Buscador de Patologías y Genes

Panel NGS

P00240

Patología

LEUCODISTROFIAS Y LEUCOENCEFALOPATÍAS

306

Genes

AARS, AARS2, ABAT, ABCD1, ACADS, ACO2, ACOX1, ACP5, ACY1, ADAR, ADGRG1, ADSL, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH6A1, AMN, ANK3, AP4B1, AP4E1, AP4M1, AP4S1, ARHGAP31, ARHGEF10, ARSA, ASNS, ASPA, ASXL1, ATP7A, ATP7B, AUH, B3GALNT2, BCS1L, BEST1, BMP4, BOLA3, BRAT1, CBS, CHMP2B, CLCN2, CLN6, COL4A1, COL4A2, COQ2, COQ9, COX10, COX15, COX6B1, COX7B, CPS1, CSF1R, CTC1, CTDP1, CTSA, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS2, DCAF17, DDHD2, DDOST, DEAF1, DGUOK, DHH, DNM1L, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ENTPD1, ERCC2, ERCC3, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FA2H, FAM126A, FARS2, FGD4, FGFRL1, FH, FIG4, FKRP, FKTN, FOLR1, FOXC1, FOXG1, FOXRED1, FUCA1, GAA, GALC, GALT, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJB1, GJC2, GLA, GLB1, GLRX5, GLUL, GLYCTK, GRM7, GRN, GTF2H5, HEPACAM, HEXA, HIBCH, HMGCL, HSD17B4, HTRA1, IDH2, IDS, IDUA, IER3IP1, IFIH1, ITPA, JAM3, KARS, KCNJ10, KCNT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LITAF, LMNB1, LRPPRC, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MLYCD, MOCS1, MOCS2, MPLKIP, MPV17, MPZ, MRPS22, MTFMT, MTHFR, MTHFS, MTTP, MUT, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NPC1, NPC2, NRXN1, NSD2, NUBPL, OCLN, OCRL, OTC, PAFAH1B1, PAH, PANK2, PC, PDHA1, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PIGA, PLA2G6, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMK, POMT1, POMT2, PPT1, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, RANBP2, RBPJ, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, RRM2B, SAMHD1, SBF2, SCO1, SCP2, SDHAF1, SDHB, SDHD, SEPSECS, SERAC1, SH3TC2, SHANK3, SLC16A2, SLC17A5, SLC19A3, SLC25A12, SLC25A22, SLC25A4, SLC33A1, SLC46A1, SLC6A9, SNAP29, SNIP1, SOX10, SPART, SPG11, SPG7, SPTAN1, SQSTM1, STAT1, STXBP1, SUCLA2, SUMF1, SURF1, SYNE1, TACO1, TAF2, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TSC1, TSEN54, TTC19, TUFM, TYMP, TYROBP, UBE2A, UPB1, VCP, WWOX, ZEB2, ZFYVE26, ZNF335

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