NGS Intrauterine Wachstumsretardierung (IUWR)

Intrauterine Wachstumsretardierung und Proportionierter Kleinwuchs

Zugehörige Erkrankungen
Intrauterine Wachstumsretardierung (IUWR) (zu klein fürs Gestationsalter (SGA))
Proportionierter Kleinwuchs ohne SGA

Nicht-zugehörige Erkrankungen:
Disproportionierter Kleinwuchs (z.b. Skelettdysplasien)

Gen-Panel (250 Gene)
ACAN, ACP5, ACTB, ACTG1, AGPS, AKT1, AKT3, AMMECR1, ANAPC1, ANKH, ANKRD11, ANO5, ARSE, ATR, ATRIP, ATRX, B3GALT6, B3GAT3, BCS1L, BLM, BMP2, BMP4, BMPR1A, BMPR1B, BRAF, BRCA2, BRIP1, BTK, CANT1, CBL, CCDC186, CCDC8, CDC45, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP57, CEP63, CHD7, CHST14, CHST3, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRIPT, CTSK, CUL7, DDR2, DHCR24, DHCR7, DLL3, DNA2, DOK7, DYM, DYNC2H1, EBP, EIF2AK3, EP300, EPHX1, ERCC4, ERCC6, ERCC8, EVC, EVC2, EXT1, EXT2, EYA1, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FOXL2, FOXP4, GDF5, GH1, GHR, GHRH, GHRHR, GHSR, GLI2, GLI3, GNAS, GPC6, GPR161, HDAC8, HES7, HESX1, HMGA2, HRAS, HSPG2, ICK, IFT122, IFT140, IFT172, IFT80, IGF1, IGF1R, IGF2, IGFALS, IGFBP1, IGFBP3, IHH, INSR, INTS1, IRS1, KDM3B, KDM6A, KIF22, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIFR, LIG1, LIG4, LZTR1, MAP2K1, MAP2K2, MATN3, MCM5, MESP2, MMP13, MMP9, MSTO1, MTX2, NBAS, NBN, NEK1, NHLRC2, NIPBL, NKX3-2, NLRP2, NLRP5, NLRP7, NOTCH2, NPR2, NR5A1, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PADI6, PALB2, PAPPA2, PAPSS2, PCNT, PIK3CA, PIK3R1, PIK3R2, PITX2, PLAG1, PLK4, PNPLA6, POC1A, POU1F1, PPP1CB, PRKAR1A, PROKR2, PROP1, PTCH1, PTH1R, PTPN11, RAD21, RAF1, RAP1B, RAPSN, RASA1, RASA2, RBBP8, RIT1, RNPC3, RNU4ATAC, ROR2, RPL10, RPS6KA3, RRAS, RRAS2, RTTN, RUNX2, SAMD9, SH3PXD2B, SHH, SHOC2, SHOX, SHOX2, SIX3, SLC26A2, SLC35D1, SLC39A13, SLX4, SMARCAL1, SMC1A, SMC3, SOS1, SOS2, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAT5B, SULF1, TBCE, TBX19, TBX3, TBX6, TGIF1, THRB, TOP3A, TRIM37, TRIP11, TRPS1, TRPV4, UBE2T, WDR35, WNT5A, WRN, XRCC4, ZFP57 und ZIC2.