Terug
Neuromusculaire ziekten
Breed NMZ panel NEM27v19.1
291 genen
Genpanel dekking 15X: 99.4 %
291 genen
Genpanel dekking 15X: 99.4 %
NEM27v19.1
12-11-2024
SEPTIN9
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Breed NMZ panel NEM27v19.2
290 genen
Genpanel dekking 15X: 99.5 %
290 genen
Genpanel dekking 15X: 99.5 %
NEM27v19.2
12-11-2024
SEPTIN9
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Breed NMZ panel NEM27v22.1
429 genen
Genpanel dekking 15X: 99.5 %
429 genen
Genpanel dekking 15X: 99.5 %
NEM27v22.1
19-02-2025
AGRN
TMEM240
PLEKHG5
KIF1B
MFN2
VPS13D
ATP13A2
PAX7
HSPG2
SEPN1
TRIM63
YARS
GJB3
POMGNT1
COA7
CPT2
PGM1
ALG14
AGL
AMPD2
KCND3
AP4B1
NGF
ATP1A1
GDAP2
TPM3
FLAD1
DPM3
MSTO1
LMNA
NTRK1
CASQ1
DCAF8
MPZ
TOR1AIP1
CACNA1S
SYT2
ADCK3
GJC2
IBA57
OBSCN
ACTA1
B3GALNT2
ACTN2
KIDINS220
LPIN1
TRIM54
SPAST
PREPL
GFPT1
TIA1
DYSF
DCTN1
REEP1
SLC5A7
BIN1
LIMS2
NEB
CACNB4
ACVR1
SCN9A
KLHL41
MLTK
CHRNA1
HOXD10
TTN
MSTN
HSPD1
MARS2
ALS2
FASTKD2
MYL1
DNAJB2
DES
SPEG
ECEL1
CHRND
CHRNG
COL6A3
KIF1A
ITPR1
CAV3
ATG7
TMEM43
COLQ
SCN10A
SCN11A
KLHL40
POMGNT2
ANO10
ABHD5
SLC25A20
LAMB2
DAG1
GMPPB
LMOD3
GBE1
TFG
POGLUT1
RAB7A
ACAD9
KY
GYG1
MME
SLC33A1
GNB4
FXR1
OPA1
DOK7
SGCB
HNRNPDL
GRID2
CYP2U1
TRPC3
TRIM2
ETFDH
TRAPPC11
SLC25A4
CCT5
FAM134B
SLC1A3
HSPB3
HEXB
MEGF10
HINT1
SLC22A5
MYOT
SIL1
HARS
FBXO38
SH3TC2
SGCD
THG1L
SQSTM1
FARS2
TDP2
ELOVL5
DST
COL12A1
ELOVL4
SNX14
HACE1
BVES
POPDC3
FIG4
LAMA2
PEX7
GRM1
SYNE1
AP5Z1
RNF216
ISPD
HNRNPA2B1
GARS
PGAM2
HSPB1
SGCE
AP4M1
PNPLA8
IFRD1
FLNC
TNPO3
CLCN1
PRKAG2
DNAJB6
ARHGEF10
VPS37A
ASAH1
NEFL
ERLIN2
DDHD2
POMK
TTPA
CYP7B1
GDAP1
PMP2
RRM2B
TMEM65
KIAA0196
NDRG1
PLEC
SLC52A2
KLHL9
APTX
UBAP1
SIGMAR1
VCP
TPM2
GBA2
GNE
EXOSC3
FXN
SPTLC1
BICD2
ALG2
FKTN
IKBKAP
MUSK
TRIM32
LRSAM1
DPM2
GOLGA2
GLE1
TOR1A
PRDM12
POMT1
SETX
SURF1
TMEM8C
DHTKD1
PHYH
PTPLA
MTPAP
CHAT
EGR2
MYPN
HK1
COL13A1
SGPL1
ASCC1
MICU1
LDB3
ALDH18A1
ENTPD1
ZFYVE27
ERLIN1
CWF19L1
C10orf2
NT5C2
BAG3
EBF3
HRAS
PNPLA2
TNNI2
TNNT3
STIM1
SBF2
LDHA
ANO5
LRP4
MYBPC3
RAPSN
FAM111B
BSCL2
ATL3
PYGM
CAPN1
SCYL1
KLC2
B3GNT1
SPTBN2
IGHMBP2
PHOX2A
KCNE3
DGAT2
MRE11A
MTMR2
ATM
CRYAB
DPAGT1
KCNJ5
WNK1
KCNA1
VAMP1
PYROXD1
FGD4
YARS2
KIF21A
CNTN1
PFKM
HNRNPA1
ITGA7
ERBB3
STAC3
MARS
KIF5A
B4GALNT1
TMEM5
MYF6
ISCU
TRPV4
MYL2
HSPB8
COX6A1
ORAI1
C12orf65
PUS1
SGCG
SACS
SPG20
EXOSC8
SUCLA2
FGF14
PABPN1
MYH7
AP4S1
CFL2
ATL1
DDHD1
SYNE2
ZFYVE26
POMT2
VIPAS39
SPTLC2
TDP1
CCDC88C
FBLN5
VRK1
WARS
DYNC1H1
TECPR2
INF2
ADSSL1
NIPA1
SLC12A6
CAPN3
TTBK2
SPG11
SORD
AP4E1
TRIP4
SPG21
KBTBD13
MYO9A
ETFA
POLG
STUB1
CCDC78
LITAF
ARL6IP1
CLN3
ATP2A1
BEAN1
TK2
AARS
FA2H
KARS
GAN
SPG7
TUBB3
INPP5K
CHRNE
ENO3
KIF1C
ACADVL
CHRNB1
MYH8
MYH2
MYH3
PMP22
TTC19
ALDH3A2
KCNJ18
TCAP
PTRF
NAGLU
CNTNAP1
SGCA
CACNA1G
PTRH2
SCN4A
POLG2
KCNJ2
sep-09
GAA
SMCHD1
AFG3L2
TTR
CTDP1
PIP5K1C
EEF2
PNPLA6
DNMT1
DNM2
CACNA1A
SLC25A42
C19orf12
MAG
RYR1
PRX
SPTBN4
RTN2
FKRP
GYS1
MED25
PNKP
KCNC3
ETFB
PRKCG
TNNT1
RBCK1
SLC52A3
PDYN
TGM6
NOP56
SNAP25
DPM1
KCNE2
KCNE1
COL6A1
COL6A2
CHCHD10
MYO18B
NEFH
MORC2
LARGE
SBF1
CHKB
ARSA
PDK3
DMD
UBA1
AR
GJB1
PHKA1
ATP7A
PGK1
GLA
PLP1
PRPS1
KCNE1L
ALG13
LAMP2
AIFM1
FHL1
MTM1
VMA21
ABCD1
L1CAM
EMD
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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