Terug
Epilepsie
Epilepsie volledig genpanel EPI00v18.1
200 genen
Genpanel dekking 15X: 99.2 %
200 genen
Genpanel dekking 15X: 99.2 %
EPI00v18.1
06-07-2023
STXBP1
DNM1
COQ4
SPTAN1
KCNT1
GRIN1
KCNMA1
ATAD1
LGI1
SLC25A22
CTSD
TPP1
DENND5A
KCNC1
SLC6A5
RNASEH2C
FOLR1
KMT2A
GRIN2B
PRICKLE1
SCN8A
NBEA
RNASEH2B
CLN5
FOXG1
GPHN
IRF2BPL
PRIMA1
UBE3A
GABRB3
CLN6
AP3B2
POLG
CHD2
NPRL3
TBC1D24
ROGDI
GRIN2A
CLN3
PRRT2
STX1B
GNAO1
AARS
WWOX
GCSH
ANKRD11
SLC13A5
RAI1
GRN
GOSR2
PNPO
TCF4
PIGN
GAMT
RNASEH2A
CACNA1A
CERS1
SCN1B
ATP1A3
GRIN2D
PNKP
PLCB1
SNAP25
NAPB
SAMHD1
PIGT
SLC12A5
KCNB1
CHRNA4
KCNQ2
EEF1A2
DNAJC5
SYNJ1
SON
DYRK1A
SIK1
DEPDC5
ADSL
SHANK3
CLCN4
OFD1
PIGA
CDKL5
RPS6KA3
CNKSR2
SMS
ARX
ATP6AP2
CASK
SYN1
PQBP1
SLC35A2
WDR45
SYP
KDM5C
IQSEC2
SMC1A
HSD17B10
MTOR
MTHFR
PPT1
SLC2A1
SZT2
ST3GAL3
CPT2
DOCK7
KCNA2
KCND3
PHGDH
CHRNB2
KCNJ10
ATP1A2
KCNH1
TBCE
HNRNPU
NRXN1
RANBP2
ZEB2
MBD5
CACNB4
SCN2A
SCN1A
SLC19A3
SLC6A1
HUWE1
FGD1
ARHGEF9
OPHN1
MED12
KIAA2022
ATRX
PCDH19
PLP1
PAK3
DCX
ALG13
UBE2A
CUL4B
GRIA3
ZDHHC9
GPC3
PHF6
SLC9A6
GABRA3
NSDHL
SLC6A8
HCFC1
MECP2
FLNA
RAB39B
TREX1
QARS
AMT
NPRL2
PRICKLE2
CASR
SCARB2
MAPK10
MFSD8
GLRB
TRIO
SLC1A3
HCN1
MOCS2
MEF2C
ALDH7A1
PURA
GLRA1
GABRA1
GABRG2
NHLRC1
SYNGAP1
MOCS1
GRIK2
EPM2A
BRAT1
PSPH
KCTD7
KPNA7
RELN
CNTNAP2
CLN8
ASAH1
CHRNA2
CPA6
KCNQ3
GLDC
PIGO
PSAT1
STXBP1
DNM1
COQ4
SPTAN1
KCNT1
GRIN1
KCNMA1
LGI1
SLC25A22
CTSD
TPP1
DENND5A
KCNC1
SLC6A5
RNASEH2C
FOLR1
KMT2A
GRIN2B
PRICKLE1
SCN8A
RNASEH2B
CLN5
FOXG1
GPHN
PRIMA1
UBE3A
GABRB3
CLN6
POLG
CHD2
NPRL3
TBC1D24
ROGDI
GRIN2A
CLN3
PRRT2
STX1B
GNAO1
GCSH
SLC13A5
RAI1
GRN
GOSR2
PNPO
TCF4
PIGN
GAMT
RNASEH2A
CACNA1A
CERS1
SCN1B
ATP1A3
GRIN2D
PNKP
PLCB1
NAPB
SAMHD1
PIGT
SLC12A5
CHRNA4
KCNQ2
EEF1A2
DNAJC5
SYNJ1
SON
DYRK1A
SIK1
DEPDC5
ADSL
SHANK3
OFD1
PIGA
CDKL5
RPS6KA3
CNKSR2
SMS
ARX
ATP6AP2
CASK
SYN1
PQBP1
SLC35A2
WDR45
SYP
KDM5C
IQSEC2
SMC1A
HSD17B10
HUWE1
FGD1
ARHGEF9
OPHN1
MED12
KIAA2022
ATRX
PCDH19
PLP1
PAK3
DCX
ALG13
UBE2A
CUL4B
GRIA3
ZDHHC9
GPC3
PHF6
SLC9A6
NSDHL
SLC6A8
HCFC1
MECP2
FLNA
RAB39B
MTOR
MTHFR
PPT1
SLC2A1
SZT2
ST3GAL3
CPT2
DOCK7
KCNA2
KCND3
PHGDH
CHRNB2
KCNJ10
ATP1A2
KCNH1
ARV1
TBCE
HNRNPU
NRXN1
RANBP2
ZEB2
MBD5
CACNB4
SCN2A
SCN1A
PGAP1
SLC19A3
SLC6A1
TREX1
QARS
AMT
NPRL2
PRICKLE2
UBA5
UGDH
SCARB2
PPP3CA
TBCK
MFSD8
GLRB
CTNND2
TRIO
SLC1A3
HCN1
MOCS2
MEF2C
ALDH7A1
PURA
GLRA1
GABRA1
GABRG2
NHLRC1
CSNK2B
SYNGAP1
MOCS1
KCNQ5
GRIK2
EPM2A
BRAT1
PSPH
KCTD7
MDH2
YWHAG
KPNA7
ACTL6B
RELN
CNTNAP2
CLN8
ASAH1
CHRNA2
INTS8
KCNQ3
GLDC
PIGO
PSAT1
FRRS1L
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-
Epilepsie volledig genpanel EPI00v17.1
178 genen
Genpanel dekking 15X: 99.2 %
178 genen
Genpanel dekking 15X: 99.2 %
EPI00v17.1
06-07-2023
STXBP1
DNM1
COQ4
SPTAN1
KCNT1
GRIN1
KCNMA1
ATAD1
LGI1
SLC25A22
CTSD
TPP1
DENND5A
KCNC1
SLC6A5
RNASEH2C
FOLR1
KMT2A
GRIN2B
PRICKLE1
SCN8A
NBEA
RNASEH2B
CLN5
FOXG1
GPHN
IRF2BPL
PRIMA1
UBE3A
GABRB3
CLN6
AP3B2
POLG
CHD2
NPRL3
TBC1D24
ROGDI
GRIN2A
CLN3
PRRT2
STX1B
GNAO1
AARS
WWOX
GCSH
ANKRD11
SLC13A5
RAI1
GRN
GOSR2
PNPO
TCF4
PIGN
GAMT
RNASEH2A
CACNA1A
CERS1
SCN1B
ATP1A3
GRIN2D
PNKP
PLCB1
SNAP25
NAPB
SAMHD1
PIGT
SLC12A5
KCNB1
CHRNA4
KCNQ2
EEF1A2
DNAJC5
SYNJ1
SON
DYRK1A
SIK1
DEPDC5
ADSL
SHANK3
CLCN4
OFD1
PIGA
CDKL5
RPS6KA3
CNKSR2
SMS
ARX
ATP6AP2
CASK
SYN1
PQBP1
SLC35A2
WDR45
SYP
KDM5C
IQSEC2
SMC1A
HSD17B10
MTOR
MTHFR
PPT1
SLC2A1
SZT2
ST3GAL3
CPT2
DOCK7
KCNA2
KCND3
PHGDH
CHRNB2
KCNJ10
ATP1A2
KCNH1
TBCE
HNRNPU
NRXN1
RANBP2
ZEB2
MBD5
CACNB4
SCN2A
SCN1A
SLC19A3
SLC6A1
HUWE1
FGD1
ARHGEF9
OPHN1
MED12
KIAA2022
ATRX
PCDH19
PLP1
PAK3
DCX
ALG13
UBE2A
CUL4B
GRIA3
ZDHHC9
GPC3
PHF6
SLC9A6
GABRA3
NSDHL
SLC6A8
HCFC1
MECP2
FLNA
RAB39B
TREX1
QARS
AMT
NPRL2
PRICKLE2
CASR
SCARB2
MAPK10
MFSD8
GLRB
TRIO
SLC1A3
HCN1
MOCS2
MEF2C
ALDH7A1
PURA
GLRA1
GABRA1
GABRG2
NHLRC1
SYNGAP1
MOCS1
GRIK2
EPM2A
BRAT1
PSPH
KCTD7
KPNA7
RELN
CNTNAP2
CLN8
ASAH1
CHRNA2
CPA6
KCNQ3
GLDC
PIGO
PSAT1
STXBP1
DNM1
COQ4
SPTAN1
KCNT1
GRIN1
KCNMA1
LGI1
SLC25A22
CTSD
TPP1
DENND5A
KCNC1
SLC6A5
RNASEH2C
FOLR1
KMT2A
GRIN2B
PRICKLE1
SCN8A
RNASEH2B
CLN5
FOXG1
GPHN
PRIMA1
UBE3A
GABRB3
CLN6
POLG
CHD2
NPRL3
TBC1D24
ROGDI
GRIN2A
CLN3
PRRT2
STX1B
GNAO1
GCSH
SLC13A5
RAI1
GRN
GOSR2
PNPO
TCF4
PIGN
GAMT
RNASEH2A
CACNA1A
CERS1
SCN1B
ATP1A3
GRIN2D
PNKP
PLCB1
NAPB
SAMHD1
PIGT
SLC12A5
CHRNA4
KCNQ2
EEF1A2
DNAJC5
SYNJ1
SON
DYRK1A
SIK1
DEPDC5
ADSL
SHANK3
OFD1
PIGA
CDKL5
RPS6KA3
CNKSR2
SMS
ARX
ATP6AP2
CASK
SYN1
PQBP1
SLC35A2
WDR45
SYP
KDM5C
IQSEC2
SMC1A
HSD17B10
HUWE1
FGD1
ARHGEF9
OPHN1
MED12
KIAA2022
ATRX
PCDH19
PLP1
PAK3
DCX
ALG13
UBE2A
CUL4B
GRIA3
ZDHHC9
GPC3
PHF6
SLC9A6
NSDHL
SLC6A8
HCFC1
MECP2
FLNA
RAB39B
MTOR
MTHFR
PPT1
SLC2A1
SZT2
ST3GAL3
CPT2
DOCK7
KCNA2
KCND3
PHGDH
CHRNB2
KCNJ10
ATP1A2
KCNH1
ARV1
TBCE
HNRNPU
NRXN1
RANBP2
ZEB2
MBD5
CACNB4
SCN2A
SCN1A
PGAP1
SLC19A3
SLC6A1
TREX1
QARS
AMT
NPRL2
PRICKLE2
UBA5
UGDH
SCARB2
PPP3CA
TBCK
MFSD8
GLRB
CTNND2
TRIO
SLC1A3
HCN1
MOCS2
MEF2C
ALDH7A1
PURA
GLRA1
GABRA1
GABRG2
NHLRC1
CSNK2B
SYNGAP1
MOCS1
KCNQ5
GRIK2
EPM2A
BRAT1
PSPH
KCTD7
MDH2
YWHAG
KPNA7
ACTL6B
RELN
CNTNAP2
CLN8
ASAH1
CHRNA2
INTS8
KCNQ3
GLDC
PIGO
PSAT1
FRRS1L
Dekkingspercentage
CreV2 (15X)
-
SSv7 (15X)
-
Transcript
-