NGS Fetal akinesia
Fetale Akinesie/Arthrogryposis Multiplex Congenita (AMC)
Associated medical conditions:
Fetal Akinesia Deformations Sequence (FADS) (OMIM 208150)
Multiple Pterygium Syndrome (OMIM 253290)
Congenital arthrogryposis with anterior horn cell disease (OMIM 611890)
Lethal congenital contracture syndrome 1 (OMIM 253310)
Fetal akinesia Panel (267 genes)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ADAMTS10, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ANTXR2, ANXA3, ASCC1, ASXL1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CASK, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CLCF1, CNTN1, CNTNAP1, COASY, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRLF1, CRYAB, CTDP1, CUL4B, DAG1, DES, DHCR24, DHCR7, DMD, DMPK, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DUX4, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM111B, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR2, GAA, GARS, GBA, GBE1, GDAP1, GFER, GFPT1, GLDN, GLE1, GMPPB, GNE, GRN, HADH, HADHA, HADHB, HNRNPA1, HRAS, HSPG2, IBA57, IGHMBP2, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LAMB2, LAMP2, LARGE, LDB3, LGI4, LMNA, LMOD3, LPIN1, MATR3, MEGF10, MFN2, MICU1, MPZ, MTM1, MTMR1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYO9A, MYOT, NALCN, NEB, NEFL, NEK9, ORAI1, PABPN1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD1, PLOD2, PMM2, PNPLA2, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PSD3, PUS1, PYGM, RAPSN, RARS2, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SCO2, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC25A42, SLC35A3, SLC52A3, SLC5A7, SMAD3, SMAD4, SMCHD1, SMN1, SMN2, SMPD4, SNAP25, STAC3, STIM1, STIM2, SYNE1, SYNE2, SYT2, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TMEM5, TMEM8C, TNNI2, TNNT1, TNNT3, TOR1AIP1, TPM2, TPM3, TRIM32, TRIP4, TRPV4, TSEN2, TSEN34, TSEN54, TTN, UBA1, UTRN, VAMP1, VCP, VIPAS39, VPS33B, VPS8, VRK1, YARS2, ZBTB42, ZC4H2, ZMPSTE24.
