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NGS Spieraandoeningen

Panel naam NGS Spieraandoeningen
Panel methode Wes-based NGS
Panel versie ** v3
Panel kwaliteit *** C
Core-NL Geen core-NL genen inbegrepen
CNV analyse Nee
Locatie Locatie AMC
Genen (172) Kwaliteit % coverage >30 % coverage >20 Core-NL Notitie
ACADVL C 100.00 100.00 NM_000018.4
ACTA1 C 100.00 100.00 NM_001100.4
ACVR1 C 100.00 100.00 NM_001111067.4
AGL C 99.78 99.97 NM_000642.3
AGRN C 99.99 100.00 NM_198576.4
ALG14 C 99.94 100.00 NM_144988.4
ALG2 C 100.00 100.00 NM_033087.4
ANO5 C 100.00 100.00 NM_213599.3
ATP2A1 C 99.93 100.00 NM_004320.6
ATP7A C 99.97 99.99 NM_000052.7
B3GALNT2 C 99.88 99.99 NM_152490.5
B4GAT1 C 100.00 100.00 NM_006876.3
BAG3 C 100.00 100.00 NM_004281.4
BICD2 C 100.00 100.00 NM_001003800.2
BIN1 C 100.00 100.00 NM_139343.3
CACNA1S C 100.00 100.00 NM_000069.3
CAPN3 C 100.00 100.00 NM_000070.3
CASQ1 C 99.93 99.99 NM_001231.5
CAV3 C 100.00 100.00 NM_033337.3
CAVIN1 C 100.00 100.00 NM_012232.6
CAVIN1 C 100.00 100.00 NM_012232.6
CCDC78 C 100.00 100.00 NM_001378030.1
CFL2 C 100.00 100.00 NM_138638.5
CHAT C 99.89 100.00 NM_020549.5
CHCHD10 C 100.00 100.00 NM_213720.3
CHKB C 100.00 100.00 NM_005198.5
CHRNA1 C 100.00 100.00 NM_000079.4
CHRNB1 C 100.00 100.00 NM_000747.3
CHRND C 100.00 100.00 NM_000751.3
CHRNE C 100.00 100.00 NM_000080.4
CLCN1 C 100.00 100.00 NM_000083.3
CNTN1 C 100.00 100.00 NM_001843.4
COL12A1 C 100.00 100.00 NM_004370.6
COL13A1 C 99.91 99.94 NM_001368882.1
COL6A1 C 100.00 100.00 NM_001848.3
COL6A2 C 100.00 100.00 NM_001849.4
COL6A3 C 100.00 100.00 NM_004369.4
COLQ C 100.00 100.00 NM_005677.4
CPT2 C 100.00 100.00 NM_000098.3
CRPPA C 100.00 100.00 NM_001101426.4
CRYAB C 100.00 100.00 NM_001289808.2
DAG1 C 100.00 100.00 NM_004393.6
DES C 100.00 100.00 NM_001927.4
DMD C 100.00 100.00 NM_004006.3
DNA2 C 100.00 100.00 NM_001080449.3
DNAJB6 C 100.00 100.00 NM_058246.4
DNM2 C 100.00 100.00 NM_001005361.3
DOK7 C 100.00 100.00 NM_173660.5
DPAGT1 C 100.00 100.00 NM_001382.4
DPM1 C 100.00 100.00 NM_003859.3
DPM2 C 100.00 100.00 NM_003863.4
DPM3 C 100.00 100.00 NM_153741.2
DYNC1H1 C 100.00 100.00 NM_001376.5
DYSF C 99.98 100.00 NM_001130987.2
ECEL1 C 100.00 100.00 NM_004826.4
EMD C 100.00 100.00 NM_000117.3
ENO3 C 100.00 100.00 NM_053013.4
ERBB3 C 100.00 100.00 NM_001982.4
EXOSC8 C 100.00 100.00 NM_181503.3
FAM111B C 100.00 100.00 NM_198947.4
FHL1 C 100.00 100.00 NM_001159699.2
FKBP14 C 100.00 100.00 NM_017946.4
FKRP C 100.00 100.00 NM_024301.5
FKTN C 100.00 100.00 NM_001079802.2
FLNC C 100.00 100.00 NM_001458.5
GAA C 100.00 100.00 NM_000152.5
GBE1 C 100.00 100.00 NM_000158.4
GFPT1 C 100.00 100.00 NM_001244710.2
GMPPB C 100.00 100.00 NM_021971.4
GNE C 100.00 100.00 NM_005476.7
GYG1 C 100.00 100.00 NM_004130.4
GYS1 C 100.00 100.00 NM_002103.5
HSPG2 C 99.54 99.76 NM_005529.7
IGHMBP2 C 99.99 100.00 NM_002180.3
INPP5K C 100.00 100.00 NM_016532.4
ISCU C 100.00 100.00 NM_213595.4
ITGA7 C 99.98 100.00 NM_002206.3
KBTBD13 C 100.00 100.00 NM_001101362.3
KCNJ2 C 100.00 100.00 NM_000891.3
KLHL40 C 100.00 100.00 NM_152393.4
KLHL41 C 100.00 100.00 NM_006063.3
KLHL9 C 100.00 100.00 NM_018847.4
LAMA2 C 100.00 100.00 NM_000426.4
LAMA5 C 100.00 100.00 NM_005560.6
LAMP2 C 99.99 100.00 NM_002294.3
LARGE1 C 100.00 100.00 NM_133642.5
LDB3 C 99.92 100.00 NM_007078.3
LDHA C 100.00 100.00 NM_005566.4
LMNA C 99.95 100.00 NM_170707.4
LMOD3 C 99.98 99.98 NM_198271.5
LPIN1 C 100.00 100.00 NM_001349206.2
MEGF10 C 99.96 100.00 NM_001256545.2
MICU1 C 99.98 100.00 NM_001195518.2
MORC2 C 100.00 100.00 NM_001303256.3
MSTN C 100.00 100.00 NM_005259.3
MTM1 C 100.00 100.00 NM_000252.3
MUSK C 100.00 100.00 NM_005592.4
MYF6 C 100.00 100.00 NM_002469.3
MYH2 C 100.00 100.00 NM_017534.6
MYH3 C 100.00 100.00 NM_002470.4
MYH7 C 99.94 100.00 NM_000257.4
MYO9A C 100.00 100.00 NM_006901.4
MYOT C 100.00 100.00 NM_006790.2
NAPA C 100.00 100.00 NM_003827.4
NEB C 87.28 87.75 NM_001164508.2
OPA1 C 100.00 100.00 NM_130837.3
ORAI1 C 100.00 100.00 NM_032790.3
PABPN1 C 100.00 100.00 NM_004643.4
PFKM C 100.00 100.00 NM_000289.6
PGAM2 C 100.00 100.00 NM_000290.4
PGK1 C 100.00 100.00 NM_000291.4
PGM1 C 97.9 99.75 NM_002633.3
PHKA1 C 99.97 99.98 NM_002637.4
PIP5K1C C 99.9 99.99 NM_012398.3
PLEC C 100.00 100.00 NM_201384.3
PNPLA2 C 100.00 100.00 NM_020376.4
POMGNT1 C 99.89 99.99 NM_017739.4
POMGNT2 C 100.00 100.00 NM_032806.6
POMK C 100.00 100.00 NM_032237.5
POMT1 C 100.00 100.00 NM_001077365.2
POMT2 C 100.00 100.00 NM_013382.7
PREPL C 100.00 100.00 NM_001171613.2
PRPS1 C 100.00 100.00 NM_002764.4
PYGM C 100.00 100.00 NM_005609.4
PYROXD1 C 100.00 100.00 NM_024854.5
RAPSN C 100.00 100.00 NM_005055.5
RBCK1 C 100.00 100.00 NM_031229.4
RPH3A C 100.00 100.00 NM_001143854.2
RRM2B C 100.00 100.00 NM_001172477.1
RXYLT1 C 99.99 100.00 NM_014254.3
RYR1 C 99.41 99.67 NM_000540.3
SCN4A C 100.00 100.00 NM_000334.4
SELENON C 84.45 85.74 NM_020451.3
SGCA C 100.00 100.00 NM_000023.4
SGCB C 99.94 99.97 NM_000232.5
SGCD C 100.00 100.00 NM_000337.6
SGCG C 100.00 100.00 NM_000231.3
SLC18A2 C 100.00 100.00 NM_003054.6
SLC18A3 C 99.97 100.00 NM_003055.3
SLC25A1 C 99.92 100.00 NM_005984.5
SLC25A4 C 100.00 100.00 NM_001151.4
SLC52A2 C 100.00 100.00 NM_001363118.2
SLC52A3 C 100.00 100.00 NM_033409.4
SLC5A7 C 99.98 100.00 NM_021815.5
SMCHD1 C 100.00 100.00 NM_015295.3
SPEG C 100.00 100.00 NM_005876.5
STIM1 C 100.00 100.00 NM_001382567.1
SYT2 C 99.97 100.00 NM_177402.5
TANGO2 C 99.96 100.00 NM_152906.7
TCAP C 100.00 100.00 NM_003673.4
TNNI2 C 100.00 100.00 NM_003282.4
TNNT1 C 99.92 99.94 NM_003283.6
TNPO3 C 100.00 100.00 NM_012470.4
TPM2 C 100.00 100.00 NM_003289.4
TPM3 C 83.58 89.31 NM_152263.4
TRAPPC11 C 100.00 100.00 NM_021942.6
TRIM32 C 100.00 100.00 NM_012210.4
TRIP4 C 100.00 100.00 NM_016213.5
TRPV4 C 100.00 100.00 NM_021625.5
TTC19 C 100.00 100.00 NM_017775.4
TTN C 99.38 99.62 NM_001267550.2
TWNK C 100.00 100.00 NM_021830.5
UBA1 C 99.99 100.00 NM_003334.4
UNC13A C 99.98 100.00 NM_001080421.3
VAMP1 C 100.00 100.00 NM_014231.5
VCP C 99.98 99.98 NM_007126.5
VIPAS39 C 100.00 100.00 NM_001193315.2
VMA21 C 100.00 100.00 NM_001017980.4
VRK1 C 100.00 100.00 NM_003384.3
XK C 100.00 100.00 NM_021083.4
YARS1
ZC4H2 C 100.00 100.00 NM_018684.4
Indicatie(s)
Spieraandoeningen, algemeen

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C


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