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פאנלים
Arthrogryposis
GC_47
Last update: 18.01.2026
Arthrogryposis describes congenital joint contractures affecting one or more body regions and is most commonly caused by reduced fetal movement during development. The underlying etiology is highly heterogeneous and may involve the motor neuron, peripheral nerve, neuromuscular junction, skeletal muscle, connective tissue, or fetal developmental pathways.
This panel includes genes associated with the major causes of arthrogryposis, including distal arthrogryposis, fetal akinesia sequence, congenital myopathies, congenital myasthenic syndromes, connective tissue disorders, and syndromic congenital contracture disorders. Representative genes include CHRNG, CHRNA1, CHRNB1, DOK7, RAPSN, RYR1, ECEL1, PIEZO2, MYH3, TPM2, FLNB, and ZC4H2.
This panel is recommended for fetuses, neonates, or children with multiple congenital contractures, reduced fetal movement, clubfoot, pterygia, or suspected fetal akinesia sequence. It is the preferred first-line panel when the underlying cause of arthrogryposis is uncertain.
ACTA1, ACTC1, ADAMTS10, ADAMTS15, ADCY6, ADGRG6, AGRN, ALG3, ANTXR2, ASCC1, ASXL1, ATAD1, ATP1A2, B3GALNT2, B4GAT1, BICD2, BIN1, CACNA1E, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CIAO1, CNTN1, CNTNAP1, COASY, COL12A1, COL25A1, COL6A1, COL6A2, COL6A3, COLQ, CRLF1, CRPPA, DAG1, DHCR24, DNM2, DOK7, DPAGT1, DPM2, DST, DYNC1H1, EBP, ECEL1, EGR2, ERBB3, ERCC1, ERCC5, ERCC6, ERCC8, ERGIC1, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FILIP1, FKBP10, FKRP, FKTN, FLNA, FLNB, FLNC, FLVCR2, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, HSPG2, IRF6, KAT6B, KCNK3, KIAA1109, KIDINS220, KIF21A, KLHL40, KLHL41, KLHL7, LAMA2, LARGE1, LGI3, LGI4, LMNA, LMOD3, LMX1B, MAGEL2, MED12, MET, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, MYL11, MYMK, MYOD1, NALCN, NEB, NEK9, NUP88, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PIEZO2, PIP5K1C, PLOD1, PLOD2, PMM2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPP3CA, PRG4, RAPSN, RARS2, RIPK4, RXYLT1, RYR1, SCARF2, SCN1A, SCN4A, SCO2, SCYL2, SELENON, SKI, SLC18A3, SLC29A3, SLC35A3, SLC5A7, SLC6A9, SMAD3, SMAD4, SMN1, SMN2, SMPD4, STAC3, STIM1, SVIL, SYNE1, TGFB2, TGFB3, TGFBR1, TGFBR2, TK2, TNNI2, TNNT1, TNNT3, TOR1A, TOR1AIP1, TPM2, TPM3, TRIP4, TRPV4, TSEN2, TSEN54, TTN, UBA1, UNC50, VAMP1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2, ZMPSTE24
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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