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פאנלים

Neuromuscular Disorders

GC_69

Last update: 31.01.2026

Neuromuscular disorders comprise inherited diseases affecting the motor neuron, peripheral nerve, neuromuscular junction, and skeletal muscle. Because weakness, hypotonia, gait disturbance, fatigability, sensory abnormalities, respiratory involvement, and elevated CK frequently overlap, precise anatomical localization may not be possible at presentation.

This panel includes genes associated with the major categories of inherited neuromuscular disease, including muscular dystrophies, congenital myopathies, congenital myasthenic syndromes, hereditary neuropathies, motor neuron disorders, metabolic myopathies, mitochondrial disorders, and complex multisystem neuromuscular syndromes. Representative genes include DMD, SMN1, SMN2, RYR1, TTN, CAPN3, PMP22, MFN2, GJB1, DOK7, RAPSN, POLG, and mitochondrial DNA genes.

This panel is recommended for patients with complex or mixed neuromuscular phenotypes when the primary site of pathology is uncertain or when a comprehensive first-line genetic evaluation is preferred.
AAAS, AARS1, ABCA1, ABCD1, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACOX1, ACTA1, ACTN2, ADA2, ADCY6, ADGRG6, ADPRS, ADSS1, AFG3L2, AGL, AGRN, AGTPBP1, AGXT, AHCY, AIFM1, ALDH18A1, ALDOA, ALG14, ALG2, AMACR, AMPD1, AMPD2, ANO5, AP1S1, AP5Z1, APOA1, APTX, ARHGAP19, ARHGEF10, ARL6IP1, ARSA, ASAH1, ASCC1, ASCC3, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP2A1, ATP7A, ATP7B, ATXN10, ATXN8, ATXN8OS, B3GALNT2, B4GALNT1, B4GAT1, BAG3, BCKDHB, BET1, BICD2, BIN1, BSCL2, BVES, C10ORF2, C12ORF65, CACNA1B, CACNA1S, CADM3, CAPN1, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CCT5, CD59, CFAP276, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CLCN1, CLP1, CNTN1, CNTNAP1, COA7, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ7, COQ8A, COX10, COX18, COX20, COX6A1, COX6A2, CPOX, CPT2, CRPPA, CRYAB, CTDP1, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DCAF8, DCTN1, DEGS1, DES, DGUOK, DHH, DHTKD1, DHX16, DHX9, DMD, DMXL2, DNAJB2, DNAJB4, DNAJB6, DNAJC3, DNM2, DNMT1, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DSTYK, DTNA, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, EMILIN1, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, EXOSC9, FA2H, FAH, FAM126A, FBLN5, FBXO38, FDX2, FDXR, FGD4, FHL1, FICD, FIG4, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FLVCR1, FXN, FXR1, G6PC1, GAA, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GFER, GFPT1, GGPS1, GJB1, GJC2, GLA, GMPPB, GNB4, GNE, GOLGA2, GOSR2, GSN, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HMGCR, HNRNPA1, HNRNPA2B1, HNRNPDL, HPDL, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KARS1, KBTBD13, KCNA2, KCNJ2, KIF1A, KIF1B, KIF21A, KIF5A, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LETM1, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRIF1, LRP12, LRP4, LRSAM1, LYST, MAG, MAP3K20, MAPK8IP3, MARS1, MATR3, MCM3AP, MED25, MEGF10, MFF, MFN2, MGME1, MICAL1, MICU1, MLIP, MMACHC, MME, MORC2, MPV17, MPZ, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, 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, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTM1, MTMR14, MTMR2, MTRFR, MTTP, MUSK, MYBPC1, MYBPC3, MYF5, MYH14, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NAGA, NARS1, NDC1, NDRG1, NDUFS6, NEB, NEFH, NEFL, NEMF, NFASC, NGF, NPL, NTRK1, NUDT2, OPA1, OPA3, ORAI1, PABPN1, PAX7, PDHA1, PDK3, PDSS2, PDXK, PDYN, PEX10, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PHYH, PIEZO2, PIGB, PIGG, PLA2G6, PLAAT3, PLEC, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA2, PNPLA6, PNPT1, POGLUT1, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PPA2, PPOX, PRDM12, PREPL, PRKAG2, PRKCG, PRNP, PRPS1, PRX, PSMC3, PTPN11, PTRH2, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, RCC1, REEP1, RETREG1, RFC4, RRM2B, RTN2, RXYLT1, RYR1, RYR3, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SCYL1, SELENON, SEPTIN9, SETX, SGCA, SGCB, SGCD, SGCG, SGPL1, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A19, SLC25A20, SLC25A21, SLC25A4, SLC25A42, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMAD3, SMCHD1, SMN1, SMN2, SMPX, SNAP25, SORD, SOX10, SPAST, SPEG, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCE, TCAP, TDP1, TECPR2, TFG, TIA1, TK2, TMEM126B, TMEM43, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRDN, TRIM2, TRIM32, TRIP4, TRMT5, TRPA1, TRPV4, TSFM, TTC19, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, UNC13A, UNC45B, UQCRC1, VAMP1, VAPB, VCP, VDR, VMA21, VPS13A, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, XPNPEP3, XRCC1, YARS1, YARS2, ZC4H2, ZFHX2, ZFYVE26

ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | DMD:[3235708]; [4292852]; [4277362]; [2637520] | GLA:[1678527] | GNE:[4068787] | HADHB:[3359235] | LYST:[3602577] | MEGF10:[3767213] | MME:[3769636] | MYBPC3:[3906261]; [3376667] | SGCB:[4277883] | SMN1:[3906142] | TK2:[3778875]

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