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Neuromusculaire ziekten
NMZ die het perifere zenuwstelsel betreffen NEM27v19.1
290 genen
Genpanel dekking 15X: 99.3 %
290 genen
Genpanel dekking 15X: 99.3 %
NEM27v19.1
06-07-2023
PMP22
TCAP
PTRF
NAGLU
CNTNAP1
SGCA
PTRH2
SCN4A
POLG2
sep-09
GAA
SMCHD1
TTR
CTDP1
PIP5K1C
DNMT1
DNM2
SLC25A42
RYR1
PRX
SPTBN4
DMPK
FKRP
MED25
PNKP
TNNT1
SLC52A3
SNAP25
DPM1
VAPB
LAMA5
SOD1
COL6A1
COL6A2
CHCHD10
MYO18B
NEFH
MORC2
LARGE
SBF1
CHKB
PDK3
DMD
UBA1
UBQLN2
AR
GJB1
ATP7A
PRPS1
ALG13
AIFM1
FHL1
MTM1
VMA21
EMD
AGRN
PLEKHG5
KIF1B
TARDBP
MFN2
HSPG2
SEPN1
TRIM63
YARS
GJB3
POMGNT1
ALG14
NGF
TPM3
DPM3
LMNA
NTRK1
CASQ1
DCAF8
MPZ
TOR1AIP1
CACNA1S
SYT2
ACTA1
B3GALNT2
TRIM54
PREPL
GFPT1
TIA1
DYSF
DCTN1
REEP1
SLC5A7
BIN1
LIMS2
NEB
ACVR1
SCN9A
KLHL41
MLTK
CHRNA1
HOXD10
TTN
MSTN
ALS2
FASTKD2
ERBB4
TUBA4A
DNAJB2
DES
SPEG
CHRND
CHRNG
COL6A3
KIF1A
CAV3
TMEM43
COLQ
SCN11A
KLHL40
POMGNT2
LAMB2
DAG1
GMPPB
LMOD3
CHMP2B
TFG
POGLUT1
RAB7A
CNBP
KY
MME
GNB4
OPA1
DOK7
SGCB
HNRNPDL
TRIM2
TRAPPC11
SLC25A4
DUX4
CCT5
FAM134B
HSPB3
HEXB
MEGF10
HINT1
MYOT
MATR3
HARS
FBXO38
SH3TC2
SGCD
SQSTM1
DST
COL12A1
BVES
FIG4
LAMA2
SYNE1
ISPD
GARS
HSPB1
SGCE
FLNC
TNPO3
CLCN1
DNAJB6
ARHGEF10
ASAH1
NEFL
POMK
GDAP1
PMP2
RRM2B
TMEM65
NDRG1
PLEC
SLC52A2
KLHL9
SIGMAR1
VCP
POMT2
TPM2
GNE
EXOSC3
SPTLC1
BICD2
ALG2
FKTN
IKBKAP
MUSK
TRIM32
LRSAM1
DPM2
GOLGA2
GLE1
TOR1A
PRDM12
POMT1
SETX
SURF1
TMEM8C
DHTKD1
OPTN
PTPLA
CHAT
EGR2
MYPN
HK1
COL13A1
SGPL1
ASCC1
LDB3
C10orf2
BAG3
HRAS
TNNI2
TNNT3
STIM1
SBF2
ANO5
LRP4
MYBPC3
RAPSN
FAM111B
BSCL2
ATL3
PYGM
B3GNT1
IGHMBP2
PHOX2A
DGAT2
MTMR2
CRYAB
RBM7
DPAGT1
WNK1
VAMP1
PYROXD1
FGD4
YARS2
KIF21A
CNTN1
PRPH
HNRNPA1
ITGA7
ERBB3
MARS
KIF5A
TMEM5
ISCU
TRPV4
HSPB8
COX6A1
ORAI1
PUS1
SGCG
EXOSC8
SUCLA2
ANG
PABPN1
MYH7
CFL2
ATL1
SYNE2
SPTLC2
FBLN5
VRK1
WARS
DYNC1H1
INF2
ADSSL1
SLC12A6
CAPN3
SPG11
TRIP4
KBTBD13
MYO9A
POLG
LITAF
CLN3
ATP2A1
FUS
TK2
AARS
KARS
GAN
TUBB3
INPP5K
CHRNE
PFN1
CHRNB1
MYH8
MYH2
MYH3
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-
NMZ die het perifere zenuwstelsel betreffen NEM27v19.2
289 genen
Genpanel dekking 15X: 99.4 %
289 genen
Genpanel dekking 15X: 99.4 %
NEM27v19.2
06-07-2023
AGRN
PLEKHG5
KIF1B
TARDBP
MFN2
HSPG2
SEPN1
TRIM63
YARS
GJB3
POMGNT1
ALG14
NGF
TPM3
DPM3
LMNA
NTRK1
CASQ1
DCAF8
MPZ
TOR1AIP1
CACNA1S
SYT2
ACTA1
B3GALNT2
TRIM54
PREPL
GFPT1
TIA1
DYSF
DCTN1
REEP1
SLC5A7
BIN1
LIMS2
NEB
ACVR1
SCN9A
KLHL41
MLTK
CHRNA1
HOXD10
TTN
MSTN
ALS2
FASTKD2
ERBB4
TUBA4A
DNAJB2
DES
SPEG
CHRND
CHRNG
COL6A3
KIF1A
CAV3
TMEM43
COLQ
SCN11A
KLHL40
POMGNT2
LAMB2
DAG1
GMPPB
LMOD3
CHMP2B
TFG
POGLUT1
RAB7A
CNBP
KY
MME
GNB4
OPA1
DOK7
SGCB
HNRNPDL
TRIM2
TRAPPC11
SLC25A4
CCT5
FAM134B
HSPB3
HEXB
MEGF10
HINT1
MYOT
MATR3
HARS
FBXO38
SH3TC2
SGCD
SQSTM1
DST
COL12A1
BVES
FIG4
LAMA2
SYNE1
ISPD
GARS
HSPB1
SGCE
FLNC
TNPO3
CLCN1
DNAJB6
ARHGEF10
ASAH1
NEFL
POMK
GDAP1
PMP2
RRM2B
TMEM65
NDRG1
PLEC
SLC52A2
KLHL9
SIGMAR1
VCP
TPM2
GNE
EXOSC3
SPTLC1
BICD2
ALG2
FKTN
IKBKAP
MUSK
TRIM32
LRSAM1
DPM2
GOLGA2
GLE1
TOR1A
PRDM12
POMT1
SETX
SURF1
TMEM8C
DHTKD1
OPTN
PTPLA
CHAT
EGR2
MYPN
HK1
COL13A1
SGPL1
ASCC1
LDB3
C10orf2
BAG3
HRAS
TNNI2
TNNT3
STIM1
MORC2
SBF2
ANO5
LRP4
MYBPC3
RAPSN
FAM111B
BSCL2
ATL3
PYGM
B3GNT1
IGHMBP2
PHOX2A
DGAT2
MTMR2
CRYAB
RBM7
DPAGT1
WNK1
VAMP1
PYROXD1
FGD4
YARS2
KIF21A
CNTN1
PRPH
HNRNPA1
ITGA7
ERBB3
MARS
KIF5A
TMEM5
ISCU
TRPV4
HSPB8
COX6A1
ORAI1
PUS1
SGCG
EXOSC8
SUCLA2
ANG
PABPN1
MYH7
CFL2
ATL1
SYNE2
POMT2
SPTLC2
FBLN5
VRK1
WARS
DYNC1H1
INF2
ADSSL1
SLC12A6
CAPN3
SPG11
TRIP4
KBTBD13
MYO9A
POLG
LITAF
CLN3
ATP2A1
FUS
TK2
AARS
KARS
GAN
TUBB3
INPP5K
CHRNE
PFN1
CHRNB1
MYH8
MYH2
MYH3
PMP22
TCAP
PTRF
NAGLU
CNTNAP1
SGCA
PTRH2
SCN4A
POLG2
sep-09
GAA
SMCHD1
TTR
CTDP1
PIP5K1C
DNMT1
DNM2
SLC25A42
RYR1
PRX
SPTBN4
DMPK
FKRP
MED25
PNKP
TNNT1
SLC52A3
SNAP25
DPM1
VAPB
LAMA5
SOD1
COL6A1
COL6A2
CHCHD10
MYO18B
NEFH
LARGE
SBF1
CHKB
PDK3
DMD
UBA1
UBQLN2
AR
GJB1
ATP7A
PRPS1
ALG13
AIFM1
FHL1
MTM1
VMA21
EMD
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-