Myopathy (genepanel) - UZA
Full name: |
Myopathy (genepanel) - UZA
|
Description: |
https://labogidsmedgen.uza.be/analyses/myopathie-mu
|
Version number: |
MU_versie 3
|
Laboratory: | |
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 |