Leukodystrophy, NGS
Detect genetic mutations causing leukodystrophy; clinical management and prognosis.
Genelsit (535): AARS1, AARS2, ABAT, ABCA1, ABCD1, ACADS, ACBD5, ACER3, ACOX1, ACP5, ADA, ADAR, ADGRG1, ADH5, ADK, ADSL, AFG2A, AGA, AHDC1, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH6A1, ALOX5AP, AMPD2, ANK3, AP4B1, AP4E1, AP4M1, AP4S1, APOA1BP, APOE, APOPT1, APP, AQP4, ARCN1, ARHGAP31, ARSA, ARSL, ASNS, ASPA, ASXL1, ASXL2, ATM, ATP11A, ATP1B1, ATP7A, ATP7B, AUH, B3GALNT2, BCAP31, BCL11B, BCS1L, BEST1, BMP4, BOLA3, BPTF, BRAT1, C11orf73, C2CD3, CACNA1A, CAPN3, CARS2, CAV1, CBS, CCDC88A, CD40LG, CHMP2B, CIC, CLCN2, CLDN11, CLIP1, CLN6, CLN8, CLP1, CLPP, CNBP, CNNM2, CNP, CNTNAP1, COA7, COA8, COL4A1, COL4A2, COLGALT1, COQ2, COQ9, COX10, COX15, COX6B1, COX7B, CPLX1, CPS1, CRIPT, CRLF1, CSF1R, CTBP1, CTC1, CTNS, CTSA, CYB5R3, CYP17A1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DDC, DDHD2, DEAF1, DEGS1, DGUOK, DHFR, DHH, DLL3, DLL4, DMXL2, DNM1L, DNM2, DOCK6, DONSON, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2AK1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EOGT, EPRS, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, F2, F5, FA2H, FADD, FAM126A, FARS2, FARSB, FBP2, FBXL4, FDFT1, FDX1L, FDX2, FGD4, FGFRL1, FH, FKRP, FKTN, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, GAA, GALC, GALT, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB1, GJB2, GJC2, GLA, GLB1, GLRX5, GLUL, GLYCTK, GMNN, GMPPB, GNAO1, GNPTAB, GPR56, GPRC5B, GRM7, GRN, GUSB, H3-3B, HACE1, HEPACAM, HEXA, HIBCH, HIKESHI, HLA-DQB1, HLA-DRB1, HMGCL, HNRNPU, HPCA, HSD17B4, HSPD1, HTR2A, HTRA1, HYCC1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INTS11, ISCA1, ISCA2, ITPA, JAG1, JAM3, KARS1, KCNJ10, KCNN2, KCNT1, KDM1A, KIAA0586, KIF5A, KLHL15, KPTN, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LARS2, LAT, LETM1, LIAS, LIG3, LIPT1, LIPT2, LMNB1, LONP1, LRPPRC, LYRM7, MAG, MAGT1, MAPT, MARCHF3, MARS2, MAT1A, MCCC1, MCOLN1, MED17, MEF2C, MGP, mLC1, mLYCD, MMACHC, MMUT, MOCS1, MOCS2, MPV17, MPZ, MRPL44, MRPS22, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTTP, MYRF, NACC1, NADK2, NAXD, NAXE, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NEK1, NEU1, NFE2L2, NFU1, NGLY1, NKX6-2, NMNAT1, NOS3, NOTCH1, NOTCH2NLC, NOTCH3, NPC1, NPC2, NSD2, NT5C2, NUBPL, NUTM2B-AS1, OBFC1, OCLN, OCRL, OMG, OSBPL11, OSGEP, OTC, PAFAH1B1, PAH, PC, PCDH12, PDCD1, PDHA1, PDSS1, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PI4KA, PIGA, PIGP, PLAA, PLEKHG2, PLP1, PLXNA1, PMP22, PMPCB, PNPT1, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, POMGNT1, POMT1, POMT2, POT1, PPFIBP1, PPP1R15B, PPP2R1A, PPP3CA, PPT1, PRF1, PRKCH, PRKDC, PRORP, PRPS1, PRX, PSAP, PSAT1, PSEN1, PTEN, PURA, PUS3, PYCR2, QARS, QARS1, RAC1, RARS1, RBM8A, RBPJ, REEP1, RERE, RHOA, RIN2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNF220, RNU7-1, RPIA, RPS6KC1, RRM2B, SAMD9, SAMHD1, SASH3, SCO1, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SH3TC2, SHPK, SLC12A5, SLC13A3, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC35A2, SLC35B2, SLC44A1, SLC46A1, SLC6A8, SLC6A9, SMG9, SNAP29, SNIP1, SNORD118, SNRPB, SNTA1, SON, SOX10, SOX2, SPART, SPATA5, SPG11, SPG20, SPG21, SPG7, SPTAN1, SSR4, STAMBP, STAT1, STN1, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYNE1, TACO1, TAF2, TARS2, TBCD, TBCE, TBCK, TGFB1, TIMMDC1, TM4SF20, TMEM106B, TMEM126B, TMEM147, TMEM163, TMEM165, TMEM63A, TMEM70, TMTC3, TNR, TP53RK, TRAPPC11, TREM2, TREX1, TRMT5, TRPV4, TSC1, TSEN54, TTC19, TTC7B, TUBB2A, TUBB4A, TUFM, TWNK, TXN2, TYMP, TYROBP, UBE2A, UBTF, UFM1, UGT1A1, UNC13D, UPB1, VARS2, VCP, VPS11, VPS33A, WARS1, WARS2, WDR73, WWOX, YARS1, YME1L1, YY1, ZFYVE26, ZNF335, ZNHIT3
Featured Review
Detect genetic mutations causing leukodystrophy; clinical management and prognosis.
Genelsit (535): AARS1, AARS2, ABAT, ABCA1, ABCD1, ACADS, ACBD5, ACER3, ACOX1, ACP5, ADA, ADAR, ADGRG1, ADH5, ADK, ADSL, AFG2A, AGA, AHDC1, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH6A1, ALOX5AP, AMPD2, ANK3, AP4B1, AP4E1, AP4M1, AP4S1, APOA1BP, APOE, APOPT1, APP, AQP4, ARCN1, ARHGAP31, ARSA, ARSL, ASNS, ASPA, ASXL1, ASXL2, ATM, ATP11A, ATP1B1, ATP7A, ATP7B, AUH, B3GALNT2, BCAP31, BCL11B, BCS1L, BEST1, BMP4, BOLA3, BPTF, BRAT1, C11orf73, C2CD3, CACNA1A, CAPN3, CARS2, CAV1, CBS, CCDC88A, CD40LG, CHMP2B, CIC, CLCN2, CLDN11, CLIP1, CLN6, CLN8, CLP1, CLPP, CNBP, CNNM2, CNP, CNTNAP1, COA7, COA8, COL4A1, COL4A2, COLGALT1, COQ2, COQ9, COX10, COX15, COX6B1, COX7B, CPLX1, CPS1, CRIPT, CRLF1, CSF1R, CTBP1, CTC1, CTNS, CTSA, CYB5R3, CYP17A1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DDC, DDHD2, DEAF1, DEGS1, DGUOK, DHFR, DHH, DLL3, DLL4, DMXL2, DNM1L, DNM2, DOCK6, DONSON, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2AK1, EIF2AK2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EOGT, EPRS, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, EXOSC8, F2, F5, FA2H, FADD, FAM126A, FARS2, FARSB, FBP2, FBXL4, FDFT1, FDX1L, FDX2, FGD4, FGFRL1, FH, FKRP, FKTN, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, GAA, GALC, GALT, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB1, GJB2, GJC2, GLA, GLB1, GLRX5, GLUL, GLYCTK, GMNN, GMPPB, GNAO1, GNPTAB, GPR56, GPRC5B, GRM7, GRN, GUSB, H3-3B, HACE1, HEPACAM, HEXA, HIBCH, HIKESHI, HLA-DQB1, HLA-DRB1, HMGCL, HNRNPU, HPCA, HSD17B4, HSPD1, HTR2A, HTRA1, HYCC1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, INTS11, ISCA1, ISCA2, ITPA, JAG1, JAM3, KARS1, KCNJ10, KCNN2, KCNT1, KDM1A, KIAA0586, KIF5A, KLHL15, KPTN, L2HGDH, LAGE3, LAMA1, LAMA2, LAMB1, LARS2, LAT, LETM1, LIAS, LIG3, LIPT1, LIPT2, LMNB1, LONP1, LRPPRC, LYRM7, MAG, MAGT1, MAPT, MARCHF3, MARS2, MAT1A, MCCC1, MCOLN1, MED17, MEF2C, MGP, mLC1, mLYCD, MMACHC, MMUT, MOCS1, MOCS2, MPV17, MPZ, MRPL44, MRPS22, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTTP, MYRF, NACC1, NADK2, NAXD, NAXE, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NEK1, NEU1, NFE2L2, NFU1, NGLY1, NKX6-2, NMNAT1, NOS3, NOTCH1, NOTCH2NLC, NOTCH3, NPC1, NPC2, NSD2, NT5C2, NUBPL, NUTM2B-AS1, OBFC1, OCLN, OCRL, OMG, OSBPL11, OSGEP, OTC, PAFAH1B1, PAH, PC, PCDH12, PDCD1, PDHA1, PDSS1, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PI4KA, PIGA, PIGP, PLAA, PLEKHG2, PLP1, PLXNA1, PMP22, PMPCB, PNPT1, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, POMGNT1, POMT1, POMT2, POT1, PPFIBP1, PPP1R15B, PPP2R1A, PPP3CA, PPT1, PRF1, PRKCH, PRKDC, PRORP, PRPS1, PRX, PSAP, PSAT1, PSEN1, PTEN, PURA, PUS3, PYCR2, QARS, QARS1, RAC1, RARS1, RBM8A, RBPJ, REEP1, RERE, RHOA, RIN2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNF220, RNU7-1, RPIA, RPS6KC1, RRM2B, SAMD9, SAMHD1, SASH3, SCO1, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SH3TC2, SHPK, SLC12A5, SLC13A3, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A4, SLC35A2, SLC35B2, SLC44A1, SLC46A1, SLC6A8, SLC6A9, SMG9, SNAP29, SNIP1, SNORD118, SNRPB, SNTA1, SON, SOX10, SOX2, SPART, SPATA5, SPG11, SPG20, SPG21, SPG7, SPTAN1, SSR4, STAMBP, STAT1, STN1, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYNE1, TACO1, TAF2, TARS2, TBCD, TBCE, TBCK, TGFB1, TIMMDC1, TM4SF20, TMEM106B, TMEM126B, TMEM147, TMEM163, TMEM165, TMEM63A, TMEM70, TMTC3, TNR, TP53RK, TRAPPC11, TREM2, TREX1, TRMT5, TRPV4, TSC1, TSEN54, TTC19, TTC7B, TUBB2A, TUBB4A, TUFM, TWNK, TXN2, TYMP, TYROBP, UBE2A, UBTF, UFM1, UGT1A1, UNC13D, UPB1, VARS2, VCP, VPS11, VPS33A, WARS1, WARS2, WDR73, WWOX, YARS1, YME1L1, YY1, ZFYVE26, ZNF335, ZNHIT3