Ataxic polyneuropathies, NGS
Detect genetic causes of ataxic polyneuropathies; guide treatment and prognosis.
Genelist (232): AAAS, AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, ALDH18A1, AMACR, AP1S1, AP5Z1, APOA1, APTX, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CCT5, CD59, CFAP276, CHCHD10, CLCF1, CLTCL1, CNTNAP1, COA7, COQ4, COQ7, COX10, COX20, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, CYP7B1, DARS2, DCTN1, DDHD1, DEGS1, DGAT2, DHH, DHTKD1, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FA2H, FAH, FBLN5, FBXO38, FGD4, FGF14, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GJC2, GLA, GM2A, GNB4, GPI, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IBA57, IGF2, IGHMBP2, INF2, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KPNA3, LAMA2, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPC1, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NF2, NGF, NIPA1, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PIEZO2, PLA2G6, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, REEP1, RETREG1, RNF170, RNASEH1, RRM2B, RTN2, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPA1, TRPV4, TSFM, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, VCP, VPS13A, VPS13D, VRK1, VWA1, WARS1, WASHC5, WNK1, XK, XPA, XRCC1, YARS1, ZFYVE26
Featured Review
Detect genetic causes of ataxic polyneuropathies; guide treatment and prognosis.
Genelist (232): AAAS, AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, ALDH18A1, AMACR, AP1S1, AP5Z1, APOA1, APTX, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CCT5, CD59, CFAP276, CHCHD10, CLCF1, CLTCL1, CNTNAP1, COA7, COQ4, COQ7, COX10, COX20, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, CYP7B1, DARS2, DCTN1, DDHD1, DEGS1, DGAT2, DHH, DHTKD1, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FA2H, FAH, FBLN5, FBXO38, FGD4, FGF14, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GJC2, GLA, GM2A, GNB4, GPI, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IBA57, IGF2, IGHMBP2, INF2, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KPNA3, LAMA2, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPC1, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NF2, NGF, NIPA1, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PIEZO2, PLA2G6, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, REEP1, RETREG1, RNF170, RNASEH1, RRM2B, RTN2, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SNAP29, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPA1, TRPV4, TSFM, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, VCP, VPS13A, VPS13D, VRK1, VWA1, WARS1, WASHC5, WNK1, XK, XPA, XRCC1, YARS1, ZFYVE26