Arthrogryposis, NGS
Identify genetic causes of arthrogryposis; prenatal diagnosis and genetic counseling.
Genelist (107): ACTA1, AGRN, ALG14 , ALG2 , ALG3, ANTXR2, BICD2 , BIN1 , CASK, CHAT , CHMP1A , CHRNA1 , CHRNB1 , CHRND, CHRNE , CHRNG , CHST14, CFL2, CNTN1 , CNTNAP1 , COL6A1, COL6A2, COL6A3 , COLQ , DHCR24 , DNM2, DOK7, DPAGT1, ECEL1 , EGR2, ERBB3, ERCC1, ERCC5, ERCC6, EXOSC3, FBN1 , FBN2, FHL1, FKBP10 , FKRP , FKTN , FLVCR2, GBA1, GBE1 , GFPT1, GLE1 , GMPPB , IGHMBP2 , KAT6B , KLHL40, KLHL41, LMNA, LMOD3 , LRP4 , MAGEL2, MPZ , MTM1 , MUSK , MYBPC1, MYH2, MYH3 , MYH8, NALCN , NEB , PIEZO2 , PIP5K1C , PLOD2, PMM2, RAPSN , RARS2, RIPK4 , RYR1 , SCARF2, SCN4A , SCO2, SELENON , SKI, SLC35A3 , SLC39A13, SLC5A7 , SOX10 , SYNE1 , SYT2 , TGFB3 , TK2, TNNI2 , TNNT1 , TNNT3 , TPM2 , TPM3 , TRIP4 , TRPV4 , TSEN2, TSEN54, TTN , UBA1 , VIPAS39 , VPS33B, VRK1, ZBTB42, ZC4H2
Featured Review
Identify genetic causes of arthrogryposis; prenatal diagnosis and genetic counseling.
Genelist (107): ACTA1, AGRN, ALG14 , ALG2 , ALG3, ANTXR2, BICD2 , BIN1 , CASK, CHAT , CHMP1A , CHRNA1 , CHRNB1 , CHRND, CHRNE , CHRNG , CHST14, CFL2, CNTN1 , CNTNAP1 , COL6A1, COL6A2, COL6A3 , COLQ , DHCR24 , DNM2, DOK7, DPAGT1, ECEL1 , EGR2, ERBB3, ERCC1, ERCC5, ERCC6, EXOSC3, FBN1 , FBN2, FHL1, FKBP10 , FKRP , FKTN , FLVCR2, GBA1, GBE1 , GFPT1, GLE1 , GMPPB , IGHMBP2 , KAT6B , KLHL40, KLHL41, LMNA, LMOD3 , LRP4 , MAGEL2, MPZ , MTM1 , MUSK , MYBPC1, MYH2, MYH3 , MYH8, NALCN , NEB , PIEZO2 , PIP5K1C , PLOD2, PMM2, RAPSN , RARS2, RIPK4 , RYR1 , SCARF2, SCN4A , SCO2, SELENON , SKI, SLC35A3 , SLC39A13, SLC5A7 , SOX10 , SYNE1 , SYT2 , TGFB3 , TK2, TNNI2 , TNNT1 , TNNT3 , TPM2 , TPM3 , TRIP4 , TRPV4 , TSEN2, TSEN54, TTN , UBA1 , VIPAS39 , VPS33B, VRK1, ZBTB42, ZC4H2