top of page
פאנלים
Hereditary neuropathy
GC_53
Last update: 16.01.2025
Hereditary neuropathies are inherited disorders affecting the peripheral motor, sensory, and autonomic nerves. Clinical manifestations include distal weakness, sensory loss, reduced reflexes, pes cavus, gait abnormalities, neuropathic pain, and progressive motor impairment, with onset ranging from infancy to adulthood.
This panel includes genes associated with the major inherited peripheral neuropathies, including Charcot-Marie-Tooth disease, hereditary motor neuropathy, hereditary sensory and autonomic neuropathy, mitochondrial neuropathy, and complex multisystem neuropathies. Representative genes include MFN2, MPZ, GJB1, GDAP1, HSPB1, HSPB8, NEFL, MORC2, MME, INF2, and mitochondrial DNA genes.
This panel is recommended for patients with suspected hereditary peripheral neuropathy, particularly when clinical features overlap multiple neuropathy subtypes or when syndromic involvement is present.
AAAS, AARS1, ABCA1, ABCD1, ABHD12, ACOX1, ADA2, ADCY6, ADGRG6, ADPRS, AFG3L2, AGTPBP1, AGXT, AIFM1, ALDH18A1, AMACR, AMPD2, AP1S1, AP5Z1, APOA1, APTX, ARHGAP19, ARHGEF10, ARL6IP1, ARSA, ASAH1, ATAD3A, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP7A, ATP7B, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, C12ORF65, CADM3, CAPN1, CCT5, CD59, CFAP276, CHCHD10, CLP1, CNTNAP1, COA7, COQ7, COX10, COX18, COX20, COX6A1, CPOX, CTDP1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF8, DCTN1, DEGS1, DGUOK, DHH, DHTKD1, DHX9, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DSTYK, DYNC1H1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, EXOSC3, EXOSC9, FA2H, FAH, FAM126A, FBLN5, FBXO38, FDXR, FGD4, FICD, FIG4, FLVCR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GJC2, GLA, GNB4, GNE, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HPDL, HSPB1, HSPB3, HSPB8, IARS2, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KCNA2, KIF1A, KIF1B, KIF21A, KIF5A, LAS1L, LDB3, LITAF, LMNA, LRP12, LRSAM1, LYST, MAG, MAPK8IP3, MARS1, MCM3AP, MED25, MFF, MFN2, MICAL1, MMACHC, MME, MORC2, MPV17, MPZ, 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, MTMR2, MTRFR, MTTP, MYH14, MYOT, NAGA, NARS1, NDC1, NDRG1, NDUFS6, NEFH, NEFL, NEMF, NFASC, NGF, NTRK1, NUDT2, OPA1, OPA3, PDHA1, PDK3, PDXK, PDYN, PEX10, PEX7, PHYH, PIEZO2, PIGB, PIGG, PLA2G6, PLAAT3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLR3A, POLR3B, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PSMC3, PTPN11, PTRH2, RAB7A, RCC1, REEP1, RETREG1, RTN2, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A21, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMAD3, SMN1, SMN2, SORD, SOX10, SPAST, SPG11, SPG7, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TBCE, TDP1, TECPR2, TFG, TRIM2, TRMT5, TRPA1, TRPV4, TTC19, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, UQCRC1, VAPB, VCP, VPS13A, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, XPNPEP3, XRCC1, YARS1, ZFHX2, ZFYVE26
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
bottom of page