NGS Epilepsie

Panel naam	NGS Epilepsie
Panel methode	Wes-based NGS
Panel versie **	v3
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC

Genen (393)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AARS1	C	100.00	100.00		NM_001605.3
ABAT	C	100.00	100.00		NM_020686.6
ABCC8	C	100.00	100.00		NM_000352.6
ACTB	C	100.00	100.00		NM_001101.5
ACTL6B	C	99.45	99.95		NM_016188.5
ACY1	C	100.00	100.00		NM_000666.3
ADAM22	C	99.94	100.00		NM_001324418.2
ADSL	C	100.00	100.00		NM_000026.4
ALDH5A1	C	99.93	100.00		NM_001080.3
ALDH7A1	C	99.98	100.00		NM_001182.5
ALG1	C	86.66	86.67		NM_019109.5
ALG11	C	100.00	100.00		NM_001004127.3
ALG13	C	99.42	99.92		NM_001099922.3
ALG3	C	100.00	100.00		NM_005787.6
ALG6	C	99.57	99.99		NM_013339.4
AMACR	C	100.00	100.00		NM_014324.6
AMPD2	C	99.67	99.98		NM_001368809.2
AMT	C	100.00	100.00		NM_000481.4
ANKRD11	C	99.67	99.94		NM_013275.6
AP3B2	C	100.00	100.00		NM_001278512.2
ARHGEF9	C	100.00	100.00		NM_001353921.2
ARID1B	C	96.96	97.78		NM_001374828.1
ARV1	C	100.00	100.00		NM_022786.3
ARX	C	86.25	89.24		NM_139058.3
ASAH1	C	100.00	100.00		NM_177924.5
ASL	C	100.00	100.00		NM_000048.4
ASNS	C	99.99	100.00		NM_001673.5
ASXL3	C	100.00	100.00		NM_030632.3
ATAD1	C	100.00	100.00		NM_001321967.2
ATP1A2	C	99.99	100.00		NM_000702.4
ATP1A3	C	100.00	100.00		NM_152296.5
ATP6AP2	C	99.95	100.00		NM_005765.3
ATP7A	C	99.97	99.99		NM_000052.7
ATRX	C	99.92	99.99		NM_000489.5
AUTS2	C	99.95	100.00		NM_015570.4
BOLA3	C	99.96	100.00		NM_212552.3
BRAT1	C	100.00	100.00		NM_152743.4
BTD	C	100.00	100.00		NM_001370658.1
CACNA1A	C	98.14	98.14		NM_001127222.2
CACNA1E	C	99.99	100.00		NM_001205293.3
CACNA2D2	C	99.87	99.98		NM_006030.4
CACNB4	C	99.94	100.00		NM_000726.5
CAD	C	99.9	100.00		NM_004341.5
CASK	C	99.99	100.00		NM_001367721.1
CBS	C	100.00	100.00		NM_000071.3
CDKL5	C	99.92	99.99		NM_001323289.2
CERS1	C	96.66	98.14		NM_021267.5
CERT1	C	100.00	100.00		NM_001379029.1
CHD2	C	100.00	100.00		NM_001271.4
CHRNA2	C	100.00	100.00		NM_000742.4
CHRNA4	C	100.00	100.00		NM_000744.7
CHRNA7	C	74.83	78.49		NM_000746.6
CHRNB2	C	100.00	100.00		NM_000748.3
CIC	C	98.53	98.53		NM_001386298.1
CILK1	C	100.00	100.00		NM_014920.5
CLCN4	C	100.00	100.00		NM_001830.4
CLDN16	C	100.00	100.00		NM_006580.4
CLDN19	C	99.85	99.99		NM_148960.3
CLN3	C	99.96	100.00		NM_001042432.2
CLN5	C	100.00	100.00		NM_006493.4
CLN6	C	100.00	100.00		NM_017882.3
CLN8	C	100.00	100.00		NM_018941.4
CNKSR2	C	99.96	100.00		NM_014927.5
CNNM2	C	100.00	100.00		NM_017649.5
CNTN2	C	99.92	99.98		NM_005076.5
CNTNAP2	C	100.00	100.00		NM_014141.6
COA8	C	100.00	100.00		NM_001370595.2
COL4A1	C	99.99	100.00		NM_001845.6
COLGALT1	C	99.89	99.94		NM_024656.4
COQ2	C	100.00	100.00		NM_001358921.2
COQ4	C	100.00	100.00		NM_016035.5
COQ8A	C	100.00	100.00		NM_020247.5
CPA6	C	100.00	100.00		NM_020361.5
CPS1	C	99.98	100.00		NM_001875.5
CPT1A	C	100.00	100.00		NM_001876.4
CPT2	C	100.00	100.00		NM_000098.3
CSNK2B	C	100.00	100.00		NM_001320.7
CSTB	C	100.00	100.00		NM_000100.4
CTNND2	C	98.94	99.63		NM_001332.4
CTSD	C	100.00	100.00		NM_001909.5
CTSF	C	99.99	100.00		NM_003793.4
CUL4B	C	99.92	99.97		NM_001079872.2
CUX2	C	100.00	100.00		NM_015267.4
D2HGDH	C	100.00	100.00		NM_152783.5
DCX	C	100.00	100.00		NM_001195553.2
DDX3X	C	99.5	99.84		NM_001356.5
DENND5A	C	100.00	100.00		NM_015213.4
DEPDC5	C	100.00	100.00		NM_001242896.3
DHDDS	C	99.06	99.92		NM_205861.3
DLAT	C	99.96	100.00		NM_001931.5
DNAJC5	C	100.00	100.00		NM_025219.3
DNM1	C	89.63	91.66		NM_004408.4
DNM1L	C	99.96	100.00		NM_012062.5
DOCK7	C	99.83	99.99		NM_001367561.1
DPAGT1	C	100.00	100.00		NM_001382.4
DPM1	C	100.00	100.00		NM_003859.3
DPM2	C	100.00	100.00		NM_003863.4
DPYD	C	99.14	99.89		NM_000110.3
DPYS	C	100.00	100.00		NM_001385.3
DYNC1H1	C	100.00	100.00		NM_001376.5
DYRK1A	C	99.99	99.99		NM_001347721.2
EEF1A2	C	99.92	99.99		NM_001958.5
EFHC1	C	100.00	100.00		NM_018100.4
EGF	C	100.00	100.00		NM_001963.6
EHMT1	C	99.44	99.63		NM_024757.5
EPM2A	C	99.7	99.99		NM_005670.4
ETHE1	C	85.1	85.1		NM_014297.5
EXOSC3	C	100.00	100.00		NM_016042.4
FA2H	C	100.00	100.00		NM_024306.5
FARS2	C	100.00	100.00		NM_006567.5
FASN	C	99.97	100.00		NM_004104.5
FGD1	C	99.99	100.00		NM_004463.3
FGF12	C	100.00	100.00		NM_004113.6
FLNA	C	100.00	100.00		NM_001110556.2
FOLR1	C	100.00	100.00		NM_016729.3
FOXG1	C	93.75	97.53		NM_005249.5
FOXRED1	C	100.00	100.00		NM_017547.4
FRMPD4	C	100.00	100.00		NM_001368397.1
FRRS1L	C	100.00	100.00		NM_014334.4
FXYD2	C	100.00	100.00		NM_001680.5
GABBR2	C	98.84	99.4		NM_005458.8
GABRA1	C	100.00	100.00		NM_001127644.2
GABRA2	C	99.98	100.00		NM_000807.4
GABRA3	C	100.00	100.00		NM_000808.4
GABRB2	C	100.00	100.00		NM_001371727.1
GABRB3	C	100.00	100.00		NM_000814.6
GABRE	C	100.00	100.00		NM_004961.4
GABRG2	C	99.95	100.00		NM_198904.4
GAMT	C	100.00	100.00		NM_000156.6
GCK	C	100.00	100.00		NM_000162.5
GCSH	C	100.00	100.00		NM_004483.5
GLDC	C	100.00	100.00		NM_000170.3
GLRA1	C	100.00	100.00		NM_000171.4
GLRB	C	99.95	99.96		NM_000824.5
GLUD1	C	100.00	100.00		NM_005271.5
GNAO1	C	99.82	100.00		NM_020988.3
GNB1	C	100.00	100.00		NM_002074.5
GOSR2	C	100.00	100.00		NM_004287.5
GPC3	C	100.00	100.00		NM_004484.4
GPHN	C	99.99	100.00		NM_020806.5
GRIA2	C	100.00	100.00		NM_001083619.3
GRIA3	C	99.98	100.00		NM_007325.5
GRIK2	C	100.00	100.00		NM_021956.5
GRIN1	C	100.00	100.00		NM_007327.4
GRIN2A	C	100.00	100.00		NM_001134407.3
GRIN2B	C	100.00	100.00		NM_000834.5
GRIN2D	C	96.89	98.9		NM_000836.4
GRN	C	99.99	100.00		NM_002087.4
HACE1	C	100.00	100.00		NM_020771.4
HADH	C	100.00	100.00		NM_005327.7
HCFC1	C	100.00	100.00		NM_005334.3
HCN1	C	100.00	100.00		NM_021072.4
HCN2	C	87.5	90.11		NM_001194.4
HDAC4	C	100.00	100.00		NM_001378414.1
HLCS	C	99.99	100.00		NM_001352514.2
HNRNPU	C	100.00	100.00		NM_031844.3
HPRT1	C	99.86	99.98		NM_000194.3
HSD17B10	C	100.00	100.00		NM_004493.3
HSD17B4	C	99.99	100.00		NM_000414.4
HUWE1	C	99.97	100.00		NM_031407.7
IDH2	C	100.00	100.00		NM_002168.4
IER3IP1	C	100.00	100.00		NM_016097.5
IFIH1	C	100.00	100.00		NM_022168.4
INTS8	C	99.97	100.00		NM_017864.4
IQSEC2	C	99.63	99.94		NM_001111125.3
IRF2BPL	C	97.89	99.21		NM_024496.4
ITPA	C	100.00	100.00		NM_033453.4
JAM3	C	100.00	100.00		NM_032801.5
KANSL1	C	100.00	100.00		NM_015443.4
KATNB1	C	99.86	99.94		NM_005886.3
KCNA1	C	100.00	100.00		NM_000217.3
KCNA2	C	100.00	100.00		NM_004974.4
KCNB1	C	100.00	100.00		NM_004975.4
KCNC1	C	100.00	100.00		NM_001112741.2
KCND3	C	100.00	100.00		NM_001378969.1
KCNH1	C	99.96	100.00		NM_172362.3
KCNJ10	C	100.00	100.00		NM_002241.5
KCNJ11	C	100.00	100.00		NM_000525.4
KCNMA1	C	99.75	99.99		NM_001161352.2
KCNQ2	C	100.00	100.00		NM_172107.4
KCNQ3	C	99.92	100.00		NM_004519.4
KCNQ5	C	99.97	100.00		NM_019842.4
KCNT1	C	99.98	100.00		NM_020822.3
KCTD7	C	99.87	100.00		NM_153033.5
KDM5C	C	100.00	100.00		NM_004187.5
KMT2A	C	99.96	100.00		NM_001197104.2
KPNA7	C	99.95	100.00		NM_001145715.3
KPTN	C	100.00	100.00		NM_007059.4
LAMB1	C	100.00	100.00		NM_002291.3
LGI1	C	99.99	100.00		NM_005097.4
LIAS	C	100.00	100.00		NM_006859.4
MBD5	C	99.96	100.00		NM_001378120.1
MDH2	C	99.79	99.86		NM_005918.4
MECP2	C	99.58	99.98		NM_001110792.2
MED12	C	100.00	100.00		NM_005120.3
MEF2C	C	100.00	100.00		NM_002397.5
MFF	C	99.94	100.00		NM_001277062.2
MFSD8	C	100.00	100.00		NM_001371596.2
MLC1	C	100.00	100.00		NM_015166.4
MOCS1	C	100.00	100.00		NM_001358530.2
MOCS2	C	100.00	100.00		NM_004531.5
MPDU1	C	99.95	100.00		NM_004870.4
MPDZ	C	100.00	100.00		NM_001378778.1
MTHFR	C	100.00	100.00		NM_005957.5
MTOR	C	99.96	100.00		NM_004958.4
MTRR	C	100.00	100.00		NM_002454.3
NACC1	C	100.00	100.00		NM_052876.4
NALCN	C	100.00	100.00		NM_052867.4
NANS	C	100.00	100.00		NM_018946.4
NAPB	C	100.00	100.00		NM_022080.3
NBEA	C	99.99	100.00		NM_001385012.1
NDUFA1	C	99.8	99.87		NM_004541.4
NDUFA11	C	100.00	100.00		NM_175614.5
NDUFAF1	C	100.00	100.00		NM_016013.4
NDUFAF2	C	99.85	100.00		NM_174889.5
NDUFAF3	C	100.00	100.00		NM_199069.2
NDUFAF4	C	99.97	100.00		NM_014165.4
NDUFAF5	C	100.00	100.00		NM_024120.5
NDUFB3	C	100.00	100.00		NM_002491.3
NDUFB9	C	100.00	100.00		NM_005005.3
NDUFS1	C	100.00	100.00		NM_005006.7
NDUFS2	C	99.92	99.99		NM_001377299.1
NDUFS3	C	100.00	100.00		NM_004551.3
NDUFS4	C	100.00	100.00		NM_002495.4
NDUFS6	C	100.00	100.00		NM_004553.6
NDUFV1	C	100.00	100.00		NM_007103.4
NDUFV2	C	100.00	100.00		NM_021074.5
NECAP1	C	100.00	100.00		NM_015509.4
NEDD4L	C	100.00	100.00		NM_001144967.3
NEU1	C	100.00	100.00		NM_000434.4
NEXMIF	C	100.00	100.00		NM_001008537.3
NGLY1	C	100.00	100.00		NM_018297.4
NHLRC1	C	100.00	100.00		NM_198586.3
NPRL2	C	100.00	100.00		NM_006545.5
NPRL3	C	100.00	100.00		NM_001077350.3
NRXN1	C	100.00	100.00		NM_001330078.2
NSDHL	C	100.00	100.00		NM_015922.3
NUBPL	C	99.92	100.00		NM_025152.3
OCLN	C	83.59	88.19		NM_001205254.2
OFD1	C	99.98	100.00		NM_003611.3
OPHN1	C	99.95	100.00		NM_002547.3
PAFAH1B1	C	100.00	100.00		NM_000430.4
PAK3	C	92.16	92.16		NM_002578.5
PC	C	100.00	100.00		NM_001040716.2
PCDH19	C	99.99	100.00		NM_001184880.2
PDHA1	C	100.00	100.00		NM_000284.4
PDHB	C	100.00	100.00		NM_000925.4
PDP1	C	100.00	100.00		NM_018444.4
PDX1	C	100.00	100.00		NM_000209.4
PET100	C	100.00	100.00		NM_001171155.2
PEX1	C	99.92	99.99		NM_000466.3
PEX10	C	100.00	100.00		NM_002617.4
PEX12	C	100.00	100.00		NM_000286.3
PEX13	C	100.00	100.00		NM_002618.4
PEX14	C	99.94	99.99		NM_004565.3
PEX16	C	100.00	100.00		NM_004813.4
PEX19	C	99.87	100.00		NM_002857.4
PEX26	C	100.00	100.00		NM_001127649.3
PEX3	C	99.98	100.00		NM_003630.3
PEX5	C	100.00	100.00		NM_001351132.2
PEX6	C	100.00	100.00		NM_000287.4
PGAP1	C	99.92	100.00		NM_024989.4
PGAP3	C	99.96	100.00		NM_033419.5
PHF6	C	100.00	100.00		NM_001015877.2
PHGDH	C	99.94	99.99		NM_006623.4
PIGA	C	100.00	100.00		NM_002641.4
PIGH	C	100.00	100.00		NM_004569.5
PIGN	C	99.98	100.00		NM_176787.5
PIGO	C	100.00	100.00		NM_032634.4
PIGP	C	100.00	100.00		NM_153682.3
PIGT	C	99.99	100.00		NM_015937.6
PIGV	C	100.00	100.00		NM_017837.4
PLA2G6	C	99.99	100.00		NM_003560.4
PLCB1	C	100.00	100.00		NM_015192.4
PLP1	C	100.00	100.00		NM_000533.5
PLPBP	C	100.00	100.00		NM_007198.4
PMM2	C	100.00	100.00		NM_000303.3
PNKP	C	100.00	100.00		NM_007254.4
PNPO	C	100.00	100.00		NM_018129.4
POLG	C	100.00	100.00		NM_002693.3
PPP2R1A	C	100.00	100.00		NM_014225.6
PPP2R5D	C	100.00	100.00		NM_006245.4
PPP3CA	C	100.00	100.00		NM_000944.5
PPT1	C	98.74	99.94		NM_000310.4
PQBP1	C	100.00	100.00		NM_001032382.2
PRF1	C	100.00	100.00		NM_001083116.3
PRICKLE1	C	100.00	100.00		NM_153026.3
PRICKLE2	C	100.00	100.00		NM_198859.4
PRIMA1	C	100.00	100.00		NM_178013.4
PRPS1	C	100.00	100.00		NM_002764.4
PRRT2	C	100.00	100.00		NM_145239.3
PSAP	C	100.00	100.00		NM_002778.4
PSAT1	C	100.00	100.00		NM_058179.4
PSPH	C	100.00	100.00		NM_004577.4
PUM1	C	99.16	99.89		NM_001020658.2
PURA	C	100.00	100.00		NM_005859.5
PYCR2	C	99.93	100.00		NM_013328.4
QARS1	C	100.00	100.00		NM_005051.3
RAB39B	C	100.00	100.00		NM_171998.4
RAI1	C	99.22	99.6		NM_030665.4
RANBP2	C	100.00	100.00		NM_006267.5
RARS2	C	99.97	100.00		NM_020320.5
RELN	C	100.00	100.00		NM_005045.4
RNASEH2A	C	100.00	100.00		NM_006397.3
RNASEH2B	C	100.00	100.00		NM_024570.4
RNASEH2C	C	100.00	100.00		NM_032193.4
ROGDI	C	99.66	100.00		NM_024589.3
RPS6KA3	C	99.96	99.99		NM_004586.3
RRM2B	C	100.00	100.00		NM_001172477.1
SAMHD1	C	100.00	100.00		NM_015474.4
SATB2	C	100.00	100.00		NM_001172509.2
SCARB2	C	100.00	100.00		NM_005506.4
SCN1A	C	100.00	100.00		NM_001165963.4
SCN1B	C	98.88	99.94		NM_001037.5
SCN2A	C	100.00	100.00		NM_001040142.2
SCN3A	C	100.00	100.00		NM_006922.4
SCN8A	C	99.98	100.00		NM_001330260.2
SEPSECS	C	99.93	99.99		NM_016955.4
SERPINI1	C	99.96	100.00		NM_001122752.2
SHANK3	C	96.01	96.54		NM_001372044.2
SIK1	C	100.00	100.00		NM_173354.5
SLC12A5	C	100.00	100.00		NM_020708.5
SLC13A5	C	100.00	100.00		NM_177550.5
SLC16A1	C	99.9	100.00		NM_003051.4
SLC16A2	C	100.00	100.00		NM_006517.5
SLC19A3	C	100.00	100.00		NM_025243.4
SLC1A2	C	100.00	100.00		NM_004171.4
SLC1A3	C	100.00	100.00		NM_004172.5
SLC25A1	C	99.92	100.00		NM_005984.5
SLC25A15	C	100.00	100.00		NM_014252.4
SLC25A22	C	100.00	100.00		NM_001191061.2
SLC2A1	C	99.92	100.00		NM_006516.4
SLC35A2	C	100.00	100.00		NM_005660.3
SLC6A1	C	99.99	100.00		NM_003042.4
SLC6A5	C	100.00	100.00		NM_004211.5
SLC6A8	C	99.97	100.00		NM_005629.4
SLC9A6	C	99.79	99.89		NM_001379110.1
SMARCA2	C	99.85	99.97		NM_003070.5
SMC1A	C	99.99	100.00		NM_006306.3
SMPD4	C	99.71	99.91		NM_017951.5
SMS	C	99.61	99.95		NM_004595.5
SNAP25	C	100.00	100.00		NM_130811.4
SON	C	100.00	100.00		NM_138927.4
SPATA5	C	99.95	100.00		NM_145207.3
SPTAN1	C	100.00	100.00		NM_001130438.3
SRPX2	C	99.98	100.00		NM_014467.3
ST3GAL3	C	100.00	100.00		NM_006279.5
ST3GAL5	C	99.86	99.96		NM_003896.4
STX1B	C	99.96	100.00		NM_052874.5
STXBP1	C	100.00	100.00		NM_001032221.6
SUOX	C	100.00	100.00		NM_001032386.2
SYN1	C	99.98	100.00		NM_006950.3
SYNGAP1	C	100.00	100.00		NM_006772.3
SYNJ1	C	99.98	99.99		NM_203446.3
SYP	C	99.98	100.00		NM_003179.3
SZT2	C	99.89	99.99		NM_001365999.1
TANGO2	C	99.96	100.00		NM_152906.7
TBC1D23	C	99.96	100.00		NM_001199198.3
TBC1D24	C	100.00	100.00		NM_001199107.2
TBCD	C	100.00	100.00		NM_005993.5
TBCE	C	99.99	100.00		NM_003193.5
TBCK	C	99.99	100.00		NM_001163435.3
TCF4	C	99.86	100.00		NM_001083962.2
TDP2	C	100.00	100.00		NM_016614.3
TOE1	C	100.00	100.00		NM_025077.4
TPP1	C	100.00	100.00		NM_000391.4
TREX1	C	100.00	100.00		NM_033629.6
TRIO	C	99.55	99.74		NM_007118.4
TRPM6	C	100.00	100.00		NM_017662.5
TSC1	C	100.00	100.00		NM_000368.5
TSC2	C	99.98	99.99		NM_000548.5
TSEN15	C	99.86	99.94		NM_052965.4
TSEN2	C	100.00	100.00		NM_025265.4
TSEN54	C	99.66	99.92		NM_207346.3
TUBA1A	C	100.00	100.00		NM_006009.4
TUBB2A	C	82.37	85.91		NM_001069.3
TUBB2B	C	82.37	85.8		NM_178012.5
TUBB4A	C	100.00	100.00		NM_006087.4
TUBG1	C	100.00	100.00		NM_001070.5
UBA5	C	100.00	100.00		NM_024818.6
UBE2A	C	100.00	100.00		NM_003336.4
UBE3A	C	100.00	100.00		NM_130839.5
UBTF	C	100.00	100.00		NM_014233.4
UGDH	C	99.9	99.99		NM_003359.4
UGP2	C	100.00	100.00		NM_006759.4
VPS53	C	100.00	100.00		NM_001128159.3
WDR26	C	93.41	95.24		NM_001379403.1
WDR45	C	100.00	100.00		NM_001029896.2
WWOX	C	100.00	100.00		NM_016373.4
XK	C	100.00	100.00		NM_021083.4
YWHAG	C	100.00	100.00		NM_012479.4
ZDHHC9	C	100.00	100.00		NM_016032.4
ZEB2	C	100.00	100.00		NM_014795.4

Indicatie(s)
Epilepsie

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C