CMT demyelinisierend

DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, LITAF, MME, MPZ, MTMR2, NEFL, PMP2, PMP22^M, PRX, SH3TC2, TTR (16 Gene)

CMT axonal

DNM2, GAN, GARS, GDAP1, GJB1, HSPB8, IGHMBP2, INF2, MFN2, MPZ, NEFL, TTR, TRPV4 (13 Gene)

Hereditäre sensorisch-autonome Neuropathien

ATL1, ATL3, DNMT1, NGF, NTRK1, RAB7A, RETREG1, SCN9A, SPTLC1, SPTLC2, TTR, WNK1 (12 Gene)

Neuropathisches Schmerzsyndrom

GLA, SCN10A, SCN11A, SCN9A, TRPA1, TTR (6 Gene)

Erweitertes Gen-Set ^⌂

SEPT9, AARS, ABHD12, AIFM1, AMACR, ARHGEF10, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BSCL2, C12ORF65, CCT5, CHCHD10, COA7, COX10, COX6A1, CTDP1, DCAF8, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNAJB5, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, FXN, GAN, GLA, GARS, GDAP1, GJB1, GJB3, GNB4, GNE, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, MYOT, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PDXK, PLEKHG5, PMP2, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SETX, SGPL1, SH3TC2, SLC12A6, SLC25A46, SMAD3, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TECPR2, TFG, TRIM2, TRPA1, TRPV4, TTR, C10ORF2, TYMP, VCP, WNK1, YARS, ZFYVE26 (123 Gene)

_{Die Charcot-Marie-Tooth-Neuropathie (CMT), auch als erbliche motorische / sensorische Neuropathie (HMSN) bezeichnet, ist die häufigste genetische Ursache für Neuropathien. Die Prävalenz wird auf 1: 3.300 geschätzt. CMT zeichnet sich durch eine breite genetische Heterogenität aus und kann autosomal-dominant, autosomal-rezessiv oder X-chromosomal vererbt werden. CMT-Neuropathie resultiert aus der Beteiligung peripherer Nerven, die das motorische System und / oder das sensorische System beeinflussen können. Menschen mit CMT leiden an einer symmetrischen, langsam fortschreitenden distalen motorischen Neuropathie der Arme und Beine, die gewöhnlich im ersten bis dritten Lebensjahrzehnt beginnt und zu Schwäche und Atrophie der Muskeln in den Füßen und / oder Händen führt. Pes cavus Fußdeformität ist häufig. CMT-Neuropathien können in demyelinisierende und axonale Formen unterteilt werden.}

SEPT9, AARS, ABCB7, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACO2, ACTA1, ACVR1, ADAR, ADCK3, ADCY5, ADGRG1, ADGRG6, ADSS1, AFG3L2, AGL, AGRN, AHCY, AHI1, AIFM1, AIMP1, ALDH18A1, ALDH5A1, ALDOA, ALG14, ALG2, ALS2, AMACR, AMPD1, AMPD2, ANG, ANO10, ANO3, ANO5, ANXA11, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARHGEF10, ARL13B, ARL6, ARL6IP1, ARSA, ASAH1, ASCC1, ATAD3A, ATCAY, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP1A3, ATP2A1, ATP2B3, ATP7A, ATP7B, ATP8A2, ATXN10, ATXN2, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, BICD2, BIN1, BSCL2, BSCL2, BTD, BVES, C10ORF2, C12ORF65, C19ORF12, C5ORF42, C9orf72, CA8, CACNA1A, CACNA1A, CACNA1B, CACNA1E, CACNA1G, CACNA1S, CACNB4, CAMTA1, CAPN1, CAPN3, CASK, CASQ1, CAV1, CAV3, CAVIN1, CC2D2A, CCDC78, CCDC88C, CCT5, CEP290, CEP41, CFL2, CHAT, CHCHD10, CHKB, CHMP2B, CHP1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CIZ1, CLCN1, CLCN2, CLN5, CLN6, CLPP, CNTN1, CNTNAP1, COA7, COASY, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ8A, COX10, COX20, COX6A1, CP, CPT1C, CPT2, CRYAB, CSPP1, CSTB, CTDP1, CTNNB1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS, DARS2, DCAF17, DCAF8, DCC, DCTN1, DCTN2, DES, DGAT2, DGUOK, DHCR24, DHTKD1, DLAT, DMD, DNA2, DNAJB2, DNAJB5, DNAJB6, DNAJC12, DNAJC19, DNAJC5, DNM2, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DSTYK, DYNC1H1, DYSF, EBF3, ECEL1, EEF2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EMD, ENO3, ENTPD1, ERBB3, ERBB4, ERCC5, ERCC6, ERLIN1, ERLIN2, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FA2H, FAM134B, FARS2, FAT2, FBLN5, FBN2, FBXL4, FBXO38, FDX2, FDXR, FGD4, FGF14, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FLVCR2, FMR1, FOLR1, FRRS1L, FTL, FUS, FXN, G6PC, GAA, GALC, GAN, GARS, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GFAP, GFPT1, GJB1, GJB3, GJC2, GLA, GLDN, GLE1, GLRB, GM2A, GMPPB, GNAL, GNAO1, GNB4, GNE, GOLGA2, GOSR2, GRID2, GRM1, GRN, GSS, GYG1, GYS1, GYS2, HACD1, HACE1, HADHA, HADHB, HARS, HARS2, HEXA, HEXB, HIBCH, HINT1, HK1, HNRNPA1, HNRNPA2B1, HOXD10, HPCA, HSPB1, HSPB3, HSPB8, HSPD1, IBA57, IFIH1, IGHMBP2, IKBKAP, INF2, INPP5E, INPP5K, ISCU, ISPD, ITGA7, ITM2B, ITPR1, KARS, KAT6B, KBTBD13, KCNA1, KCNC3, KCND3, KCNE3, KCNJ10, KCNJ18, KCNJ2, KCNJ5, KCNMA1, KDM5C, KIAA0196, KIAA0586, KIAA1109, KIDINS220, KIF1A, KIF1B, KIF1C, KIF5A, KIF7, KLHL40, KLHL41, KLHL9, KMT2B, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA5, LAMB2, LAMP2, LARGE, LARGE1, LARS2, LAS1L, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMNB1, LMOD3, LPIN1, LRP4, LRPPRC, LRSAM1, MAG, MAP3K20, MARS, MARS2, MATR3, MCM3AP, MECR, MED25, MEGF10, MFN2, MGME1, MICU1, MKKS, MKS1, MME, MORC2, MPV17, MPZ, MRE11, MRE11A, MSTN, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTM1, MTMR14, MTMR2, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTPAP, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MTTP, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYO18B, MYO9A, MYOT, MYPN, NAGLU, NALCN, NDRG1, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, NEFH, NEFL, NEK1, NEU1, NGF, NIPA1, NKX2-1, NKX2-5, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NT5C2, NTRK1, NUBPL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORAI1, PABPN1, PAH, PANK2, PAX6, PCYT2, PDE10A, PDE6D, PDGFB, PDGFRB, PDHA1, PDHX, PDK3, PDXK, PDYN, PEX10, PEX2, PEX7, PFKM, PFN1, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PHYH, PIEZO2, PIK3R5, PLA2G6, PLD3, PLEC, PLEKHG5, PLOD2, PLP1, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNPLA2, PNPLA6, POC1B, POGLUT1, POLG, POLG2, POLG2, POLR3A, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R2B, PPP3CA, PRDM12, PREPL, PRF1, PRICKLE1, PRKAG2, PRKCG, PRKN, PRKRA, PRNP, PRPH, PRPS1, PRRT2, PRX, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RARS, RARS2, RBCK1, REEP1, REEP2, RETREG1, RIPK4, RNASEH2B, RNF170, RNF216, RPGRIP1L, RRM2B, RTN2, RUBCN, RXYLT1, RYR1, SACS, SAMD9L, SBF1, SBF2, SCN10A, SCN11A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SCYL1, SELENOI, SELENON, SERAC1, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A1, SLC25A15, SLC25A20, SLC25A4, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC39A14, SLC52A2, SLC52A3, SLC5A7, SLC6A3, SLC9A6, SMAD3, SMCHD1, SMN1, SMN2, SNAP25, SNX14, SOD1, SOX10, SPAST, SPEG, SPG11, SPG20, SPG20, SPG21, SPG7, SPG7, SPR, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, STUB1, SUCLA2, SUCLG1, SURF1, SYNE1, SYNE2, SYT14, SYT2, TAF1, TANGO2, TARDBP, TAZ, TBCE, TBK1, TCAP, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFG, TGFB3, TGM6, TH, THAP1, TIA1, TK2, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM67, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TPP1, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRIP4, TRPA1, TRPC3, TRPM7, TRPV4, TSEN2, TSEN54, TTBK2, TTC19, TTC21B, TTC8, TTN, TTPA, TTR, TUBA4A, TUBB4A, TYMP, UBA1, UBA5, UBAP1, UBQLN2, UCHL1, VAC14, VAMP1, VAPB, VCP, VIPAS39, VLDLR, VMA21, VPS13A, VPS33B, VPS37A, VRK1, WARS1, WDPCP, WDR81, WFS1, WWOX, XK, YARS2, ZBTB42, ZC4H2, ZFYVE26, ZFYVE27, ZNF423 (734 Gene)