Surdez

Doença neuromuscular

Lista de Genes
AARS1, ABCA1, ABHD12, ACAD9, ACADM, ACADVL, ACTA1, ACTG2, ADAMTS10, ADCY6, ADGRG6, ADSS1, AGL, AGRN, AIFM1, ALDOA, ALG14, ALG2, ALS2, AMPD1, ANG, ANO5, ANTXR2, ANXA11, ARHGEF10, ASAH1, ASCC1, ASXL1, ATL1, ATL3, ATP13A2, ATP1A1, ATP2A1, ATP7A
B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES
CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CCNF, CCT5, CFL2, CHAT, CHCHD10, CHCHD2, CHKB, CHMP2B, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLTCL1, CNBP, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CTDP1
DAG1, DAO, DCAF8, DCTN1, DES, DGAT2, DHTKD1, DMD, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM2, DPM3, DST, DYNC1H1, DYSF
ECEL1, EGR2, ELP1, ELP3, EMD, ENO3, EPG5, ERBB3, ERBB4, ERCC6, ERCC8, ERLIN1, ETFA, ETFB, ETFDH, EWSR1, EXOSC3, EXOSC8, EXOSC9
FAM126A, FAM20C, FBLN5, FBN2, FBXO38, FGD4, FGFR2, FGFR3, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR1, FUS
GAA, GALC, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLA, GLDN, GLE1, GLT8D1, GMPPB, GNB4, GNE, GRN, GSN, GYG1, GYS1
HACD1, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPDL, HOXD10, HSPB1, HSPB3, HSPB8, HSPG2
IGHMBP2, INF2, INPP5K, IRF6, ISCU, ITGA7
JPH1
KARS1, KAT6B, KBTBD13, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY
LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1
MAP3K20, MAPT, MARS1, MATR3, MB, MED25, MEGF10, MFN2, MICU1, MME, MORC2, MPV17, MPZ, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYMK, MYO18B, MYO9A, MYOT, MYPN
NAGLU, NALCN, NDRG1, NEB, NEFH, NEFL, NEK1, NGF, NTRK1
OPTN, ORAI1
PAX7, PDK3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD1, PLOD2, PLP1, PMP2, PMP22, PNKP, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRDM12, PREPL, PRG4, PRKAG2, PRPH, PRPS1, PRUNE1, PRX, PYGM, PYROXD1
RAB7A, RAPSN, RBCK1, RBM7, REEP1, RETREG1, RIPK4, RNF170, RRM2B, RXYLT1, RYR1, RYR3
SACS, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SCP2, SELENON, SETX, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A6, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMAD3, SMAD4, SNAP25, SOD1, SOX10, SPART, SPAST, SPEG, SPG11, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, SYT2
TAF15, TAFAZZIN, TARDBP, TBCD, TBCE, TBK1, TCAP, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOR1AIP1, TPM2, TPM3, TRAPPC11, TREM2, TRIM2, TRIM32, TRIM63, TRIP4, TRPV4, TSEN54, TSFM, TTN, TTR, TUBA4A, TUBB3, TYMP
UBA1, UBQLN2, UNC13A
VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1
WARS1, WNK1
YARS1
ZC4H2, ZMPSTE24
90 dias
2mL de sangue em tubo com EDTA