55340 – Panel virtuel global de gènes associés aux maladies musculaires à partir des données de séquençage de l’exome (compilation seulement) (RQDM)
Génétique - Génétique moléculaire
Gènes
ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTC1, ACTN2, ADAMTS2, ADCY6, ADGRG6, ADSS1, AGL, AGRN, ALDOA, ALG14, ALG2, AMPD1, ANO5, ASCC1, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BET1, BICD2, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, CLCN1, CNBP, CNTN1, CNTNAP1, COL12A1, COL13A1, COL1A1, COL1A2, COL25A1, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, COL6A6, COLQ, COQ4, COQ8A, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB4, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DTNA, DYNC1H1, DYSF, ECEL1, EMD, ENO3, EPG5, ERBB3, ETFA, ETFB, ETFDH, FBLN5, FBN2, FDX2, FHL1, FILIP1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GBE1, GFER, GFPT1, GGPS1, GLDN, GLE1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HMGCR, HMGCS1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPB1, HSPB8, HSPG2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNA1, KCNJ2, KCNQ2, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LETM1, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP4, MAGEL2, MAMDC2, MAP3K20, MATR3, MB, MCOLN1, MEGF10, MICU1, MLIP, MPDU1, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL11, MYL2, MYMK, MYMX, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NALCN, NEB, NEK9, NUP88, OBSCN, ORAI1, PABPN1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PIP5K1C, PLEC, PLOD1, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PREPL, PRKAG2, PYGM, PYROXD1, RAPSN, RBCK1, RPH3A, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A32, SLC25A4, SLC5A7, SMCHD1, SMPX, SNAP25, SNUPN, SPEG, SPTBN4, SQSTM1, SRPK3, STAC3, STIM1, SUCLA2, SVIL, SYNE1, SYNE2, SYT2, TAMM41, TANGO2, TCAP, TIA1, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TNXB, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRAPPC2L, TRDN, TRIM32, TRIP4, TRPV4, TSFM, TTN, TYMP, UNC13A, UNC45B, VAMP1, VCP, VMA21, YARS2, ZBTB42, ZC4H2
Indications cliniques
Maladies musculaires
Laboratoires effectuant cette analyse
- Centre hospitalier universitaire de Sherbrooke
Laboratoire de cytogénétique et biologie moléculaire
Responsable(s) : Dre Natascia Anastasio, Dr Sébastien Lévesque, Dr Sébastien Chénier - Centre hospitalier universitaire Sainte-Justine
Laboratoire de diagnostic moléculaire
Responsable(s) : Dr Jean-François Soucy, Dre Catalina Maftel, Mme Mylène Dugas
