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.
Zugehörige Erkrankungen
Primäre Mikrozephalie, autosomal-rezessiv
Seckel-Syndrom, autosomal-rezessiv
Kleinwuchs, mikrozephaler osteodysplastischer primordialer Typ I/Typ II (MOPD1, MOPD2)
Nijmegen-Breakage-Syndrom
LIG4-Syndrom
