Next Generation Sequencing (NGS) register

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MEWIGEN NGS register

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SCN5A, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CAV3, GPD1L, HCN4, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, SCN1B, SCN3B, SCN4B, SNTA1, TRPM4, ABCC9, AKAP9, CACNA2D1, CASQ2, FGF12, GATA5, GATA6, GJA5, KCNA5, KCND2, KCNJ5, KCNJ8, MYL4, NOS1AP, NPPA, NUP155, PKP2, RANGRF, RYR2, SCN10A, SCN2B, SEMA3A, SLMAP, TECRL, TRDN

SCN5A, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, SCN4B, SNTA1, AKAP9, KCNJ5, NOS1AP, TECRL, TRDN

SCN5A, CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE1L, KCNE3, SCN1B, SCN3B, TRPM4, ABCC9, CACNA2D1, FGF12, KCND2, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN2B, SEMA3A, SLMAP

CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1, CACNA2D1

SCN5A, KCNE2, KCNJ2, KCNQ1, SCN1B, SCN3B, SCN4B, ABCC9, GJA5, KCNA5, MYL4, NPPA, NUP155

CALM1, CALM2, CALM3, CASQ2, RYR2, TECRL, TRDN, KCNJ2

ABCC9, ACTC1, ACTN2, ALPK3, ANKRD1, BAG3, CAV3, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EYA4, FHL1, FKTN, FLNC, GLA, ILK, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PKP2, PLN, PPCS, PRDM16, PRKAG2, PSEN1, PSEN2, RAF1, RBM20, RYR2, SCN5A, SGCD, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, MYOM1

CTNNA3, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43, LMNA, DES, PLN, (TTN)

ABCC9, ACTC1, ACTN2, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, EYA4, FKTN, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PPCS, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SGCD, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ANKRD1, LAMP2, TCAP

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FLNC, JPH2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, VCL, ANKRD1, MYOM1, RYR2, GLA, LAMP2

ACTC1, DTNA, LDB3, MIB1, MYBPC3, MYH7, TNNT2, TPM1, PRDM16

TTN

ALS2, ANG, CCNF, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, GRN, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, OPTN, PARK7, PFN1, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP

ANG, CCNF, CHCHD10, CHMP2B, DCTN1, FUS, GRN, MATR3, OPTN, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VCP

ALS2, FUS, SETX, SIGMAR1, SPG11, UBQLN2

ANG, CCNF, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, OPTN, PFN1, SETX, SOD1, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2 (X-dom.), VAPB, VCP

DCTN1, FUS, OPTN, SIGMAR1, SOD1, SPG11, SPG20

AAAS, ABCB7, ABHD12, ADCK3, AFG3L2, ALS2, AP5Z1, APTX, ATCAY, ATM, ATP13A2, c19orf12, CACNA1A, CACNB4, CHCHD10, CYP7B1, DARS2, DNMT1, ECHS1, FA2H, FGF14, FTL, FXN, GBA2, GJC2, GRID2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, MARS2, MRE11, MTPAP, PDYN, PHYH, PLA2G6 , PLEKHG4, PLP1, PNPLA6, POLG, PRKCG, PRNP, PSEN1, RUBCN, SACS, SETX, SIL1, SLC16A2, SLC1A3, SLC2A1, SPG21, SPG7, SPR, SPTBN2, SQSTM1, STUB1, SYNE1, TDP1, TGM6, TH, TMEM240, TTBK2, TTPA, TUBA4A, TWNK, VAMP1, VLDLR, ZFYVE26, ZFYVE27

AFG3L2, CACNA1A, CACNB4, DNMT1, FGF14, GRID2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, PDYN, PLEKHG4, PRKCG, SLC1A3, SPTBN2, STUB1, TGM6, TMEM240, TTBK2

KCNA1, CACNA1A, CACNB4, SLC1A3, ATP1A3

ANO10, APTX, ATM, CYP27A1, FXN, PHYH, PNPLA6, SACS, SETX, SIL1, SYNE1, TTPA, TWNK, ADCK3, ABHD12, ATCAY, GRID2, GRM1, KCNJ10, POLG, RUBCN, SNX14, SPTBN2, SQSTM1, STUB1, TDP1, VLDLR, WFS1

ANO10, APTX, ATM, CYP27A1, FXN, PHYH, PNPLA6, SACS, SETX, SIL1, SNX14, SYNE1, TTPA, TWNK, WFS1

ADCK3, ABHD12, ATCAY, GRID2, GRM1, KCNJ10, POLG, RUBCN, SPTBN2, SQSTM1, STUB1, TDP1, VLDLR

AFG3L2, ALDH18A1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BSCL2, C12orf65, c19orf12, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, GBA2, GJC2, GRID2, HSPD1, WASHC5, KCND3, KIF1A, KIF1C, KIF5A, L1CAM, MARS2, MTPAP, NIPA1, NT5C2, PLA2G6, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SETX, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, ACP33, SPG7, SPR, SYNE1, TFG, TTPA, TUBA4A, VAMP1, ZFYVE26, ZFYVE27

ALDH18A1, ATL1, BSCL2, HSPD1, WASHC5, KCND3, KIF1A, KIF5A, NIPA1, REEP1, REEPA49:B492, RTN2, SLC16A2, SLC33A1, SPAST, SPG7, SPR, TUBA4A, VAMP1, ZFYVE27

AFG3L2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATP13A2, C12orf65, c19orf12, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, GBA2, GJC2, GRID2, KIF1A, KIF1C, L1CAM, MARS2, MTPAP, NT5C2, PLA2G6, PLP1, PNPLA6, REEP2, SACS, SETX, SPG11, SPG20, ACP33, SPG7, SPR, SYNE1, TFG, TTPA, ZFYVE26

ANG, APP, ATP13A2, c19orf12, CHCHD10, CHMP2B, DCTN1, FTL, FUS, GBA, GBA2, GRN, ITM2B, LRRK2, MAPT, MATR3, NOTCH3, OPTN, PINK1, PLA2G6, PARK2, PRNP, PSEN1, PSEN2, SIGMAR1, SNCA, SPAST, ACP33, SQSTM1, TARDBP, TBK1, TOMM40, TREM2, TUBA4A, UBQLN2, VCP

ATP6AP2, ATP10B, ATP13A2, DNAJC6, FBXO7, LRRK2, DJ1, PINK1, PLA2G6, PARK2, SLC6A3, SNCA, TMEM230, VPS35

HPCA, ATP1A3, ECHS1, FTL, GCH1, GNAL, MECR, MR1, PRKRA, PRRT2, SGCE, SLC2A1, SPR, ANO3, TH, KCTD17, KMT2B, PLA2G6, PRKN, SLC6A3, SLC30A10, TIMM8A, THAP1, TOR1A, TUBB4A, VPS16

ATP1A2, ATP1A3, CACNA1A, GLA, PRRT2, SCN1A, SLC2A1

GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3CT2, SORD

AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BSCL2, CHCHD10, CNTNAP1, COA7, COX6A1, DCTN1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GDAP1, GARS1, GNB4, GJB1, HARS1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SACS, SBF1, SBF2, SH3CT2, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, TTR, VCP, WARS1, YARS1

ABHD12, ARHGEF10, CNTNAP1, COX6A1, DNM2, EGR2, FBLN5, FGD4, FIG4, GDAP1, GNB4, GJB1, INF2, LITAF, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP2, PMP22, PRX, SBF1, SBF2, SH3CT2, SORD, SURF1, YARS1

AARS1, AIFM1, ATP1A1, ATP7A, BSCL2, CHCHD10, COA7, COX6A1, DNAJB2, DNM2, DNMT1, DYNC1H1, GAN, GARS1, GDAP1, GNB4, GJB1, HARS1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, NEFH, NEFL, PLEKHG5, PRPS1, RAB7A, SACS, SORD, SPG11, SPTLC1, TFG, TRIM2, TRPV4, TTR, VCP, WARS1, YARS1

FBN1, COL1A1, COL3A1, COL5A1, COL5A2, FLNA, PLOD1, SMAD3, TGFB2, TGFB3, SMAD2, TGFBR1, TGFBR2, BGN, FBN2, SKI, ACTA2, FOXE3, LOX, MYH11, MYLK, MFAP5, MAT2A, PRKG1, GATA5, NOTCH1, SMAD6, ROBO4, EFEMP2, ELN, SLC2A10, FBLN5, COL4A5, SMAD3, SMAD4, MED12

FBN1, TGFBR1, TGFBR2

FBN1, FBN2, SKI, ADAMTSL4, ADAMTS10, ADAMTS17, LTBP2, MED12

COL1A1, COL3A1, COL5A1, COL5A2, FLNA, PLOD1, SLC2A10, COL1A2, ADAMTS2, FKBP14, TNXB, COL12A1, B4GALT7, B3GALT6, CHST14, DSE, C1R, C1S, SLC39A13, ZNF469, PRDM5, AEBP1

SMAD3, TGFB2, TGFB3, SMAD2, TGFBR1, TGFBR2

EFEMP2, ELN, FBLN5, ATP6V1A, ATP6V0A2, PYCR1, ATP6V1E1, LTBP4, ALDH18A1

GATA5, NOTCH1, SMAD6, ROBO4, TAB2

ACTA2, FBN1, ACTB, B3GALT6, BBS2, FBN2, FLNA, IFT122, LOX, MYH7, RPL26, SGO1, TGFBR1, TGFBR2, NKX2-5, KCNJ2, COL3A1

EFEMP2, COL4A1, COL4A2, ATP7A

ADAMTS10, ADAMTS17, FBN1, LTBP2

COL1A1, COL1A2

NOTCH3, HTRA1, CTSA, COL4A1, COL4A2, APP, GLA, HTRA1, ITM2B

PROS1, PROC, SERPINC1

COL4A3, COL4A4, COL4A5

CFTR, PRSS1, SPINK1

ABCB11, ABCB4, ATP8B1

BRAF, KRAS, MAP2K1, NRAS, PTPN11, RAF1, RIT1, SOS1
(sequencing of CBL, SHOC2, SPRED1 possible)

BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SOS1

(sequencing of CBL, SHOC2, SPRED1 possible)

BRAF, KRAS, MAP2K1, MAP2K2

BRAF, RAF1, PTPN11

GNRHR, FGFR1, ANOS1, PROKR2, PROK2, KISS1, KISS1R, NDNF, NSMF, FGF8, FGF17, CHD7, TAC3, TACR3, LHB, GNRH1, WDR11, IL17RD, SOX10, HS6ST1, SEMA3A, LEP, LEPR

AMH, AMHR2, BMP15, CLPP, CYP11B1, FIGLA, FOXL2, FSHB, FSHR, GDF9, HARS2, HFM1, LARS2, LHCGR, MCM8, NANOS3, NOBOX, NR5A1, PGRMC1, POF1B, STAG3, TWNK, WT1

BMP15, FIGLA, FSHB, GDF9, HFM1, MCM8, NOBOX, NR5A1, POF1B, STAG3

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2

BRCA2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI

ERCC4, FANCL, FANCM, PALB2, RAD51, RAD51C, SLX4, XRCC2, BRIP1

KIT, NF1, PDGFRA, SDHB, SDHC, SDHD

PMS1, POLD1, POLE, MSH3

MLH1, MSH2, MSH6, PMS2, EPCAM (CNV only)

MEN1, RET, CDKN1B

MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

APC, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE

BMPR1A, PTEN, SMAD4, STK11

FH, FLCN, MET, SDHB, SDHC, SDHD, VHL

TSC1, TSC2

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC

LDLR, APOB, PCSK9, LDLRAP1

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PASK, PAX4, PDX1, RFX6

MEFV, MVK, NLRP3, TNFRSF1A, ADA2, NOD2, PSTPIP1, TNFAIP3, NLRP12