Neuromuscular disorders (548 genes) - ULB

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Full name:
Neuromuscular disorders (548 genes) - ULB
Version number:
Version 6
Laboratory:
Created:
15 Jul 2019 - 11:01
Changed:
15 Mar 2022 - 14:35
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 100.00 0 No comment
ABCD1 97.56 0 No comment
ABHD12 88.30 0 No comment
ABHD5 99.85 0 No comment
ACAD9 100.00 0 No comment
ACADL 98.57 0 No comment
ACADM 99.87 0 No comment
ACADS 97.51 0 No comment
ACADVL 98.04 0 No comment
ACTA1 99.79 0 No comment
ACVR1 100.00 0 No comment
ADAR 100.00 0 No comment
ADSS1 99.98 0 No comment
AFG3L2 94.80 0 No comment
AGK 100.00 0 No comment
AGL 100.00 0 No comment
AGRN 96.53 0 No comment
AIFM1 99.98 0 No comment
AIMP1 99.97 0 No comment
ALDH18A1 100.00 0 No comment
ALDH3A2 99.94 0 No comment
ALDOA 100.00 0 No comment
ALG13 99.53 0 No comment
ALG14 100.00 0 No comment
ALG2 99.83 0 No comment
ALS2 100.00 0 No comment
AMPD1 100.00 0 No comment
AMPD2 99.90 0 No comment
ANG 100.00 0 No comment
ANO5 100.00 0 No comment
ANXA11 99.99 0 No comment
AP4B1 100.00 0 No comment
AP4E1 99.99 0 No comment
AP4M1 100.00 0 No comment
AP4S1 100.00 0 No comment
AP5Z1 99.25 0 No comment
APTX 99.96 0 No comment
AR 100.00 0 No comment
ARG1 100.00 0 No comment
ARHGEF10 99.98 0 No comment
ARHGEF28 99.05 0 No comment
ARL6IP1 100.00 0 No comment
ARSI 99.82 0 No comment
ASAH1 100.00 0 No comment
ASCC1 91.30 0 No comment
ATL1 99.89 0 No comment
ATL3 99.93 0 No comment
ATM 100.00 0 No comment
ATP13A2 98.30 0 No comment
ATP1A1 100.00 0 No comment
ATP2A1 100.00 0 No comment
ATP7A 100.00 0 No comment
ATXN2 93.25 0 No comment
AUH 99.24 0 No comment
B3GALNT2 92.96 0 No comment
B4GALNT1 99.99 0 No comment
B4GAT1 99.99 0 No comment
BAG3 100.00 0 No comment
BCS1L 100.00 0 No comment
BICD2 100.00 0 No comment
BIN1 99.94 0 No comment
BSCL2 100.00 0 No comment
BVES 100.00 0 No comment
C19ORF12 100.00 0 No comment
C1QBP 99.47 0 No comment
C9ORF72 99.96 0 No comment
CACNA1A 99.53 0 No comment
CACNA1S 100.00 0 No comment
CAPN1 99.97 0 No comment
CAPN3 99.99 0 No comment
CASQ1 100.00 0 No comment
CAV3 100.00 0 No comment
CAVIN1 100.00 0 No comment
CCDC78 100.00 0 No comment
CCT5 99.92 0 No comment
CFH 100.00 0 No comment
CFL2 100.00 0 No comment
CHAT 99.97 0 No comment
CHCHD10 99.66 0 No comment
CHKB 99.75 0 No comment
CHMP2B 100.00 0 No comment
CHRNA1 99.99 0 No comment
CHRNB1 99.95 0 No comment
CHRND 100.00 0 No comment
CHRNE 100.00 0 No comment
CHRNG 99.87 0 No comment
CHST14 99.50 0 No comment
CLCN1 100.00 0 No comment
CLN3 100.00 0 No comment
CLN8 100.00 0 No comment
CLTCL1 99.04 0 No comment
CNBP 100.00 0 No comment
CNTN1 100.00 0 No comment
CNTNAP1 100.00 0 No comment
COL12A1 100.00 0 No comment
COL13A1 99.52 0 No comment
COL6A1 99.90 0 No comment
COL6A2 99.98 0 No comment
COL6A3 100.00 0 No comment
COLQ 100.00 0 No comment
COQ9 100.00 0 No comment
CORIN 99.01 0 No comment
COX10 100.00 0 No comment
COX15 99.99 0 No comment
COX20 100.00 0 No comment
COX6A1 100.00 0 No comment
COX6B1 100.00 0 No comment
COX8A 100.00 0 No comment
CPT1C 100.00 0 No comment
CPT2 98.55 0 No comment
CRPPA 95.50 0 No comment
CRYAB 100.00 0 No comment
CSF1R 99.99 0 No comment
CTDP1 100.00 0 No comment
CYP27A1 99.38 0 No comment
CYP2U1 93.20 0 No comment
CYP7B1 95.41 0 No comment
DAG1 100.00 0 No comment
DARS2 100.00 0 No comment
DCAF8 100.00 0 No comment
DCTN1 100.00 0 No comment
DDHD1 99.58 0 No comment
DDHD2 100.00 0 No comment
DES 100.00 0 No comment
DGAT2 100.00 0 No comment
DGUOK 100.00 0 No comment
DHTKD1 99.54 0 No comment
DMD 99.96 0 No comment
DMPK 99.91 0 No comment
DMXL2 100.00 0 No comment
DNAJB2 100.00 0 No comment
DNAJB6 91.94 0 No comment
DNM2 99.84 0 No comment
DNMT1 99.54 0 No comment
DOK7 97.44 0 No comment
DOLK 100.00 0 No comment
DPAGT1 100.00 0 No comment
DPM1 100.00 0 No comment
DPM2 100.00 0 No comment
DPM3 100.00 0 No comment
DST 100.00 0 No comment
DYNC1H1 99.92 0 No comment
DYSF 99.72 0 No comment
ECEL1 99.80 0 No comment
EGR2 100.00 0 No comment
ELOVL4 100.00 0 No comment
ELP1 100.00 0 No comment
EMD 98.97 0 No comment
ENO3 100.00 0 No comment
ENTPD1 100.00 0 No comment
ERBB3 100.00 0 No comment
ERBB4 100.00 0 No comment
ERCC2 98.91 0 No comment
ERLIN1 100.00 0 No comment
ERLIN2 100.00 0 No comment
ETFA 100.00 0 No comment
ETFB 100.00 0 No comment
ETFDH 100.00 0 No comment
EXOSC3 100.00 0 No comment
EXOSC8 100.00 0 No comment
FA2H 95.71 0 No comment
FAM111B 100.00 0 No comment
FARS2 100.00 0 No comment
FASTKD2 100.00 0 No comment
FBLN5 100.00 0 No comment
FBN2 100.00 0 No comment
FBXL4 100.00 0 No comment
FBXO38 100.00 0 No comment
FBXO7 99.78 0 No comment
FDX2 100.00 0 No comment
FGD4 99.98 0 No comment
FIG4 100.00 0 No comment
FKRP 100.00 0 No comment
FKTN 100.00 0 No comment
FLAD1 100.00 0 No comment
FLNC 100.00 0 No comment
FLRT1 100.00 0 No comment
FLVCR1 100.00 0 No comment
FOXRED1 100.00 0 No comment
FUS 100.00 0 No comment
FXN 94.27 0 No comment
GAA 100.00 0 No comment
GABRA3 99.59 0 No comment
GAD1 100.00 0 No comment
GALC 98.98 0 No comment
GAN 98.52 0 No comment
GARS1 97.89 0 No comment
GART 99.99 0 No comment
GBA1 100.00 0 No comment
GBA2 100.00 0 No comment
GBE1 100.00 0 No comment
GCH1 99.71 0 No comment
GDAP1 100.00 0 No comment
GFAP 100.00 0 No comment
GFER 99.09 0 No comment
GFPT1 99.94 0 No comment
GGPS1 100.00 0 No comment
GJB1 100.00 0 No comment
GJB3 100.00 0 No comment
GJC2 96.72 0 No comment
GLA 100.00 0 No comment
GLB1 100.00 0 No comment
GLE1 100.00 0 No comment
GLI3 100.00 0 No comment
GLTP 100.00 0 No comment
GMPPB 100.00 0 No comment
GNB4 100.00 0 No comment
GNE 100.00 0 No comment
GOLGA2 95.41 0 No comment
GOSR2 100.00 0 No comment
GSN 97.80 0 No comment
GYG1 94.40 0 No comment
GYS1 100.00 0 No comment
HACD1 94.60 0 No comment
HADHA 100.00 0 No comment
HADHB 100.00 0 No comment
HARS1 99.73 0 No comment
HEPACAM 99.85 0 No comment
HEXA 100.00 0 No comment
HEXB 99.19 0 No comment
HINT1 100.00 0 No comment
HK1 100.00 0 No comment
HNRNPA1 97.19 0 No comment
HNRNPA2B1 100.00 0 No comment
HNRNPDL 99.98 0 No comment
HOXD10 100.00 0 No comment
HRAS 100.00 0 No comment
HSD17B4 100.00 0 No comment
HSPB1 100.00 0 No comment
HSPB3 100.00 0 No comment
HSPB8 100.00 0 No comment
HSPD1 95.18 0 No comment
HSPG2 99.19 0 No comment
HYCC1 100.00 0 No comment
IBA57 92.01 0 No comment
IFIH1 100.00 0 No comment
IFRD1 98.86 0 No comment
IGHMBP2 99.38 0 No comment
INF2 99.92 0 No comment
INPP5K 99.31 0 No comment
ISCU 98.41 0 No comment
ITGA7 100.00 0 No comment
KARS1 100.00 0 No comment
KBTBD13 99.16 0 No comment
KCNA1 100.00 0 No comment
KCNE1 100.00 0 No comment
KCNE2 100.00 0 No comment
KCNE3 100.00 0 No comment
KCNH2 98.15 0 No comment
KCNJ12 100.00 0 No comment
KCNJ2 100.00 0 No comment
KCNQ1 100.00 0 No comment
KIF1A 98.74 0 No comment
KIF1B 99.84 0 No comment
KIF1C 100.00 0 No comment
KIF21A 98.54 0 No comment
KIF5A 100.00 0 No comment
KLC4 99.99 0 No comment
KLHL40 100.00 0 No comment
KLHL41 100.00 0 No comment
KLHL9 100.00 0 No comment
KY 100.00 0 No comment
L1CAM 99.98 0 No comment
LAMA2 100.00 0 No comment
LAMA5 98.39 0 No comment
LAMB2 100.00 0 No comment
LAMP2 99.60 0 No comment
LARGE1 100.00 0 No comment
LDB3 100.00 0 No comment
LDHA 99.42 0 No comment
LGI4 100.00 0 No comment
LIMS2 91.30 0 No comment
LITAF 100.00 0 No comment
LMNA 99.28 0 No comment
LMOD3 100.00 0 No comment
LPIN1 99.97 0 No comment
LRPPRC 98.80 0 No comment
LRSAM1 99.33 0 No comment
MAP3K20 100.00 0 No comment
MARS1 100.00 0 No comment
MARS2 100.00 0 No comment
MATR3 100.00 0 No comment
MB 100.00 0 No comment
MED12 99.98 0 No comment
MED25 100.00 0 No comment
MEGF10 99.99 0 No comment
MFN2 100.00 0 No comment
MLC1 98.57 0 No comment
MME 100.00 0 No comment
MORC2 100.00 0 No comment
MPV17 100.00 0 No comment
MPZ 99.80 0 No comment
MSTN 100.00 0 No comment
MTM1 99.91 0 No comment
MTMR14 99.92 0 No comment
MTMR2 99.55 0 No comment
MTPAP 99.98 0 No comment
MTRFR 100.00 0 No comment
MUSK 100.00 0 No comment
MYBPC1 100.00 0 No comment
MYBPC3 100.00 0 No comment
MYH2 100.00 0 No comment
MYH3 100.00 0 No comment
MYH4 100.00 0 No comment
MYH7 100.00 0 No comment
MYH7B 99.85 0 No comment
MYH8 100.00 0 No comment
MYL1 100.00 0 No comment
MYMK 100.00 0 No comment
MYO18B 99.80 0 No comment
MYO9A 99.74 0 No comment
MYOT 100.00 0 No comment
MYPN 99.97 0 No comment
NAGLU 96.69 0 No comment
NDRG1 100.00 0 No comment
NDUFA1 100.00 0 No comment
NDUFA10 96.45 0 No comment
NDUFA11 100.00 0 No comment
NDUFA12 100.00 0 No comment
NDUFA2 100.00 0 No comment
NDUFA3 100.00 0 No comment
NDUFA9 100.00 0 No comment
NDUFAF1 100.00 0 No comment
NDUFAF2 100.00 0 No comment
NDUFAF5 99.96 0 No comment
NDUFAF6 95.61 0 No comment
NDUFS1 100.00 0 No comment
NDUFS2 100.00 0 No comment
NDUFS3 100.00 0 No comment
NDUFS4 99.96 0 No comment
NDUFS7 93.34 0 No comment
NDUFS8 100.00 0 No comment
NDUFV1 99.62 0 No comment
NDUFV2 100.00 0 No comment
NEB 100.00 0 No comment
NEFH 81.41 0 No comment
NEFL 100.00 0 No comment
NEK1 99.98 0 No comment
NGF 100.00 0 No comment
NIPA1 92.99 0 No comment
NT5C2 100.00 0 No comment
NTRK1 98.36 0 No comment
NUBPL 99.92 0 No comment
OPA3 100.00 0 No comment
OPTN 100.00 0 No comment
ORAI1 92.14 0 No comment
P4HA1 100.00 0 No comment
PABPN1 100.00 0 No comment
PANK2 100.00 0 No comment
PDHA1 92.64 0 No comment
PDK3 97.80 0 No comment
PDYN 100.00 0 No comment
PET100 100.00 0 No comment
PEX1 100.00 0 No comment
PEX7 95.60 0 No comment
PFKM 100.00 0 No comment
PFN1 100.00 0 No comment
PGAM2 99.97 0 No comment
PGAP1 100.00 0 No comment
PGK1 99.88 0 No comment
PGM1 100.00 0 No comment
PHKA1 99.99 0 No comment
PHKB 99.97 0 No comment
PHOX2A 96.24 0 No comment
PHYH 99.81 0 No comment
PIEZO2 100.00 0 No comment
PIP5K1C 94.98 0 No comment
PLA2G6 100.00 0 No comment
PLEC 99.26 0 No comment
PLEKHG5 100.00 0 No comment
PLP1 100.00 0 No comment
PMP2 100.00 0 No comment
PMP22 100.00 0 No comment
PNKP 99.84 0 No comment
PNPLA2 98.21 0 No comment
PNPLA6 99.95 0 No comment
PNPLA8 100.00 0 No comment
POGLUT1 100.00 0 No comment
POLG 100.00 0 No comment
POLG2 100.00 0 No comment
POLR3A 100.00 0 No comment
POLR3B 100.00 0 No comment
POMGNT1 100.00 0 No comment
POMGNT2 100.00 0 No comment
POMK 100.00 0 No comment
POMT1 100.00 0 No comment
POMT2 99.53 0 No comment
PPP2R2B 100.00 0 No comment
PRDM12 81.28 0 No comment
PREPL 99.98 0 No comment
PRKAG2 95.75 0 No comment
PRNP 99.92 0 No comment
PRPH 99.62 0 No comment
PRPS1 99.91 0 No comment
PRUNE1 100.00 0 No comment
PRX 99.89 0 No comment
PSEN1 100.00 0 No comment
PTRH2 99.91 0 No comment
PUS1 100.00 0 No comment
PYGM 100.00 0 No comment
PYROXD1 99.99 0 No comment
RAB3GAP2 100.00 0 No comment
RAB7A 100.00 0 No comment
RAPSN 100.00 0 No comment
RBCK1 99.76 0 No comment
RBM7 100.00 0 No comment
REEP1 100.00 0 No comment
REEP2 97.04 0 No comment
RETREG1 93.72 0 No comment
RNASEH2B 94.58 0 No comment
RNASET2 100.00 0 No comment
RRM2B 100.00 0 No comment
RTN2 99.44 0 No comment
RXYLT1 100.00 0 No comment
RYR1 99.39 0 No comment
RYR3 100.00 0 No comment
SACS 99.95 0 No comment
SBF1 98.38 0 No comment
SBF2 99.92 0 No comment
SCN10A 100.00 0 No comment
SCN11A 99.98 0 No comment
SCN4A 100.00 0 No comment
SCN5A 100.00 0 No comment
SCN9A 99.99 0 No comment
SCO1 100.00 0 No comment
SCO2 93.85 0 No comment
SELENON 84.10 0 No comment
SEPTIN9 99.38 0 No comment
SETX 100.00 0 No comment
SGCA 100.00 0 No comment
SGCB 91.50 0 No comment
SGCD 100.00 0 No comment
SGCE 93.30 0 No comment
SGCG 100.00 0 No comment
SGPL1 100.00 0 No comment
SH3TC2 100.00 0 No comment
SIGMAR1 92.51 0 No comment
SIL1 99.95 0 No comment
SLC12A6 100.00 0 No comment
SLC16A1 100.00 0 No comment
SLC16A2 99.97 0 No comment
SLC18A3 100.00 0 No comment
SLC22A5 100.00 0 No comment
SLC25A15 100.00 0 No comment
SLC25A20 100.00 0 No comment
SLC25A4 99.81 0 No comment
SLC25A42 99.60 0 No comment
SLC25A46 100.00 0 No comment
SLC2A1 100.00 0 No comment
SLC33A1 100.00 0 No comment
SLC52A2 100.00 0 No comment
SLC52A3 99.86 0 No comment
SLC5A7 100.00 0 No comment
SMCHD1 100.00 0 No comment
SMN1 100.00 0 No comment
SNAP25 100.00 0 No comment
SOD1 100.00 0 No comment
SOX10 95.36 0 No comment
SPART 100.00 0 No comment
SPAST 99.83 0 No comment
SPEG 98.78 0 No comment
SPG11 100.00 0 No comment
SPG21 100.00 0 No comment
SPG7 95.78 0 No comment
SPR 99.98 0 No comment
SPTBN4 98.07 0 No comment
SPTLC1 99.27 0 No comment
SPTLC2 96.43 0 No comment
SQSTM1 94.05 0 No comment
SRPK3 98.13 0 No comment
STAC3 100.00 0 No comment
STIM1 100.00 0 No comment
SUCLA2 99.86 0 No comment
SUCLG1 93.27 0 No comment
SUN1 100.00 0 No comment
SURF1 100.00 0 No comment
SYNE1 100.00 0 No comment
SYNE2 100.00 0 No comment
SYT2 99.96 0 No comment
TACO1 99.66 0 No comment
TANGO2 99.94 0 No comment
TARDBP 100.00 0 No comment
TARS2 100.00 0 No comment
TBCE 100.00 0 No comment
TBK1 99.99 0 No comment
TCAP 100.00 0 No comment
TDP1 100.00 0 No comment
TECPR2 99.92 0 No comment
TFG 99.98 0 No comment
TGM6 100.00 0 No comment
TH 98.79 0 No comment
TIA1 100.00 0 No comment
TK2 100.00 0 No comment
TMEM43 100.00 0 No comment
TMEM65 90.50 0 No comment
TNNI2 100.00 0 No comment
TNNT1 94.05 0 No comment
TNNT3 100.00 0 No comment
TNPO3 100.00 0 No comment
TOR1A 99.70 0 No comment
TOR1AIP1 100.00 0 No comment
TPI1 99.90 0 No comment
TPM2 100.00 0 No comment
TPM3 98.74 0 No comment
TRAPPC11 99.97 0 No comment
TRIM2 100.00 0 No comment
TRIM32 100.00 0 No comment
TRIM54 96.63 0 No comment
TRIM63 100.00 0 No comment
TRIP4 100.00 0 No comment
TRMT5 100.00 0 No comment
TRPV4 100.00 0 No comment
TSFM 86.80 0 No comment
TTBK2 100.00 0 No comment
TTN 100.00 0 No comment
TTR 100.00 0 No comment
TUBA4A 100.00 0 No comment
TUBB3 99.01 0 No comment
TUBB4A 100.00 0 No comment
TWNK 100.00 0 No comment
TYMP 100.00 0 No comment
UBA1 100.00 0 No comment
UBQLN2 99.30 0 No comment
UNC13A 99.74 0 No comment
USP8 100.00 0 No comment
VAMP1 100.00 0 No comment
VAPB 99.77 0 No comment
VARS2 100.00 0 No comment
VCP 97.10 0 No comment
VMA21 77.99 0 No comment
VPS33B 100.00 0 No comment
VPS37A 99.28 0 No comment
VRK1 100.00 0 No comment
WARS1 100.00 0 No comment
WASHC5 100.00 0 No comment
WDR45 100.00 0 No comment
WDR48 100.00 0 No comment
WNK1 100.00 0 No comment
WWTR1 97.30 0 No comment
XK 99.44 0 No comment
YARS1 100.00 0 No comment
YARS2 100.00 0 No comment
ZC4H2 100.00 0 No comment
ZFHX2 100.00 0 No comment
ZFR 100.00 0 No comment
ZFYVE26 100.00 0 No comment
ZFYVE27 100.00 0 No comment