Macrocephaly, NGS
Identify genetic variants associated with macrocephaly; differential diagnosis and counseling.
Genelist (205): ABCC9, ADK, AKT1, AKT2, AKT3, ANKH, APC2, ARSB, ASPA, ASXL2, B4GALT1, B4GALT7, BLTP1, BRAF, BRSK2, BRWD3, BUB1B, CCND2, CCNK, CDKN1C, CEP120, CEP55, CHD3, CHD4, CHD8, COL2A1, COL4A2, CUL4B, D2HGDH, DHCR24, DICER1, DIS3L2, DNMT3A, DPH1, DVL1, EED, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERF, ETFA, ETFB, ETFDH, EVC, EVC2, EXT2, EZH2, FBLN5, FBN1, FGFR1, FGFR3, FH, FIBP, FMR1, FOXP1, FOXRED1, FTO, GATAD2B, GCDH, GFAP, GJA1, GLI3, GNAQ, GNAS, GPC3, GPC4, GPSM2, GPX4, GRIA3, GUSB, H1-4, H19, HECW2, HEPACAM, HERC1, HEXB, HRAS, HSD17B4, HUWE1, HYLS1, IDS, IDUA, IGBP1, INPP5E, CRPPA, JAM3, KCNH1, KDM1A, KDM5C, KIF7, KMT2E, KPTN, KRAS, L1CAM, LAMB1, LBR, MAN2B1, MECP2, MED12, MGAT2, MITF, mLC1, MOCS1, MOCS2, MPDZ, MSX2, MTM1, MTOR, MYH8, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NF1, NFIA, NFIB, NFIX, NONO, NPR2, NRAS, NSD1, NUBPL, ODC1, OFD1, OPHN1, PDGFRB, PDSS1, PEX1, PHF21A, PHF6, PIAS4, PIGA, PIGM, PIK3CA, PIK3R2, PLG, PPP1CB, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RAB3GAP2, RASA1, RIN2, RIT1, RNF113A, RNF125, RNF135, ROR2, SCARF2, SEC23B, SERPINH1, SETD2, SETD2, SHANK3, SHOC2, SLC25A1, SMG9, SMO, SNX14, SOS1, SOST, SPART, SPRED1, STRADA, SUFU, SUZ12, SYN1, SZT2, TBC1D7, TBCD, TBX15, TCF12, TCF20, TGFB3, THRA, TMEM216, TMEM94, TRIO, TRIP12, TSC1, TSC2, TWIST1, UPF3B, WASHC5, WDR73, WNT5A, ZBTB20
Featured Review
Identify genetic variants associated with macrocephaly; differential diagnosis and counseling.
Genelist (205): ABCC9, ADK, AKT1, AKT2, AKT3, ANKH, APC2, ARSB, ASPA, ASXL2, B4GALT1, B4GALT7, BLTP1, BRAF, BRSK2, BRWD3, BUB1B, CCND2, CCNK, CDKN1C, CEP120, CEP55, CHD3, CHD4, CHD8, COL2A1, COL4A2, CUL4B, D2HGDH, DHCR24, DICER1, DIS3L2, DNMT3A, DPH1, DVL1, EED, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERF, ETFA, ETFB, ETFDH, EVC, EVC2, EXT2, EZH2, FBLN5, FBN1, FGFR1, FGFR3, FH, FIBP, FMR1, FOXP1, FOXRED1, FTO, GATAD2B, GCDH, GFAP, GJA1, GLI3, GNAQ, GNAS, GPC3, GPC4, GPSM2, GPX4, GRIA3, GUSB, H1-4, H19, HECW2, HEPACAM, HERC1, HEXB, HRAS, HSD17B4, HUWE1, HYLS1, IDS, IDUA, IGBP1, INPP5E, CRPPA, JAM3, KCNH1, KDM1A, KDM5C, KIF7, KMT2E, KPTN, KRAS, L1CAM, LAMB1, LBR, MAN2B1, MECP2, MED12, MGAT2, MITF, mLC1, MOCS1, MOCS2, MPDZ, MSX2, MTM1, MTOR, MYH8, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NF1, NFIA, NFIB, NFIX, NONO, NPR2, NRAS, NSD1, NUBPL, ODC1, OFD1, OPHN1, PDGFRB, PDSS1, PEX1, PHF21A, PHF6, PIAS4, PIGA, PIGM, PIK3CA, PIK3R2, PLG, PPP1CB, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RAB3GAP2, RASA1, RIN2, RIT1, RNF113A, RNF125, RNF135, ROR2, SCARF2, SEC23B, SERPINH1, SETD2, SETD2, SHANK3, SHOC2, SLC25A1, SMG9, SMO, SNX14, SOS1, SOST, SPART, SPRED1, STRADA, SUFU, SUZ12, SYN1, SZT2, TBC1D7, TBCD, TBX15, TCF12, TCF20, TGFB3, THRA, TMEM216, TMEM94, TRIO, TRIP12, TSC1, TSC2, TWIST1, UPF3B, WASHC5, WDR73, WNT5A, ZBTB20