L, AVPR2, AWAT1, AWAT2, BCAP31, BCOR, BCORL1, BCYRN1, BEND2, BEX1, BEX2, BEX4, BEX5, BGN, BHLHB9, BMP15, BMX, BRCC3, BRS3, BRWD3, BTK, C1GALT1C1, CA5B, CA5BP1, CACNA1F, CAPN6, CASK, CCDC120, CCDC160, CCDC22, CCNB3, CD40LG, CD99, CD99L2, CD99P1, CDK16, CDKL5, CDR1, CDX4, CENPI, CENPVL1, CENPVP2, CETN2, CFP, CHIC1, CHM, CHRDL1, CHST7, CITED1, CLCN4, CLCN5, CLDN2, CLIC2, CNGA2, CNKSR2, COL4A5, COL4A6, COX7B, CPXCR1, CRLF2, CSAG1, CSAG2, CSAG3, CSF2RA, CSTF2, CT45A1, CT45A2, CT45A3, CT45A4, CT45A5, CT45A6, CT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1, CTAG1A, CTAG1B, CTAG2, CTPS2, CUL4B, CXCR3, CXXC1P1, CXorf1, CXorf21, CXorf22, CXorf23, CXorf26, CXorf27, CXorf28, CXorf30, CXorf31, CXorf36, CXorf38, CXorf40A, CXorf40B, CXorf41, CXorf48, CXorf49, CXorf49B, CXorf51A, CXorf51B, CXorf56, CXorf57, CXorf58, CXorf59, CXorf61, CXorf64, CXorf65, CXorf66, CXorf68, CXorf69, CYBB, CYLC1, CYSLTR1, DACH2, DCAF12L1, DCAF12L2, DCAF8L1, DCAF8L2, DCX, DDX26B, DDX3X, DDX53, DGAT2L6, DGKK, DHRSX, DIAPH2, DKC1, DKFZp686D0853, DLG3, DMD, DMRTC1, DMRTC1B, DNASE1L1, DOCK11, DRP2, DUSP21, DUSP9, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, EGFL6, EIF1AX, EIF2S3, ELF4, ELK1, EMD, ENOX2, ERAS, ERCC6L, ESX1, SureSelect_Exomev5, F8, F8A1, F8A2, F8A3, F9, FAAH2, FAM104B, FAM120C, FAM122B, FAM122C, FAM123B, FAM127A, FAM127B, FAM127C, FAM133A, FAM155B, FAM156A, FAM156B, FAM199X, FAM3A, FAM45B, FAM46D, FAM47A, FAM47B, FAM47C, FAM48B1, FAM48B2, FAM50A, FAM58A, FAM70A, FAM9A, FAM9B, FAM9C, FANCB, FATE1, FGD1, FGF13, FGF16, FHL1, FIGF, FLJ44635, FLNA, FMR1, FMR1-AS1, FMR1NB, FOXO4, FOXP3, FOXR2, FRMD7, FRMD8P1, FRMPD4, FTHL17, FTSJ1, FTX, FUNDC1, FUNDC2, G6PD, GAB3, GABRA3, GABRE, GABRQ, GAGE1, GAGE10, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE6, GAGE7, GAGE8, GATA1, GDI1, GDPD2, GEMIN8, GJB1, GK, GLA, GLOD5, GLRA2, GLRA4, GLUD2, GNL3L, GPC3, GPC4, GPKOW, GPM6B, GPR101, GPR112, GPR119, GPR143, GPR173, GPR174, GPR34, GPR50, GPR64, GPR82, GPRASP1, GPRASP2, GRIA3, GRIPAP1, GRPR, GSPT2, GTPBP6, GUCY2F, GYG2, H2AFB1, H2AFB2, H2AFB3, H2BFM, H2BFWT, H2BFXP, HAUS7, HCCS, HCFC1, HDAC6, HDAC8, HDHD1, HDX, HEPH, HMGB3, HMGN5, HNRNPH2, HPRT1, HS6ST2, HSD17B10, HSFX1, HSFX2, HTATSF1, HTR2C, HUWE1, IDH3G, IDS, IGBP1, IGSF1, IKBKG, IL13RA1, IL13RA2, IL1RAPL1, IL1RAPL2, IL2RG, IL3RA, IL9R, INE1, INE2, INGX, IQSEC2, IRAK1, IRS4, ITGB1BP2, ITIH6, ITM2A, JPX, KAL1, KCND1, KCNE1L, KDM5C, KDM6A, KIAA1210, KIAA2022, KIF4A, KLF8, KLHL13, KLHL15, KLHL34, KLHL4, L1CAM, LAGE3, LAMP2, LANCL3, LAS1L, LDOC1, LHFPL1, LINC00086, LINC00087, LINC00102, LINC00204A, LINC00204B, LINC00246A, LINC00246B, LINC00632, LINC00891, LOC100093698, LOC100128420, LOC100129407, LOC100129515, LOC100129520, LOC100129662, LOC100131434, LOC100132163, LOC100132741, LOC100132831, LOC100133123, LOC100133957, LOC100272228, LOC100287765, LOC100288814, LOC100329135, LOC100506757, LOC100507404, LOC100509575, LOC139201, LOC158572, LOC158696, LOC286437, LOC286442, LOC286467, LOC340544, LOC347411, LOC389906, LOC401588, LOC442459, LOC550643, LOC643486, LOC729609, LOC92249, LONRF3, LPAR4, LRCH2, LUZP4, MAGEA1, MAGEA10, MAGEA10-MAGEA5, MAGEA11, MAGEA12, MAGEA2, MAGEA2B, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA9B, MAGEB1, MAGEB10, MAGEB16, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE1, MAGEE2, MAGEH1, MAGIX, MAGT1, MAMLD1, MAOA, MAOB, MAP3K15, MAP7D2, MAP7D3, MBNL3, MBTPS2, MCART6, MCF2, MCTS1, MECP2, MED12, MED14, MGC16121, MID1, MID1IP1, MID2, MIR105-1, MIR105-2, MIR106A, MIR1184-1, MIR1184-2, MIR1184-3, MIR1256, MIR1264, MIR1277, MIR1298, MIR1468, MIR188, MIR18B, MIR1911, MIR1912, MIR19B2, MIR20B, MIR2114, MIR221, MIR222, MIR223, MIR23C, MIR3202-1, MIR3202-2, MIR320D2, MIR362, MIR363, MIR3690, MIR374A, MIR374B, MIR374C, MIR384, MIR3978, MIR421, MIR424, MIR4328, MIR4329, MIR4330, MIR448, MIR450A1, MIR450A2, MIR450B, MIR452, MIR4536-1, MIR4767, MIR4768, MIR4769, MIR4770, MIR500A, MIR500B, MIR501, MIR502, MIR503, MIR504, MIR505, MIR506, MIR507, MIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR514A1, MIR514A2, MIR514A3, MIR514B, MIR532, MIR542, MIR545, MIR651, MIR660, MIR676, MIR718, MIR764, MIR766, MIR767, MIR888, MIR890, MIR891A, MIR891B, MIR892A, MIR892B, MIR92A2, MIR934, MIR98, MIRLET7F2, MMGT1, MORC4, MORF4L2, MOSPD1, MOSPD2, MPP1, MSL3, MSN, MST4, MTCP1, MTCP1NB, MTM1, MTMR1, MTMR8, MTRNR2L10, MUM1L1, MXRA5, NAA10, NAP1L2, NAP1L3, NAP1L6, NDP, NDUFA1, NDUFB11, NGFRAP1, NHS, NHSL2, NKAP, NKAPP1, NKRF, NLGN3, NLGN4X, NONO, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NUP62CL, NXF2, NXF2B, NXF3, NXF4, NXF5, NXT2, NYX, OCRL, ODZ1, OFD1, OGT, OPHN1, OPN1LW, OPN1MW, OPN1MW2, OR13H1, OTC, OTUD5, OTUD6A, P2RY10, P2RY4, P2RY8, PABPC1L2A, PABPC1L2B, PABPC5, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PAK3, PASD1, PCDH11X, PCDH19, PCSK1N, PCYT1B, PDHA1, PDK3, PDZD11, PDZD4, PFKFB1, PGAM4, PGK1, PGRMC1, PHEX, PHF16, PHF6, PHF8, PHKA1, PHKA2, PIGA, PIM2, PIN4, PIR, PIR-FIGF, PJA1, PLAC1, PLCXD1, PLP1, PLP2, PLS3, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6C, PNMA6D, PNPLA4, POF1B, POLA1, PORCN, POU3F4, PPEF1, PPP1R2P9, PPP1R3F, PPP2R3B, PPP2R3B-AS1, PQBP1, PRAF2, PRDX4, PRICKLE3, PRKX, PRPS1, PRPS2, PRRG1, PRRG3, PSMD10, PTCHD1, RAB33A, RAB39B, RAB40A, RAB40AL, RAB41, RAB9A, RAB9B, RAI2, RAP2C, RBBP7, RBM10, RBM3, RBM41, RBMX, RBMX2, RBMXL3, RENBP, REPS2, RGAG1, RGAG4, RGN, RHOXF1, RHOXF2, RHOXF2B, RIBC1, RIPPLY1, RLIM, RNF113A, RNF128, RP2, RPA4, RPGR, RPL10, RPL36A, RPL36A-HNRNPH2, RPL39, RPS26P11, RPS4X, RPS6KA3, RPS6KA6, RRAGB, RS1, S100G, SAGE1, SASH3, SAT1, SATL1, SCARNA23, SCARNA9L, SCML1, SCML2, Sep 06, SERPINA7, SH2D1A, SH3BGRL, SH3KBP1, SHOX, SHROOM2, SHROOM4, SLC10A3, SLC16A2, SLC25A14, SLC25A43, SLC25A5, SLC25A5-AS1, SLC25A6, SLC35A2, SLC38A5, SLC6A14, SLC6A8, SLC7A3, SLC9A6, SLC9A7, SLITRK2, SLITRK4, SMARCA1, SMC1A, SMEK3P, SMPX, SMS, SNORA11, SNORA11C, SNORA11D, SNORA11E, SNORA35, SNORA36A, SNORA56, SNORA69, SNORA70, SNORD61, SNORD96B, SNX12, SOWAHD, SOX3, SPACA5, SPACA5B, SPANXA1, SPANXA2, SPANXA2-OT1, SPANXB1, SPANXB2, SPANXC, SPANXD, SPANXE, SPANXF1, SPANXN1, SPANXN2, SPANXN3, SPANXN4, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SPRY3, SRD5A1P1, SRPK3, SRPX, SRPX2, SSR4, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX6, SSX7, SSX8, STAG2, STARD8, STS, SUV39H1, SYAP1, SYN1, SYP, SYTL4, SYTL5, TAB3, TAF1, TAF7L, TAF9B, TAZ, TBC1D25, TBC1D8B, TBL1X, TBX22, TCEAL1, TCEAL2, TCEAL3, TCEAL4, TCEAL5, TCEAL6, TCEAL7, TCEAL8, TCEANC, TDGF1P3, TEX11, TEX13A, TEX13B, TEX28, TFDP3, TFE3, TGIF2LX, THOC2, TIMM17B, TIMM8A, TIMP1, TKTL1, TLR7, TLR8, TLR8-AS1, TMEM164, TMEM185A, TMEM187, TMEM27, TMEM31, TMEM35, TMEM47, TMLHE, TMSB15A, TMSB15B, TMSB4X, TNMD, TRAPPC2, TREX2, TRMT2B, TRO, TRPC5, TSC22D3, TSIX, TSPAN6, TSPAN7, TSPYL2, TSR2, TTC3P1, TXLNG, UBA1, UBE2A, UBE2DNL, UBE2NL, UBL4A, UBQLN2, UPF3B, UPRT, UQCRBP1, USP11, USP26, USP27X, USP51, USP9X, UTP14A, UXT, VAMP7, VBP1, VCX, VCX2, VCX3A, VCX3B, VENTXP1, VGLL1, VMA21, VSIG1, VSIG4, WAS, WBP5, WDR13, WDR44, WDR45, WNK3, WWC3, XAGE1A, XAGE1B, XAGE1C, XAGE1D, XAGE1E, XAGE2, XAGE2B, XAGE3, XAGE5, XG, XGPY2, XIAP, XIST, XK, XKRX, XPNPEP2, YIPF6, YY2, ZBED1, ZBTB33, ZC3H12B, ZC4H2, ZCCHC12, ZCCHC13, ZCCHC16, ZCCHC18, ZCCHC5, ZDHHC15, ZDHHC9, ZFP92, ZFX, ZIC3, ZMAT1, ZMYM3, ZNF157, ZNF182, ZNF185, ZNF275, ZNF280C, ZNF41, ZNF449, ZNF630, ZNF645, ZNF673, ZNF674, ZNF711, ZNF75D, ZNF81, ZRSR2, ZXDA, ZXDB
