Neuromuscular disorders - UGent

Gene panel Export to PDF
Full name:
Neuromuscular disorders - UGent
Version number:
v5
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
24 Jun 2019 - 08:41
Changed:
21 Dec 2022 - 14:37
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABHD5 99.98 1
ACAD9 100.00 1
ACADL 99.11 1
ACADM 96.14 1
ACADS 99.99 1
ACADVL 100.00 1
ACTA1 99.99 1
ACTN2 99.99 1
ACVR1 99.94 1
ADCY6 99.98 1
ADGRG6 99.91 1
ADSS1 99.99 1
AGL 97.67 1
AGRN 99.99 1
ALDOA 100.00 1
ALG13 99.44 1
ALG14 99.34 1
ALG2 100.00 1
AMPD1 98.94 1
ANO5 99.85 1
APOO 99.69 1
ASAH1 99.90 1
ASCC1 90.99 1
ASPH 99.92 1
ATP2A1 99.83 1
B3GALNT2 92.79 1
B4GAT1 100.00 1
BAG3 100.00 1
BET1 99.38 1
BIN1 99.98 1
BSCL2 99.99 1
BVES 99.83 1
CACNA1H 100.00 1
CACNA1S 99.96 1
CAPN3 99.99 1
CASQ1 99.62 1
CAV3 100.00 1
CAVIN1 100.00 1
CCDC78 100.00 1
CFH 99.97 1
CFL2 99.67 1
CHAT 99.74 1
CHCHD10 100.00 1
CHKB 100.00 1
CHRNA1 99.82 1
CHRNB1 99.99 1
CHRND 100.00 1
CHRNE 100.00 1
CHRNG 100.00 1
CLCN1 100.00 1
CLN3 99.92 1
CLPP 99.99 1
CNTN1 99.35 1
COL12A1 99.85 1
COL13A1 99.95 1
COL4A1 99.99 1
COL6A1 99.99 1
COL6A2 100.00 1
COL6A3 99.99 1
COL9A3 99.99 1
COLQ 99.98 1
CORIN 99.89 1
CPT2 99.65 1
CRPPA 99.98 1
CRYAB 100.00 1
DAG1 100.00 1
DES 100.00 1
DGUOK 99.93 1
DHX16 99.98 1
DMD 99.76 1
DMPK 99.93 1
DNAJB6 99.97 1
DNM2 99.99 1
DNMT3B 99.98 1
DOK7 99.97 1
DOLK 100.00 1
DPAGT1 100.00 1
DPM1 90.68 1
DPM2 100.00 1
DPM3 99.98 1
DYSF 99.95 1
ECEL1 100.00 1
EMD 99.93 1
ENO3 100.00 1
EPG5 99.95 1
ETFA 99.88 1
ETFB 100.00 1
ETFDH 99.82 1
FAM111B 99.98 1
FDX2 99.99 1
FKBP14 99.97 1
FKRP 100.00 1
FKTN 99.94 1
FLAD1 99.98 1
FLNC 99.99 1
FXR1 99.82 1
GAA 100.00 1
GBE1 99.73 1
GFER 100.00 1
GFPT1 99.79 1
GGPS1 99.95 1
GLDN 99.98 1
GLE1 99.99 1
GMPPB 100.00 1
GNE 99.99 1
GOLGA2 100.00 1
GOSR2 98.92 1
GYG1 99.85 1
GYS1 99.98 1
HACD1 99.98 1
HADHA 99.98 1
HADHB 99.82 1
HEXB 99.91 1
HNRNPA1 62.92 1
HNRNPA2B1 99.90 1
HNRNPDL 99.98 1
HRAS 100.00 1
HSPB1 99.97 1
HSPB3 99.97 1
HSPB8 100.00 1
HSPG2 99.87 1
HTRA2 99.99 1
INPP5K 99.94 1
ISCU 99.74 1
ITGA7 99.87 1
KBTBD13 100.00 1
KLHL40 99.96 1
KLHL41 99.96 1
KLHL9 100.00 1
KY 99.97 1
LAMA2 99.95 1
LAMA5 99.99 1
LAMB2 99.99 1
LAMP2 98.95 1
LARGE1 100.00 1
LARS2 99.96 1
LAS1L 99.97 1
LDB3 99.91 1
LDHA 99.94 1
LGI4 99.98 1
LIMS2 99.97 1
LMNA 99.96 1
LMOD3 99.91 1
LOXL4 99.92 1
LPIN1 99.96 1
LRIF1 99.82 1
MAP3K20 99.84 1
MB 99.99 1
MCOLN1 100.00 1
MEGF10 99.91 1
MET 99.97 1
MICU1 99.56 1
MPDU1 99.97 1
MRPS25 99.97 1
MSTN 99.96 1
MSTO1 76.34 1
MTM1 99.76 1
MTMR14 99.99 1
MUSK 99.93 1
MYBPC1 99.77 1
MYBPC3 99.98 1
MYF5 99.99 1
MYH2 99.98 1
MYH3 99.99 1
MYH7 99.99 1
MYH7B 99.98 1
MYH8 100.00 1
MYL1 99.75 1
MYL2 99.99 1
MYMK 99.88 1
MYO18B 99.98 1
MYO9A 99.93 1
MYOT 99.93 1
MYPN 99.88 1
NEB 87.33 1
NEFL 100.00 1
ORAI1 99.63 1
PABPN1 99.99 1
PAX7 99.83 1
PEX6 99.99 1
PFKM 99.57 1
PGAM2 100.00 1
PGK1 99.93 1
PGM1 96.77 1
PHKA1 99.84 1
PHKB 99.69 1
PIEZO2 98.45 1
PLEC 100.00 1
PNPLA2 100.00 1
PNPLA8 99.92 1
POGLUT1 99.99 1
POLG 100.00 1
POLG2 99.51 1
POMGNT1 99.69 1
POMGNT2 100.00 1
POMK 100.00 1
POMT1 99.96 1
POMT2 99.98 1
POPDC3 99.96 1
PREPL 99.63 1
PRKAG2 99.96 1
PTRH2 99.99 1
PUS1 100.00 1
PYGM 99.96 1
PYROXD1 99.77 1
RAPSN 99.97 1
RBCK1 100.00 1
RRM2B 99.97 1
RXYLT1 99.48 1
RYR1 99.97 1
RYR3 99.98 1
SCN4A 99.98 1
SELENON 93.61 1
SGCA 100.00 1
SGCB 99.95 1
SGCD 100.00 1
SGCG 99.99 1
SIL1 99.95 1
SLC16A1 99.26 1
SLC18A3 99.99 1
SLC22A5 99.99 1
SLC25A1 99.93 1
SLC25A20 100.00 1
SLC25A4 100.00 1
SLC25A42 99.99 1
SLC5A7 99.57 1
SMCHD1 99.83 1
SMPX 99.80 1
SNAP25 99.89 1
SPEG 99.99 1
SPTBN4 99.91 1
SQSTM1 100.00 1
STAC3 99.91 1
STIM1 99.99 1
SUCLA2 99.96 1
SVIL 99.98 1
SYNE1 99.95 1
SYNE2 99.95 1
SYT2 99.93 1
TARDBP 100.00 1
TCAP 100.00 1
TFAM 99.24 1
TIA1 99.72 1
TIMM22 100.00 1
TK2 99.96 1
TMEM43 99.96 1
TMEM65 99.93 1
TNNC2 99.99 1
TNNI2 99.99 1
TNNT1 99.82 1
TNNT3 100.00 1
TNPO3 99.96 1
TNXB 90.86 1
TOR1AIP1 98.45 1
TPM2 100.00 1
TPM3 83.21 1
TRAPPC11 99.93 1
TRIM32 100.00 1
TRIM54 89.88 1
TRIP4 99.97 1
TSEN54 100.00 1
TSFM 100.00 1
TTN 99.15 1
TYMP 99.87 1
UNC45B 100.00 1
VAMP1 100.00 1
VCP 99.99 1
VMA21 99.90 1
VPS33B 99.95 1
YARS2 99.93 1
ZBTB42 100.00 1
ZC4H2 99.98 1