Panel de Lisencefalia (Neurología)
ACTB*, ACTG1*, ARX#, ATP6V0A2, CIT, CRADD, DCX, FKTN, ISPD, KATNB1, KIAA1109, LAMB1, LARGE, MACF1, PAFAH1B1, POMGNT2, POMT1, RELN, TMTC3, TUBA1A*, TUBB2B*#, TUBG1*, VLDLR, YWHAE
ACTB*, ACTG1*, ARX#, ATP6V0A2, CIT, CRADD, DCX, FKTN, ISPD, KATNB1, KIAA1109, LAMB1, LARGE, MACF1, PAFAH1B1, POMGNT2, POMT1, RELN, TMTC3, TUBA1A*, TUBB2B*#, TUBG1*, VLDLR, YWHAE
AKT1, AKT3, ASPA, ASXL2, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2*, DNMT3A, EED, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KDM1A, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, MPDZ, NFIB, NFIX, NSD1, OFD1, PIGA*,...
ANO5, B3GALNT2#, BICD2, CAPN3, CAV3, CHKB, COL4A1, COL4A2, CRYAB, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, GOLGA2, INPP5K, ISPD, ITGA7, LAMA2, LARGE, LIMS2, LMNA, MAP3K20, MEGF10, MSTO1*#, MYH7, MYO18B, MYOT, PNPLA2, POGLUT1, POMGNT1, POMGNT2,...
ABCD1*, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1*#, APOPT1, ARSA, ASPA, CLCN2, COA7, COL4A1, COX15, COX6B1, CSF1R, CTC1, CYP27A1, D2HGDH, DARS, DARS2, DEGS1#, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, FA2H, FAM126A, FDX1L, FOLR1,...
ALDH7A1, AMACR, CACNA1H, CACNB4, CASR, CHRNA2, CHRNA4, CHRNB2, CLCN2, DEPDC5, EFHC1, GABRA1, GABRB3, GABRG2#, GRIN2A, KCNA1, KCNC1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL3, POLG, PRRT2, RELN, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A1, STX1B, TBC1D24
ATP13A2, ATP1A3, ATP7B, C19ORF12, CHCHD10, CHCHD2, CP*, CSF1R, DCTN1, DNAJC12, DNAJC5, DNAJC6, FBXO7, FTL, GBA*, GCH1, GRN, LRRK2, MAPT, 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,...
CACNA1S, CLCN1, KCNJ2, SCN4A
ACO2, AFG3L2*, ANTXR1, APTX, ATAD3A*, AUH, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2*, DNAJC19, DNM1L, FDXR, FRMD7, GPR143, HESX1, ISCA2, KIF21A, MECR, MFN2, MGME1, 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,...
KIT, KITLG, LZTR1, NF1*, NF2, PTPN11, RAF1, SMARCB1, SPRED1
AFG3L2*, ASAH1, ATP13A2, BRAT1, CERS1#, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FARS2, FOLR1, GABRB2, GOSR2*, GRN, KCNC1, KCTD7, MFSD8, NEU1, NHLRC1, POLG, PPT1, PRICKLE1, SCARB2, SERPINI1, TBC1D24, TPP1
ACTA1, BIN1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MTM1, MYO18B, NEB*#, TNNT1, TPM2, TPM3*
ATP1A2, ATP1A3, CACNA1A, KCNK18, 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,...
ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1, ANO5, ATP2A1, B3GALNT2#, B4GAT1, C10ORF2, CAPN3, CASQ1, CAV3, CHKB, COQ2, CPT2, CTDP1, DAG1, DGUOK, DMD, DNAJB6, DPM1, DPM2, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FDX1L, FHL1*,...
AKT3, AMPD2, ASPM, ASXL1, ASXL3, ATR, CASK, CCDC47, CDK5RAP2, CENPF, CENPJ, CEP152, CEP63, CSNK2A1, DONSON, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, GPT2, KANSL1*, KATNB1, KIF11, LIG4, MBD5, MCPH1#, MED17, MFSD2A, MIPEP*, MRE11A, MYCN, MYO18B, NCAPD3, NDE1,...
ABAT, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ARG1, BTD, D2HGDH, DHFR*, DNM1L, DPYD, DPYS, ETFA, ETFB, ETFDH, ETHE1, FH, GAMT, GCDH, GCH1, GLDC, GNE, GPHN, HIBCH, L2HGDH, MIPEP*, MOCS1*, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1,...
HESX1, OTX2, PAX6, SOX2*
ADGRG1, AKT3, FH, GPSM2, KIF1BP, LAMC3, NDE1, NSDHL, OCLN*#, PI4KA*, RAB18, SNAP29, SRPX2, TBC1D20, TUBA1A*, TUBA8, TUBB2A*#, TUBB2B*#, TUBB3*, WDR62
ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH*, XPA, XPC
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH*, XPA, XPC
TSC1, TSC2
ABCD1*, AFG3L2*, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1*#, AP5Z1, ARG1, ARL6IP1*, ATAD3A*, ATL1, B4GALNT1, BSCL2, BTD, C12ORF65, C19ORF12, CACNA1G, CAPN1, COASY, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS, DDHD1, DDHD2, ERLIN2, FA2H, FARS2, FXN*, GALC, GBA2, GBE1,...
AARS, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, REEP1, SCO2, SLC5A7, SMN1*#, SMN2*#, TBCE, TRPV4, UBA1, VAPB, VRK1
CDON, FGF8, FGFR1, FOXH1, GLI2, GLI3, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
DMD, EMD, FHL1*, LMNA, TMEM43, TTN*
ABAT, ACTL6B, ADAM22, ADAR, ADPRHL2, ADSL, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, APOPT1, ARHGEF9, ARX#, ASNS*, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1E, CASK, CDKL5, CHD2, CLCN4, CLTC, CNKSR2, CNPY3, CNTNAP2, COX6B1, CPT2, CYFIP2, D2HGDH, DCX, DENND5A, DNM1*,...
ADCY5, ANO3, ATP1A3, BCAP31*, CACNA1B, CACNA1G, DCAF17, DNAJC12, FA2H, FITM2, GCH1, GNAL, KCNMA1, KMT2B, MECR, MIPEP*, 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,...
GAMT, GATM, SLC6A8*
ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, 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,...
AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, FLAD1, GFPT1, LAMB2, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, STIM1, SYT2*
40057, ACAD9, ACADVL, ACTA1, ADCK3, ANO5, ATP2A1, B3GALNT2#, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CASQ1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB6, DPM3, DYSF, EMD, FDX1L,...
AARS, ABAT, ABCA2, ABCD1*, ACTL6B, ACY1, ADAM22, ADAR, ADNP, ADPRHL2, ADSL, AFG3L2*, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, ALG6, ALKBH8, AMACR, AMT, ANKRD11*, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1*#, APOPT1, ARG1, ARHGEF9, ARID1B, ARSA,...
ADCK3, ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, ETFA, ETFB, ETFDH, PDSS1#, PDSS2, SLC25A26
COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3
CCM2, KRIT1, PDCD10, RASA1
40057, AARS, AGTPBP1, AIFM1, AMACR, ARHGEF10, ATAD3A*, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12ORF65, CCT5, CHCHD10, COA7, COX10*, COX6A1, CTDP1, CYP27A1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FBXO38, FGD4,...
ADNP, BCL11A, C12ORF4, CACNA1C*, CC2D1A, CNOT3, CNTN6, COL4A3BP, CSNK2A1, CTNND2, DHCR7, EHMT1, EN2, FBXO11, FOXP1, GAMT, KMT2E, KMT5B, MBOAT7, MECP2, 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,...
AARS2, ABCA2, ABCB7, ABCD1*, ABHD12, ACO2, ADCK3, ADPRHL2, AFG3L2*, AGTPBP1, AHI1, ALDH5A1, ANO10, APTX, ARL13B, ARL6, ATCAY, ATM, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, AUH, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1#, C10ORF2, C12ORF4,...
AARS2, ABCA2, ABCB7, ABCD1*, ABHD12, ACO2, ADCK3, ADPRHL2, AFG3L2*, AGTPBP1, AHI1, ALDH5A1, ANO10, APTX, ARL13B, ARL6, ATCAY, ATM, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, AUH, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1#, C10ORF2, C12ORF4,...
ALS2, ANG, ATL1, BSCL2, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, HNRNPA1*, HSPD1*, KIAA0196, KIF5A, MATR3*, OPTN, PFN1, PRF1, REEP1, SETX, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP*, TIA1, TUBA4A, UBQLN2, VAPB, VCP
