NGS Hirnfehlbildungen
Zugehörige Erkrankungen:
Balkenagenesie (Corpus-callosum-Agenesie)
Dandy Walker Malformation
Encephalozele
Holoprosencephalie
Hydrocephalus
Lissencephalie
Makrocephalie
Megalencephalie
Mikrocephalie
Polymicrogyrie
Porencephalie (Einzelgendiagnostik COL4A1)
Schizencephalie
Balkenagenesie (Corpus-callosum-Agenesie) Gen-Panel (44 Gene)
AKT3, ARID1A, ARID1B, ARX, B3GALTL, C12orf57, CDK5RAP2, DISC1, DYNC1H1, EOMES, EPG5, FOXG1, GCSH, GLDC, GPSM2, HCCS, KAL1, KIF7, L1CAM, LRP2, MED12, MID1, NDE1, NFIA, OFD1, OPHN1, PAX6, PDHB, PTCH1, RAB3GAP1, RAB3GAP2, RBM10, SLC12A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SPG11, TUBA1A, TUBB1, TUBB2B, TUBB3, UPF3B, VAX1, ZEB2
Dandy Walker Malformation Gen-Panel (7 Gene)
AP1S2, CDKN1C, FOXC1, LAMC1, NID1, ZIC1
Encephalozele Gen-Panel (6 Gene)
COL18A1, LAMB1, LAMC1, MKS1, NID1, TMEM67
Holoprosencephalie Gen-Panel (9 Gene)
FOXH1, GLI2, PTCH1, SHH, SIX3, SMAD2, TDGF1, TGIF1, ZIC2
Hydrocephalus Gen-Panel (11 Gene)
AKT3, AP1S2, B3GALTL, CCDC88C, GPSM2, L1CAM, MAP2K1, MAP2K2, MPDZ, NFIA, PIK3R2
Lissencephalie Gen-Panel (10 Gene)
ACTB, ACTG1, ARX, DCX, DYNC1H1, PAFAH1B1, RELN, TUBA1A, TUBB2B, VLDLR
Makrocephalie Gen-Panel (5 Gene)
BRWD3, CUL4B, FMR1, KIF7, RAB39B
Megalencephalie Gen-Panel (11 Gene)
AKT3, NF1, NSD1, PIK3CA, PIK3R2, PTEN, RIN2, SHOC2, STRADA
Mikrozephalie Gen-Panel (207 Gene)
AARS, ACBD6, ACTB, ACTG1, AIMP1, ALDH18A1, ALG1, ALG12, ALG3, ALG9, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARID1B, ARNT2, ASNS, ASPM, ASXL3, ATM, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BMP4, BUB1B, CAPN10, CASC5, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CNKSR1, COG1, COG6, COG7, COG8, CREBBP, CTCF, CYB5R3, DCX, DDB2, DEAF1, DHCR7, DHFR, DIAPH1, DKC1, DNM1L, DPAGT1, DPM1, DPP6, DYM, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EIF2AK3, ENTPD1, EP300, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EXOSC3, FARS2, FH, FIG4, FOXG1, FTO, GRIN1, HCCS, HTRA2, IER3IP1, IFIH1, IQSEC2, JARID1C, KAT6B, KCNJ6, KCNQ3, KDM5C, KDM6A, KIAA2022, KIF11, KIF14, KIF5C, LIG4, LINS, MCPH1, MECP2, MED17, MFSD2A, MYCN, NAA10, NBN, NDE1, NGLY1, NHEJ1, NIPBL, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAK3, PCNT, PDHX, PGAP3, PHGDH, PIGA, PIK3R1, PNKP, POGZ, POLH, POMT1, POMT2, PPM1D, PPP2R1A, PQBP1, PYCR1, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS2, RBBP8, RFT1, RIMS3, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNU4ATAC, RPS6KA3, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC25A22, SLC2A1, SLC35C1, SLC9A6, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAP29, SPG20, SPOCK1, SPTAN1, SSR4, STIL, TAF1, TAF2, TBCE, TBL1XR1, TBR2, TCF4, TMEM135, TMEM165, TRAPPC9, TREX1, TRMT10A, TSEN2, TSEN54, TTI2, TUBA1A, TUBB2B, TUBB5, TUBG1, TUBGCP6, UBE3A, UBR1, UNC80, VPS13B, VRK1, WDR45B, WDR62, WWOX, XPA, XPC, ZBTB18, ZBTB40, ZEB2 und ZIC2.
Polymicrogyrie Gen-Panel (20 Gene)
AKT3, COL18A1, DYNC1H1, FH, FIG4, GPSM2, KIAA1279, NSDHL, OCLN, PAX6, PEX1, PIK3R2, RAB3GAP1, RAB3GAP2, SRPX2, TBR2, TUBA8, TUBB2B, TUBB3, WDR62
Schizencephalie Gen-Panel (2 Gene)
SIX3, SHH
Hirnfehlbildungen Gen-Panel (407 Gene)
AARS, ABCC9, ACBD6, ACTB, ACTG1, AIMP1, AKT3, ALDH18A1, ALG1, ALG12, ALG3, ALG9, AMPD2, ANKLE2, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARID1A, ARID1B, ARNT2, ARSB, ARX, ASNS, ASPM, ASXL2, ASXL3, ATM, ATP6V0A2, ATR, ATRX, AUTS2, B3GALNT2, B3GALTL, B3GLCT, B3GNT1, B3GNT2, BCAP31, BCL11A, BCOR, BMP4, BRF1, BRWD3, BUB1B, C12orf57, CAPN10, CASC5, CASK, CC2D2A, CCDC88A, CCDC88C, CCND2, CDC6, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CEP83, CHD8, CIT, CLIC2, CNKSR1, COG1, COG6, COG7, COG8, COL4A1, CRADD, CRB2, CREBBP, CTCF, CUL4B, CYB5R3, DAB1, DAG1, DCC, DCX, DDB2, DEAF1, DENND5A, DHCR24, DHCR7, DHFR, DIAPH1, DISC1, DISP1, DKC1, DLL1, DNM1L, DPAGT1, DPM1, DPP6, DYM, DYNC1H1, DYRK1A, EBP, EFTUD2, EHMT1, EIF2AK3, EML1, EMX2, ENTPD1, EOMES, EP300, EPG5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, EXOSC3, FAM20C, FANCB, FARS2, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMR1, FOXC1, FOXG1, FOXH1, FTO, GAS1, GCM2, GCSH, GFAP, GLDC, GLI2, GLI3, GMPPB, GPR56, GPSM2, GRID2, GRIN1, GTDC2, GUSB, HCCS, HDAC6, HERC2, HRAS, HTRA2, HYLS1, ICK, IDS, IER3IP1, IFIH1, IQSEC2, ISPD, JARID1C, KAL1, KAT6A, KAT6B, KATNB1, KCNJ6, KCNJ8, KCNQ3, KDM5C, KDM6A, KIAA0586, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF5C, KIF7, KNL1, L1CAM, LAMB1, LAMC1, LAMC3, LARGE, LARGE1, LIG4, LINS, LRP2, MAN2B1, MAP2K1, MAP2K2, MCPH1, MECP2, MED12, MED17, MFSD2A, MID1, MKS1, MMACHC, MPDZ, MTM1, MYCN, MYMK, NAA10, NANS, NBN, NDE1, NF1, NFIA, NGLY1, NHEJ1, NID1, NIPBL, NODAL, NOTCH2, NRAS, NSD1, NSDHL, NSUN2, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSTM1, P4HB, PAFAH1B1, PAK3, PAX6, PCNT, PDHB, PDHX, PEX1, PGAP3, PHC1, PHGDH, PI4KA, PIGA, PIGN, PIK3CA, PIK3R1, PIK3R2, PITX2, PLA2G6, PLAT, PLG, PMM2, PNKP, POGZ, POLH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPM1D, PPP2R1A, PPP2R5D, PQBP1, PTCH1, PTCH2, PTEN, PTF1A, PYCR1, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RGS6, RIMS3, RIN2, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNU4ATAC, RPGRIP1L, RPL10, RPS6KA3, RTTN, SAMHD1, SASS6, SEC24D, SEPSECS, SHH, SHOC2, SIX3, SKI, SLC12A6, SLC16A2, SLC25A19, SLC25A22, SLC2A1, SLC35C1, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAP29, SNX10, SPG11, SPG20, SPOCK1, SPTAN1, SRPX2, SSR4, STAMBP, STIL, STRADA, SUFU, SUMF1, SYNE1, TAF1, TAF2, TBC1D24, TBC1D7, TBCE, TBL1XR1, TBR2, TBX15, TCF12, TCF4, TCTN2, TDGF1, TGIF1, TMEM107, TMEM135, TMEM165, TMEM216, TMEM5, TMEM67, TMTC3, TRAPPC9, TREX1, TRMT10A, TSEN2, TSEN34, TSEN54, TTC21B, TTI2, TTR, TUBA1A, TUBA8, TUBB, TUBB1, TUBB2B, TUBB3, TUBB5, TUBG1, TUBGCP6, TWIST1, UBE3A, UBR1, UNC80, UPF3B, USP9X, VAX1, VLDLR, VPS13B, VRK1, WASHC5, WDR4, WDR45B, WDR62, WDR81, WNT3, WWOX, XPA, XPC, ZBTB18, ZBTB20, ZBTB40, ZEB2, ZIC1, ZIC2, ZIC3, ZIC4 und ZNF335.
