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 (900 Gene)
AARS, AARS2, ABAT, ABCC9, ABCD1, ACBD6, ACOX1, ACTB, ACTG1, ACY1, ADAR, ADGRG1, ADK, ADPRHL2, ADSL, AFG3L2, AGA, AHI1, AIMP1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMPD2, AMT, ANKLE2, ANKRD11, AP1S2, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, ARF1, ARFGEF2, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARNT2, ARSA, ARSB, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ASXL2, ASXL3, ATAD1, ATIC, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6V0A2, ATP6V1A, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GLCT, B3GNT1, B3GNT2, B4GALT1, B4GAT1, B9D1, B9D2, BCAP31, BCKDK, BCL11A, BCOR, BMP4, BOLA3, BRAF, BRAT1, BRD4, BRF1, BRWD3, BTD, BUB1B, C12ORF57, C2CD3, CACNA1A, CACNA1E, CAD, CAMK2A, CAMK2B, CAPN10, CARS2, CASC5, CASK, CC2D2A, CCDC115, CCDC88A, CCDC88C, CCND2, CCNO, CDC6, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CDT1, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CEP83, CERS1, CHD2, CHD3, CHD4, CHD7, CHD8, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CIT, CLCN2, CLCN4, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CNKSR1, CNNM2, CNPY3, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL4A1, COL4A2, COQ4, COQ8A, COX10, COX15, COX6B1, CPLANE1, CPLX1, CPT1A, CPT2, CRADD, CRB2, CREBBP, CRPPA, CSF1R, CSNK2A1, CSPP1, CSTB, CTC1, CTCF, CTNNA2, CTNS, CTSA, CTSD, CTSF, CTU2, CUL4B, CUX2, CYB5R3, CYFIP2, CYP27A1, D2HGDH, DAB1, DAG1, DARS, DARS2, DCC, DCHS1, DCX, DDB2, DDOST, DDX3X, DEAF1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DIAPH1, DISC1, DISP1, DKC1, DLL1, DNAJC5, DNM1, DNM1L, DNMT3A, DOCK7, DOLK, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPP6, DPYD, DYM, DYNC1H1, DYRK1A, EARS2, EBP, EED, EEF1A2, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMC1, EML1, EMX2, ENTPD1, EOMES, EP300, EPG5, EPM2A, EPRS, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERMARD, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EXOSC9, EYA1, EZH2, FA2H, FAM126A, FAM20C, FANCB, FARS2, FAT4, FGF12, FGF8, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXH1, FOXJ1, FOXRED1, FRRS1L, FTO, FUCA1, FUT8, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRG2, GALC, GALNS, GAMT, GAN, GAS1, GATM, GBA, GBE1, GCDH, GCH1, GCM2, GCSH, GEMIN4, GFAP, GFM1, GJC2, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLRX5, GLUL, GM2A, GMPPA, GMPPB, GNAO1, GNB1, GNPTAB, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GPR56, GPSM2, GRIA4, GRID2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUSB, HACE1, HCCS, HCN1, HDAC6, HDAC8, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIKESHI, HIST1H1E, HLCS, HMGB3, HNRNPU, HPD, HRAS, HSD17B4, HSPD1, HTRA1, HTRA2, HUWE1, HYAL1, HYLS1, IBA57, ICK, IDH2, IDS, IDUA, IER3IP1, IFIH1, IGF2, INPP5E, IQSEC2, IRF6, ISCA1, ISCA2, ITPA, KAL1, KARS, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ6, KCNJ8, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM5C, KDM6A, KIAA0556, KIAA0586, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF1BP, KIF2A, KIF5A, KIF5C, KIF7, KMT2D, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA2, LAMB1, LAMC1, LAMC3, LARGE≙LARGE1, LGI1, LHX3, LHX4, LIAS, LIG4, LINS, LIPA, LIPT2, LMNB1, LMNB2, LNPK, LRP2, LRPPRC, LYRM7, MAB21L2, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MARS2, MBD5, MBOAT7, MCIDAS, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED17, MEF2C, MFSD2A, MFSD8, MGAT2, MID1, MKS1, MLC1, MLYCD, MMACHC, MOCS1, MOCS2, MOCS3, MOGS, MPDU1, MPDZ, MPI, MPV17, MTFMT, MTHFR, MTHFS, MTM1, MTOR, MYCN, NAA10, NACC1, NAGA, NAGLU, NANS, NARS2, NAXE, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NDUFS1, NDUFV1, NEDD4L, NEU1, NEXMIF, NF1, NFIA, NFIB, NFIX, NFU1, NGLY1, NHEJ1, NHLRC1, NID1, NIN, NIPBL, NKX6-2, NME1, NMNAT2, NODAL, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NRAS, NSD1, NSDHL, NSMCE2, NSUN2, NTRK2, NUBPL, NUP37, NUS1, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSTM1, OTX2, P4HB, PACS2, PAFAH1B1, PAK1, PAK3, PAX6, PC, PCBD1, PCDH19, PCLO, PCNT, PDE6D, PDHA1, PDHB, PDHX, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PHACTR1, PHC1, PHF6, PHGDH, PI4KA, PIBF1, PIGA, PIGC, PIGG, PIGH, PIGL, PIGM, PIGN, PIGO, PIGP, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PIK3R2, PITX2, PLA2G6, PLAA, PLAT, PLCB1, PLEKHG2, PLG, PLK4, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPO, POGZ, POLG, POLH, POLR1C, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPM1D, PPP1CB, PPP1R15B, PPP2R1A, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PQBP1, PRDM8, PRICKLE1, PROP1, PRRT2, PRUNE1, PSAP, PSAT1, PSPH, PTCH1, PTCH2, PTEN, PTF1A, PTS, PURA, PYCR1, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAC3, RAD21, RAD50, RARB, RARS, RARS2, RBBP8, RBM10, RELN, RERE, RFT1, RGS6, RHOBTB2, RIMS3, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF135, ROGDI, RORB, RPGRIP1L, RPL10, RPS6KA3, RTTN, RXYLT1, SAMHD1, SASS6, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCP2, SDHA, SDHAF1, SEC24D, SEPSECS, SERPINI1, SETD2, SGSH, SHH, SHOC2, SIK1, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A19, SLC25A22, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMPD1, SNAP29, SNX10, SOS1, SOX10, SOX11, SOX2, SPG11, SPG20, SPOCK1, SPTAN1, SRD5A3, SRPX2, SSR4, STAMBP, STIL, STN1, STRA6, STRADA, STT3A, STT3B, STX1B, STXBP1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TAF1, TAF2, TARS2, TBC1D20, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBX15, TCF12, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TENM3, TGFB1, TGIF1, TMEM106B, TMEM107, TMEM135, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, MYMK≙TMEM8C, TMTC3, TOE1, TOP3A, TPP1, TRAIP, TRAK1, TRAPPC12, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRMT10A, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TTC21B, TTI2, TTR, TUBA1A, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, MC1R=TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TYMP, TYROBP, UBA5, UBE2A, UBE3A, UBR1, UBTF, UFC1, UFM1, UNC80, UPF3B, USP9X, VARS, VARS2, VAX1, VLDLR, VPS11, VPS13B, VPS33A, VPS53, VRK1, WARS2, WASHC5≙KIAA0196, WDR4, WDR45, WDR45B, WDR62, WDR81, WNT3, WWOX, XPA, XPC, YWHAG, ZBTB18, ZBTB20, ZBTB40, ZEB2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZIC4, ZNF335, ZNF423 und ZNHIT3.
