Myopathy (332 genes) - IPG

Gene panel Export to PDF
Full name:
Myopathy (332 genes) - IPG
Type of panel:
Custom panel
Version number:
Version 3
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Created:
04 Jul 2019 - 10:38
Changed:
10 Oct 2022 - 15:15
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 100.00 1 NM_001605.3
ABHD5 100.00 1 NM_016006.6
ACAD9 100.00 1 NM_014049.5
ACADM 100.00 1 NM_000016.6
ACADVL 100.00 1 NM_000018.4
ACTA1 100.00 1 NM_001100.4
ACVR1 100.00 1 NM_001111067.4
ADSS1 100.00 1 NM_199165.2
AGK 100.00 1 NM_018238.4
AGL 100.00 1 NM_000642.3
AGRN 100.00 1 NM_198576.4
AIFM1 100.00 1 NM_004208.4
ALDOA 100.00 1 NM_184041.4
ALG13 98.00 1 NM_001099922.3
ALG14 100.00 1 NM_144988.4
ALG2 100.00 1 NM_033087.4
ALS2 100.00 1 NM_020919.4
AMPD1 100.00 1 NM_000036.2
ANG 100.00 1 NM_001145.4
ANO5 100.00 1 NM_213599.3
AR 100.00 1 NM_000044.6
ASAH1 100.00 1 NM_177924.5
ASCC1 100.00 1 NM_001198800.3
ATP2A1 100.00 1 NM_004320.6
ATP7A 100.00 1 NM_000052.7
ATXN2 100.00 1 NM_001372574.1
B3GALNT2 100.00 1 NM_152490.5
B4GAT1 100.00 1 NM_006876.3
BAG3 100.00 1 NM_004281.4
BCS1L 100.00 1 NM_001079866.2
BICD2 100.00 1 NM_001003800.2
BIN1 100.00 1 NM_139343.3
BSCL2 100.00 1 NM_001122955.3
BVES 100.00 1 NM_001199563.2
C1QBP 100.00 1 NM_001212.4
C9ORF72 100.00 0 NM_018325.5
CACNA1A 100.00 1 NM_023035.3
CACNA1S 100.00 1 NM_000069.3
CAPN3 100.00 1 NM_000070.3
CASQ1 100.00 1 NM_001231.5
CAV3 100.00 1 NM_033337.3
CAVIN1 100.00 1 NM_012232.6
CCDC78 100.00 1 NM_001031737.3
CFL2 100.00 1 NM_138638.5
CHAT 100.00 1 NM_020549.4
CHCHD10 100.00 1 NM_213720.3
CHKB 100.00 1 NM_005198.5
CHMP2B 100.00 1 NM_014043.4
CHRNA1 100.00 1 NM_000079.4
CHRNB1 100.00 1 NM_000747.3
CHRND 100.00 1 NM_000751.3
CHRNE 100.00 1 NM_000080.4
CHRNG 100.00 1 NM_005199.5
CHST14 100.00 1 NM_130468.4
CLCN1 100.00 1 NM_000083.3
CLN3 100.00 1 NM_001042432.2
CNBP 100.00 1 NM_003418.5
CNTN1 100.00 1 NM_001843.4
COL12A1 100.00 1 NM_004370.6
COL13A1 100.00 1 NM_001130103.2
COL6A1 100.00 1 NM_001848.3
COL6A2 100.00 1 NM_001849.4
COL6A3 100.00 1 NM_004369.4
COLQ 100.00 1 NM_005677.4
COQ9 100.00 1 NM_020312.4
COX10 100.00 1 NM_001303.4
COX15 100.00 1 NM_078470.6
COX20 100.00 1 NM_198076.6
COX6B1 100.00 1 NM_001863.5
COX8A 100.00 1 NM_004074.3
CPT2 100.00 1 NM_000098.3
CRPPA 100.00 1 NM_001101426.4
CRYAB 100.00 1 NM_001289808.2
DAG1 100.00 1 NM_001177634.2
DCTN1 100.00 1 NM_004082.4
DES 100.00 1 NM_001927.4
DGUOK 100.00 1 NM_080916.3
DMD 100.00 1 NM_004006.2
DMPK 100.00 1 NM_004409.5
DNA2 100.00 1 NM_001080449.3
DNAJB2 100.00 1 NM_006736.6
DNAJB6 100.00 1 NM_058246.4
DNM2 100.00 1 NM_001005361.3
DNMT3B 100.00 1 NM_006892.4
DOK7 100.00 1 NM_173660.5
DPAGT1 100.00 1 NM_001382.4
DPM1 99.00 1 NM_001317035.1
DPM2 100.00 1 NM_003863.4
DPM3 100.00 1 NM_153741.2
DYNC1H1 100.00 1 NM_001376.5
DYSF 100.00 1 NM_001130987.2
ECEL1 100.00 1 NM_004826.4
EMD 100.00 1 NM_000117.3
ENO3 100.00 1 NM_053013.4
ERBB3 100.00 1 NM_001982.4
ERBB4 100.00 1 NM_005235.3
ETFA 100.00 1 NM_000126.4
ETFB 100.00 1 NM_001985.3
ETFDH 100.00 1 NM_004453.4
EXOSC3 100.00 1 NM_016042.4
EXOSC8 100.00 1 NM_181503.3
FASTKD2 100.00 1 NM_001136193.2
FBN2 100.00 1 NM_001999.4
FBXL4 100.00 1 NM_001278716.2
FBXO38 100.00 1 NM_205836.3
FDX2 100.00 1 NM_001031734.4
FHL1 100.00 1 NM_001159699.2
FIG4 100.00 1 NM_014845.6
FKRP 100.00 1 NM_024301.5
FKTN 100.00 1 NM_006731.2
FLAD1 100.00 1 NM_025207.5
FLNC 100.00 1 NM_001458.4
FOXRED1 100.00 1 NM_017547.4
FUS 100.00 1 NM_004960.4
FXR1 100.00 1 NM_005087.4
GAA 100.00 1 NM_000152.5
GABRA3 100.00 1 NM_000808.4
GARS1 100.00 1 NM_002047.4
GBE1 100.00 1 NM_000158.4
GFER 100.00 1 NM_005262.3
GFPT1 100.00 1 NM_001244710.2
GLE1 100.00 1 NM_001003722.2
GLI3 100.00 1 NM_000168.6
GMPPB 100.00 1 NM_021971.4
GNE 100.00 1 NM_005476.7
GOLGA2 100.00 1 XM_005251932.1
GYG1 100.00 1 NM_004130.4
GYS1 100.00 1 NM_002103.5
HACD1 100.00 1 NM_014241.4
HADHA 100.00 1 NM_000182.5
HADHB 100.00 1 NM_000183.3
HEXB 100.00 1 NM_000521.4
HNRNPA1 100.00 1 NM_031157.4
HNRNPA2B1 100.00 1 NM_031243.3
HNRNPDL 100.00 1 NM_031372.3
HRAS 100.00 1 NM_005343.4
HSPB3 100.00 1 NM_006308.3
HSPB8 100.00 1 NM_014365.3
HSPG2 100.00 1 NM_005529.7
IBA57 100.00 1 NM_001010867.4
IGHMBP2 100.00 1 NM_002180.3
INPP5K 100.00 1 NM_016532.4
ISCU 100.00 1 NM_213595.3
ITGA7 100.00 1 NM_002206.3
KBTBD13 100.00 1 NM_001101362.2
KCNA1 100.00 1 NM_000217.3
KCNH2 100.00 1 NM_000238.4
KCNJ18 100.00 1 NM_001194958.2
KCNJ2 100.00 1 NM_000891.3
KCNQ1 100.00 1 NM_000218.3
KIF5A 100.00 1 NM_004984.4
KLHL40 100.00 1 NM_152393.4
KLHL41 100.00 1 NM_006063.3
KLHL9 100.00 1 NM_018847.4
KY 100.00 1 NM_178554.6
LAMA2 100.00 1 NM_000426.3
LAMA5 100.00 1 NM_005560.6
LAMB2 100.00 1 NM_002292.4
LAMP2 100.00 1 NM_002294.3
LARGE1 100.00 1 NM_004737.6
LDB3 98.00 1 NM_001171610.2
LDHA 100.00 1 NM_005566.4
LGI4 100.00 1 NM_139284.3
LIMS2 100.00 1 NM_017980.4
LMNA 100.00 1 NM_170707.4
LMOD3 100.00 1 NM_198271.5
LPIN1 100.00 1 NM_001349206.2
LRP4 100.00 1 NM_002334.4
LRPPRC 100.00 1 NM_133259.4
MAP3K20 100.00 1 NM_016653.3
MATR3 100.00 1 NM_018834.6
MCCC1 100.00 1 NM_020166.5
MCCC2 100.00 1 NM_022132.5
MEGF10 100.00 1 NM_001256545.2
MGME1 100.00 1 NM_052865.4
MPV17 100.00 1 NM_002437.5
MSTN 100.00 1 NM_005259.3
MTM1 100.00 1 NM_000252.3
MTMR14 100.00 1 NM_001077525.3
MUSK 100.00 1 NM_005592.4
MYBPC1 100.00 1 NM_002465.4
MYBPC3 100.00 1 NM_000256.3
MYH2 100.00 1 NM_017534.6
MYH3 100.00 1 NM_002470.4
MYH7 100.00 1 NM_000257.4
MYH8 100.00 1 NM_002472.3
MYL1 100.00 1 NM_079420.3
MYMK 100.00 1 NM_001080483.3
MYO18B 100.00 1 NM_032608.7
MYO9A 100.00 1 NM_006901.4
MYOT 100.00 1 NM_006790.3
MYPN 100.00 1 NM_032578.3
NDUFA1 100.00 1 NM_004541.4
NDUFA10 100.00 1 NM_004544.4
NDUFA11 100.00 1 NM_175614.5
NDUFA12 100.00 1 NM_018838.5
NDUFA2 100.00 1 NM_002488.5
NDUFA3 100.00 1 NM_004542.4
NDUFA9 100.00 1 NM_005002.5
NDUFAF1 100.00 1 NM_016013.4
NDUFAF2 100.00 1 NM_174889.5
NDUFAF5 100.00 1 NM_024120.5
NDUFAF6 100.00 1 NM_152416.4
NDUFS1 100.00 1 NM_005006.7
NDUFS2 100.00 1 NM_004550.4
NDUFS3 100.00 1 NM_004551.3
NDUFS4 100.00 1 NM_002495.4
NDUFS7 100.00 1 NM_024407.5
NDUFS8 100.00 1 NM_002496.4
NDUFV1 100.00 1 NM_007103.4
NDUFV2 100.00 1 NM_021074.5
NEB 88.00 1 NM_001271208.2
NEFH 100.00 1 NM_021076.4
NUBPL 100.00 1 NM_025152.3
OPTN 100.00 1 NM_001008212.2
ORAI1 100.00 1 NM_032790.3
PABPN1 100.00 1 NM_004643.3
PET100 100.00 1 NM_001171155.2
PFKM 100.00 1 NM_000289.6
PFN1 100.00 1 NM_005022.4
PGAM2 100.00 1 NM_000290.4
PGK1 100.00 1 NM_000291.4
PGM1 100.00 1 NM_002633.3
PHKA1 100.00 1 NM_002637.4
PHKB 100.00 1 NM_000293.3
PHKG1 100.00 1 NM_001258459.1
PIEZO2 100.00 1 NM_022068.3
PIP5K1C 100.00 1 NM_012398.3
PLEC 100.00 1 NM_201380.4
PLEKHG5 100.00 1 NM_001265592.1
PNPLA2 100.00 1 NM_020376.4
PNPLA8 100.00 1 NM_001256007.3
POGLUT1 100.00 1 NM_152305.3
POLG 100.00 1 NM_001126131.2
POLG2 100.00 1 NM_007215.4
POMGNT1 100.00 1 NM_001243766.1
POMGNT2 100.00 1 NM_032806.6
POMK 100.00 1 NM_032237.5
POMT1 100.00 1 NM_001077365.2
POMT2 100.00 1 NM_013382.5
PREPL 100.00 1 NM_001171613.2
PRKAG2 100.00 1 NM_016203.4
PRPH 100.00 1 NM_006262.4
PUS1 100.00 1 NM_025215.6
PYGM 100.00 1 NM_005609.4
PYROXD1 100.00 1 NM_024854.5
RAPSN 100.00 1 NM_005055.5
RBCK1 100.00 1 NM_031229.4
RBM7 100.00 1 NM_001286045.1
REEP1 100.00 1 NM_001371279.1
RNASEH1 100.00 1 NM_002936.5
RRM2B 100.00 1 NM_015713.5
RXYLT1 100.00 1 NM_014254.3
RYR1 100.00 1 NM_000540.3
SCN4A 100.00 1 NM_000334.4
SCO1 100.00 1 NM_004589.4
SCO2 100.00 1 NM_005138.3
SELENON 90.00 1 NM_020451.3
SETX 100.00 1 NM_015046.7
SGCA 100.00 1 NM_000023.4
SGCB 100.00 1 NM_000232.5
SGCD 100.00 1 XM_017009724.1
SGCG 100.00 1 NM_000231.2
SIGMAR1 100.00 1 NM_005866.4
SIL1 100.00 1 NM_022464.5
SLC18A3 100.00 1 NM_003055.3
SLC22A5 100.00 1 NM_003060.4
SLC25A20 100.00 1 NM_000387.6
SLC25A4 100.00 1 NM_001151.4
SLC52A2 100.00 1 NM_001363118.2
SLC52A3 100.00 1 NM_033409.4
SLC5A7 100.00 1 NM_021815.5
SMCHD1 100.00 1 NM_015295.3
SMN1 6.00 0 NM_000344.3+(exon 1 à 7 non couvert)
SNAP25 100.00 1 NM_130811.4
SOD1 100.00 1 NM_000454.5
SPEG 100.00 1 NM_005876.5
SPG11 100.00 1 NM_025137.4
SPG7 100.00 1 NM_003119.4
SPTBN4 100.00 1 NM_020971.3
SQSTM1 100.00 1 NM_003900.5
STAC3 100.00 1 NM_145064.3
STIM1 100.00 1 NM_001277961.1
SUCLA2 100.00 1 NM_003850.2
SUCLG1 100.00 1 NM_003849.4
SURF1 100.00 1 NM_003172.4
SYNE1 100.00 1 NM_182961.4
SYNE2 100.00 1 NM_182914.2
SYT2 100.00 1 NM_177402.5
TACO1 100.00 1 NM_016360.4
TAFAZZIN 100.00 1 NM_000116.5
TANGO2 100.00 1 NM_152906.7
TARDBP 100.00 1 NM_007375.4
TARS2 100.00 1 NM_025150.5
TCAP 100.00 1 NM_003673.4
TIA1 100.00 1 NM_022173.4
TK2 100.00 1 NM_004614.5
TMEM43 100.00 1 NM_024334.3
TNNI2 100.00 1 NM_003282.4
TNNT1 100.00 1 NM_003283.6
TNNT3 100.00 1 NM_006757.4
TNPO3 100.00 1 NM_012470.3
TOP3A 100.00 1 NM_004618.5
TOR1AIP1 100.00 1 NM_001267578.1
TPM2 100.00 1 NM_003289.4
TPM3 100.00 1 NM_152263.4
TRAPPC11 100.00 1 NM_021942.6
TRIM32 100.00 1 NM_012210.3
TRIM54 100.00 1 NM_187841.3
TRIM63 100.00 1 NM_032588.3
TRIP4 100.00 1 NM_016213.5
TRMT5 100.00 1 NM_020810.3
TRPV4 100.00 1 NM_021625.5
TSFM 100.00 1 NM_005726.6
TTN 100.00 1 NM_001267550.2
TUBA4A 100.00 1 NM_006000.3
TWNK 100.00 1 NM_021830.5
TYMP 100.00 1 NM_001257989.1
UBA1 100.00 1 NM_003334.4
UBQLN2 100.00 1 NM_013444.3
VAMP1 100.00 1 NM_014231.5
VAPB 100.00 1 NM_004738.5
VARS1 100.00 1 NM_001167734.1
VCP 100.00 1 NM_007126.5
VMA21 100.00 1 NM_001363810.1
VPS33B 100.00 1 NM_018668.5
VRK1 100.00 1 NM_003384.3
WARS1 100.00 1 NM_004184.4
XK 100.00 1 NM_021083.4
YARS2 100.00 1 NM_001040436.3
ZC4H2 100.00 1 NM_018684.4