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NGS Epilepsy

Panel name NGS Epilepsy
Panel method WES-based NGS
Panel version ** v3
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (393) Quality % coverage >30 % coverage >20 Core-NL Note
AARS1
ABAT
ABCC8
ACTB
ACTL6B
ACY1
ADAM22
ADSL
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG13
ALG3
ALG6
AMACR
AMPD2
AMT
ANKRD11
AP3B2
ARHGEF9
ARID1B
ARV1
ARX
ASAH1
ASL
ASNS
ASXL3
ATAD1
ATP1A2
ATP1A3
ATP6AP2
ATP7A
ATRX
AUTS2
BOLA3
BRAT1
BTD
CACNA1A
CACNA1E
CACNA2D2
CACNB4
CAD
CASK
CBS
CDKL5
CERS1
CERT1
CHD2
CHRNA2
CHRNA4
CHRNA7
CHRNB2
CIC
CILK1
CLCN4
CLDN16
CLDN19
CLN3
CLN5
CLN6
CLN8
CNKSR2
CNNM2
CNTN2
CNTNAP2
COA8
COL4A1
COLGALT1
COQ2
COQ4
COQ8A
CPA6
CPS1
CPT1A
CPT2
CSNK2B
CSTB
CTNND2
CTSD
CTSF
CUL4B
CUX2
D2HGDH
DCX
DDX3X
DENND5A
DEPDC5
DHDDS
DLAT
DNAJC5
DNM1
DNM1L
DOCK7
DPAGT1
DPM1
DPM2
DPYD
DPYS
DYNC1H1
DYRK1A
EEF1A2
EFHC1
EGF
EHMT1
EPM2A
ETHE1
EXOSC3
FA2H
FARS2
FASN
FGD1
FGF12
FLNA
FOLR1
FOXG1
FOXRED1
FRMPD4
FRRS1L
FXYD2
GABBR2
GABRA1
GABRA2
GABRA3
GABRB2
GABRB3
GABRE
GABRG2
GAMT
GCK
GCSH
GLDC
GLRA1
GLRB
GLUD1
GNAO1
GNB1
GOSR2
GPC3
GPHN
GRIA2
GRIA3
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRN
HACE1
HADH
HCFC1
HCN1
HCN2
HDAC4
HLCS
HNRNPU
HPRT1
HSD17B10
HSD17B4
HUWE1
IDH2
IER3IP1
IFIH1
INTS8
IQSEC2
IRF2BPL
ITPA
JAM3
KANSL1
KATNB1
KCNA1
KCNA2
KCNB1
KCNC1
KCND3
KCNH1
KCNJ10
KCNJ11
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCTD7
KDM5C
KMT2A
KPNA7
KPTN
LAMB1
LGI1
LIAS
MBD5
MDH2
MECP2
MED12
MEF2C
MFF
MFSD8
MLC1
MOCS1
MOCS2
MPDU1
MPDZ
MTHFR
MTOR
MTRR
NACC1
NALCN
NANS
NAPB
NBEA
NDUFA1
NDUFA11
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEU1
NEXMIF
NGLY1
NHLRC1
NPRL2
NPRL3
NRXN1
NSDHL
NUBPL
OCLN
OFD1
OPHN1
PAFAH1B1
PAK3
PC
PCDH19
PDHA1
PDHB
PDP1
PDX1
PET100
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX19
PEX26
PEX3
PEX5
PEX6
PGAP1
PGAP3
PHF6
PHGDH
PIGA
PIGH
PIGN
PIGO
PIGP
PIGT
PIGV
PLA2G6
PLCB1
PLP1
PLPBP
PMM2
PNKP
PNPO
POLG
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRF1
PRICKLE1
PRICKLE2
PRIMA1
PRPS1
PRRT2
PSAP
PSAT1
PSPH
PUM1
PURA
PYCR2
QARS1
RAB39B
RAI1
RANBP2
RARS2
RELN
RNASEH2A
RNASEH2B
RNASEH2C
ROGDI
RPS6KA3
RRM2B
SAMHD1
SATB2
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SEPSECS
SERPINI1
SHANK3
SIK1
SLC12A5
SLC13A5
SLC16A1
SLC16A2
SLC19A3
SLC1A2
SLC1A3
SLC25A1
SLC25A15
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SLC6A5
SLC6A8
SLC9A6
SMARCA2
SMC1A
SMPD4
SMS
SNAP25
SON
SPATA5
SPTAN1
SRPX2
ST3GAL3
ST3GAL5
STX1B
STXBP1
SUOX
SYN1
SYNGAP1
SYNJ1
SYP
SZT2
TANGO2
TBC1D23
TBC1D24
TBCD
TBCE
TBCK
TCF4
TDP2
TOE1
TPP1
TREX1
TRIO
TRPM6
TSC1
TSC2
TSEN15
TSEN2
TSEN54
TUBA1A
TUBB2A
TUBB2B
TUBB4A
TUBG1
UBA5
UBE2A
UBE3A
UBTF
UGDH
UGP2
VPS53
WDR26
WDR45
WWOX
XK
YWHAG
ZDHHC9
ZEB2
Indication(s)
Epilepsy

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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