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פאנלים
Hereditary ataxia
GC_52
Last update: 16.01.2026
Hereditary ataxias are a heterogeneous group of disorders affecting coordination, balance, gait, speech, and eye movements, most commonly due to cerebellar dysfunction. They may present in childhood or adulthood and may occur as isolated disorders or in association with neuropathy, spasticity, seizures, cognitive impairment, extrapyramidal features, or mitochondrial and metabolic disease.
This panel includes genes associated with the major hereditary ataxia syndromes, including spinocerebellar ataxias, Friedreich ataxia, autosomal recessive cerebellar ataxias, mitochondrial ataxias, ataxia with oculomotor apraxia, and complex syndromic ataxias. Representative genes include FXN, CACNA1A, AFG3L2, SACS, SYNE1, POLG, SETX, SPG7, ATM, and TTPA.
This panel is recommended for patients in whom ataxia or cerebellar dysfunction is the predominant clinical feature, particularly when the inheritance pattern or associated syndrome is unclear or when a comprehensive first-line evaluation is preferred.
AAAS, AARS1, AARS2, ABCA2, ABCB7, ABCD1, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRS, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARL3, ARL6, ARMC9, ARSA, ASL, ATAD3A, ATCAY, ATG7, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP6V0C, ATP7B, ATP8A2, ATXN10, ATXN8, ATXN8OS, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, BRF1, C10ORF2, C12ORF4, C2CD3, C5ORF42, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAD, CAMTA1, CAPN1, CAPRIN1, CASK, CBY1, CC2D2A, CCDC115, CCDC88C, CDK5, CENPF, CEP104, CEP290, CEP41, CHCHD10, CHMP1A, CHMP3, CHP1, CHST14, CHST3, CHST6, CHSY1, CILK1, CLCN2, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, COA7, COASY, COG1, COG3, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ5, COQ8A, COX20, CP, CPLANE1, CRB2, CRNKL1, CRPPA, CSGALNACT1, CSPP1, CSTB, CTBP1, CTDP1, CTSA, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAG1, DAGLA, DARS2, DCC, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHPS, DHRSX, DKC1, DLAT, DLG4, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DYNC1H1, EBF3, EDEM3, EEF2, EEFSEC, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EN1, EOGT, EPM2A, ERCC4, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FAT2, FBXL4, FCSK, FDXR, FEM1C, FGF14, FKRP, FKTN, FLVCR1, FMR1, FOLR1, FRMD5, FTH1, FUT8, FXN, G6PC3, GALC, GALNT2, GALNT3, GBA2, GDAP2, GEMIN5, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GLS, GMPPA, GMPPB, GNE, GORAB, GOSR2, GPAA1, GRID2, GRIK2, GRM1, GRN, GSS, HARS1, HARS2, HEATR5B, HEXA, HEXB, HIBCH, HMBS, HYLS1, IFT74, INPP4A, INPP5E, INTS11, IRF2BPL, ITM2B, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KCNQ3, KIAA0586, KIAA0753, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LARGE1, LARS2, LETM1, LFNG, LIG3, LMNB1, LNPK, LRPPRC, LRRC45, LRSAM1, LSM7, MAG, MAGT1, MAN1B1, MAN2B2, MAPK8IP3, MARS2, MECR, MFN2, MFSD8, MGAT2, MGME1, MINPP1, MKKS, MKS1, MMACHC, MME, MOGS, MORC2, MPDU1, MPI, MRE11, 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, MTCL1, MTFMT, MTPAP, MTTP, MVK, NAA60, NAXE, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NFASC, NGLY1, NHLRC1, NKX2-1, NKX6-2, NOL3, NPC1, NPC2, NPHP1, NPHP3, NPTX1, NUBPL, NUS1, OFD1, OGDHL, OPA1, OPA3, OPHN1, PACS2, PANK2, PAX6, PDE1B, PDHA1, PDYN, PEX10, PEX16, PEX2, PEX3, PEX6, PEX7, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PHYH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PIK3R5, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POC1B, POLG, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PRDM13, PRDX3, PRICKLE1, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTPMT1, PTPN1, PTRH2, PUM1, RAB3A, RARS2, RELN, RFC1, RFT1, RFXANK, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, RUBCN, RXYLT1, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC23B, SEPSECS, SERAC1, SETX, SH3TC2, SIL1, SLC17A5, SLC1A3, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC52A3, SLC9A1, SLC9A6, SMPD4, SNAP25, SNX14, SPART, SPG11, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, STXBP1, SUFU, SUOX, SVBP, SYNE1, SYNGAP1, SYT14, TANGO2, TBC1D23, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TERT, TGM6, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM151A, TMEM165, TMEM199, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TRIM32, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTC8, TTPA, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBTF, UCHL1, UGGT1, UNC13A, VAMP1, VLDLR, VPS13B, VPS13D, VPS41, VPS53, VRK1, VWA3B, WDPCP, WDR73, WDR81, WFS1, WWOX, XRCC1, XYLT1, XYLT2, ZFYVE26, ZNF423, ZNF865, ZSWIM6
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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