NGS Mikrozephalie

Mikrozephalie Gen-Panel (86 Gene)
ALG1, ALG12, ALG3, ARFGEF2, ASNS, ASPM, ATM, ATR, BCOR, BMP4, BRAT1, CASC5, CASK, CDC6, CDK5RAP2, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CREBBP, DDB2, DHCR7, DPAGT1, DPM1, DYM, DYNC1H1, DYRK1A, EFTUD2, EIF2AK3, EP300, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FOXG1, HCCS, IER3IP1, IQSEC2, KIF11, LIG4, MCPH1, MYCN, NBN, NDE1, NHEJ1, NIPBL, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PIGA, PNKP, POLH, PQBP1, RAD50, RBBP8, RIMS3, RNU4ATAC, RPS6KA3, SHH, SIX3, SLC25A19, SLC25A22, SMC1A, SMC3, SNAP29, STIL, TAF2, TUBB2B, TUBGCP6, VRK1, WDR62, WWOX, XPA, XPC, XRCC4, ZBTB18, ZEB2, ZNF335

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