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 (282 Gene)
AARS, ACBD6, ACTB, ACTG1, AIMP1, AKT3, ALDH18A1, ALG1, ALG12, ALG3, ALG9, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARID1B, ARNT2, ARX, ASNS, ASPM, ASXL3, ATM, ATP6V0A2, ATR, ATRX, AUTS2, B3GALTL, B3GNT1, BCAP31, BCL11A, BCOR, BMP4, BRAT1, BRWD3, BUB1B, C12orf57, CAPN10, CASC5, CASK, CDC6, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CNKSR1, COG1, COG6, COG7, COG8, COL18A1, CREBBP, CTCF, CUL4B, CYB5R3, DAG1, DCX, DDB2, DEAF1, DHCR7, DHFR, DIAPH1, DISC1, DKC1, DNM1L, DPAGT1, DPM1, DPP6, DYM, DYNC1H1, DYRK1A, EFTUD2, EHMT1, EIF2AK3, ENTPD1, EP300, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EXOSC3, FARS2, FH, FIG4, FKRP, FKTN, FMR1, FOXC1, FOXG1, FOXH1, FTO, GCSH, GLDC, GLI2, GPR56, GPSM2, GRIN1, GTDC2, HCCS, HTRA2, IER3IP1, IFIH1, IQSEC2, ISPD, JARID1C, KAL1, KAT6B, KCNJ6, KCNQ3, KDM5C, KDM6A, KIAA1279, KIAA2022, KIF11, KIF14, KIF5C, KIF7, L1CAM, LAMB1, LAMC1, LAMC3, LARGE, LIG4, LINS, LRP2, MAP2K1, MAP2K2, MCPH1, MECP2, MED12, MED17, MFSD2A, MID1, MKS1, MYCN, NAA10, NBN, NDE1, NF1, NFIA, NGLY1, NHEJ1, NID1, NIPBL, NSD1, NSDHL, NSUN2, OCLN, OFD1, ORC1, ORC4, ORC6, PAFAH1B1, PAK3, PAX6, PCNT, PDHB, PDHX, PEX1, PGAP3, PHGDH, PIGA, PIK3CA, PIK3R1, PIK3R2, PNKP, POGZ, POLH, POMGNT1, POMT1, POMT2, PPM1D, PPP2R1A, PQBP1, PTCH1, PTEN, PYCR1, QARS, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS2, RBBP8, RBM10, RELN, RFT1, RIMS3, RIN2, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNU4ATAC, RPS6KA3, SEPSECS, SHH, SHOC2, SIX3, SLC12A6, SLC16A2, SLC25A19, SLC25A22, SLC2A1, SLC35C1, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNAP29, SNRPN, SPG11, SPG20, SPOCK1, SPTAN1, SRPX2, SSR4, STIL, STRADA, TAF1, TAF2, TBCE, TBL1XR1, TBR2, TCF4, TDGF1, TGIF1, TMEM135, TMEM165, TMEM67, TRAPPC9, TREX1, TRMT10A, TSEN2, TSEN54, TTI2, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB5, TUBG1, TUBGCP6, UBE3A, UBR1, UNC80, UPF3B, VAX1, VLDLR, VPS13B, VRK1, WDR45B, WDR62, WWOX, XPA, XPC, XRCC4, ZBTB18, ZBTB40, ZEB2, ZIC1, ZIC2 und ZNF335.