Myopathy (genepanel) - UZA

Gene panel Export to PDF
Full name:
Myopathy (genepanel) - UZA
Description:
https://labogidsmedgen.uza.be/analyses/myopathie-mu
Version number:
MU_versie 3
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Created:
11 Dec 2020 - 08:57
Changed:
27 Nov 2023 - 09:19
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABHD5 99.64 1
ACAD9 99.97 1
ACADM 99.64 1
ACADS 100.00 1
ACADVL 99.94 1
ACTA1 99.99 1
ACTN2 99.96 1
ADSS1 99.99 1
AGK 99.98 1
AGL 99.92 1
AGRN 99.83 1
ALDOA 100.00 1
ALG14 99.97 1
ALG2 99.95 1
ANO5 99.96 1
ANXA11 99.88 1
ASCC1 91.38 1
ATP1A2 99.96 1
ATP2A1 99.97 1
B3GALNT2 94.03 1
B4GAT1 99.95 1
BAG3 100.00 1
BIN1 100.00 1
BVES 99.97 1
CACNA1S 99.92 1
CAP2 99.97 1
CAPN3 99.98 1
CASQ1 99.91 1
CAV3 99.85 1
CAVIN1 99.99 1
CFL2 99.81 1
CHAT 99.77 1
CHD7 99.96 1
CHKB 99.89 1
CHRNA1 99.96 1
CHRNB1 99.99 1
CHRND 100.00 1
CHRNE 99.95 1
CHRNG 99.87 1
CLCN1 99.97 1
CNBP 99.97 1
COL12A1 99.95 1
COL13A1 99.56 1
COL25A1 99.96 1
COL6A1 100.00 1
COL6A2 99.96 1
COL6A3 99.99 1
COLQ 99.97 1
COX6A2 98.51 1
CPT2 99.99 1
CRPPA 99.59 1
CRYAB 99.98 1
DAG1 100.00 1
DCST2 99.92 1
DES 100.00 1
DGUOK 99.76 1
DMD 99.41 1
DMPK 99.98 1
DNAJB6 99.91 1
DNM2 99.96 1
DNMT3B 99.98 1
DOK7 99.73 1
DPAGT1 99.96 1
DPM2 100.00 1
DPM3 100.00 1
DYSF 99.99 1
EMD 97.92 1
ENO3 99.98 1
ETFA 99.84 1
ETFDH 99.76 1
FAM111B 99.99 1
FDX2 99.94 1
FHL1 99.92 1
FKRP 99.99 1
FKTN 99.91 1
FLAD1 100.00 1
FLNC 99.99 1
FXR1 99.81 1
GAA 99.99 1
GBE1 99.84 1
GFER 99.96 1
GFPT1 99.90 1
GGPS1 99.89 1
GMPPB 99.95 1
GNE 99.98 1
GYG1 99.97 1
GYS1 99.98 1
HACD1 99.78 1
HADH 99.97 1
HADHA 99.96 1
HADHB 99.97 1
HNRNPA1 100.00 1
HNRNPA2B1 99.95 1
HNRNPDL 99.92 1
INPP5K 99.99 1
ISCU 99.94 1
ITGA7 99.98 1
ITGA9 99.80 1
JAG2 98.50 1
KBTBD13 100.00 1
KCNJ2 100.00 1
KIF21A 99.80 1
KLHL40 100.00 1
KLHL41 99.96 1
KLHL9 100.00 1
KY 98.80 1
LAMA2 99.97 1
LAMB2 99.99 1
LAMP2 98.98 1
LARGE1 99.99 1
LDB3 98.02 1
LDHA 99.77 1
LIMS2 99.65 1
LMNA 99.98 1
LMOD3 99.96 1
LPIN1 99.97 1
LRP4 99.98 1
MAP3K20 99.92 1
MATR3 99.87 1
MB 99.99 1
MEGF10 99.90 1
MICU1 99.98 1
MLIP 99.94 1
MSTO1 98.87 1
MTM1 99.36 1
MUSK 99.97 1
MYBPC1 99.90 1
MYBPC3 99.98 1
MYH14 99.79 1
MYH2 99.97 1
MYH3 99.96 1
MYH7 100.00 1
MYL1 99.93 1
MYL2 99.98 1
MYMX 100.00 1
MYO18B 99.98 1
MYO9A 99.91 1
MYOD1 99.82 1
MYOT 99.98 1
MYPN 99.97 1
NEB 99.77 1
NPL 99.95 1
OPA1 99.87 1
ORAI1 97.73 1
PABPN1 99.67 1
PAX7 99.96 1
PFKM 99.82 1
PGAM2 100.00 1
PGK1 99.71 1
PGM1 99.89 1
PHKA1 99.57 1
PHKB 99.79 1
PHOX2A 96.75 1
PLEC 99.98 1
PNPLA2 99.99 1
PNPLA8 99.81 1
POGLUT1 99.91 1
POLG 99.98 1
POLG2 99.68 1
POMGNT1 99.98 1
POMGNT2 100.00 1
POMK 99.98 1
POMT1 99.91 1
POMT2 99.93 1
POPDC3 99.93 1
PREPL 99.96 1
PRKAG2 99.92 1
PYGM 99.98 1
PYROXD1 99.83 1
RAPSN 99.99 1
RBCK1 99.99 1
RXYLT1 99.53 1
RYR1 99.92 1
SCN4A 99.77 1
SELENON 95.81 1
SGCA 99.99 1
SGCB 99.62 1
SGCD 99.94 1
SGCG 99.87 1
SIL1 99.99 1
SLC18A3 100.00 1
SLC22A5 99.99 1
SLC25A20 99.90 1
SLC25A4 99.96 1
SLC5A7 99.97 1
SMCHD1 99.82 1
SMPX 99.37 1
SPEG 99.97 1
SQSTM1 100.00 1
STAC3 99.94 1
STIM1 99.97 1
SVIL 99.94 1
SYNE1 99.96 1
SYNE2 99.85 1
SYT2 99.89 1
TCAP 100.00 1
TIA1 99.56 1
TK2 99.99 1
TMEM126B 99.68 1
TMEM43 99.98 1
TNNC2 99.95 1
TNNI2 100.00 1
TNNT1 99.82 1
TNNT3 100.00 1
TNPO3 99.95 1
TNXB 99.95 1
TOP3A 99.95 1
TOR1AIP1 99.84 1
TPI1 99.95 1
TPM2 99.93 1
TPM3 99.95 1
TRAPPC11 99.59 1
TRDN 99.03 1
TRIM32 100.00 1
TRIP4 99.91 1
TRMT5 99.83 1
TTN 99.96 1
TUBB3 100.00 1
TWNK 100.00 1
UNC45B 99.93 1
VAMP1 99.70 1
VCP 99.92 1
VMA21 97.04 1
VWA1 91.35 1