Epilepsy, seizures (196 genes) - IPG

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Full name:
Epilepsy, seizures (196 genes) - IPG
Version number:
Version 3
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Created:
04 Jul 2019 - 09:32
Changed:
15 Sep 2023 - 09:45
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
AARS1 100.00 1 NM_001605.3
ACTB 100.00 1 NM_001101.5
ADSL 100.00 1 NM_000026.4
AKT3 100.00 1 NM_005465.7
ALDH7A1 100.00 1 NM_001182.5
ALG13 98.77 1 NM_001099922.3
ANKRD11 99.99 1 NM_013275.6
ARHGEF9 100.00 1 NM_001353921.2
ARID1B 98.38 1 NM_001374828.1
ARX 96.96 1 NM_139058.3
ASXL3 100.00 1 NM_030632.3
ATN1 100.00 1 NM_001940.4
ATP1A2 100.00 1 NM_000702.4
ATP1A3 100.00 1 NM_152296.5
ATP7A 100.00 1 NM_000052.7
ATRX 100.00 1 NM_000489.5
ATXN2 100.00 1 NM_001372574.1
BRAT1 100.00 1 NM_152743.4
BTD 100.00 1 NM_001370658.1
CACNA1A 100.00 1 NM_023035.3
CACNA1D 100.00 1 NM_001128840.3
CACNA1E 100.00 1 NM_001205293.3
CACNA2D2 100.00 1 NM_001174051.3
CAD 100.00 1 NM_004341.5
CAMK2A 100.00 1 NM_015981.4
CAMK2B 100.00 1 NM_001220.5
CASK 100.00 1 NM_003688.3
CDKL5 100.00 1 NM_001323289.2
CERT1 100.00 1 NM_001130105.1
CHD2 100.00 1 NM_001271.4
CHRNA2 100.00 1 NM_000742.4
CHRNA4 100.00 1 NM_000744.6
CHRNB2 100.00 1 NM_000748.3
CLN3 100.00 1 NM_001042432.2
CLN5 100.00 1 NM_006493.4
CLN6 100.00 1 NM_017882.3
CLTC 100.00 1 NM_004859.4
CNTNAP2 100.00 1 NM_014141.6
COL4A1 100.00 1 NM_001845.6
CSNK2B 100.00 1 NM_001320.7
CSTB 100.00 1 NM_000100.4
CTSA 100.00 1 NM_000308.4
CTSD 100.00 1 NM_001909.5
CTSF 100.00 1 NM_003793.4
CUL4B 100.00 1 NM_001079872.2
CYFIP2 100.00 1 NM_001037333.3
DCX 100.00 1 NM_001195553.2
DDC 100.00 1 NM_001082971.2
DDX3X 100.00 1 NM_001356.4
DEAF1 100.00 1 NM_021008.4
DEPDC5 100.00 1 NM_001242896.3
DHDDS 100.00 1 NM_205861.3
DNAJC5 100.00 1 NM_025219.3
DNM1 100.00 1 NM_004408.4
DOCK7 100.00 1 NM_001367561.1
DYNC1H1 100.00 1 NM_001376.5
DYRK1A 100.00 1 NM_001347721.2
EEF1A2 100.00 1 NM_001958.5
EHMT1 100.00 1 NM_024757.5
EPM2A 100.00 1 NM_005670.4
FGF12 100.00 1 NM_021032.4
FLNA 100.00 1 NM_001110556.2
FMR1 100.00 1 NM_002024.6
FOLR1 100.00 1 NM_016729.3
FOXG1 99.86 1 NM_005249.5
FOXP1 100.00 1 NM_032682.6
GABBR2 100.00 1 NM_005458.8
GABRA1 100.00 1 NM_001127644.2
GABRA2 100.00 1 NM_001330690.1
GABRA3 100.00 1 NM_000808.4
GABRA5 100.00 1 NM_000810.4
GABRB1 100.00 1 NM_000812.4
GABRB2 100.00 1 NM_001371727.1
GABRB3 100.00 1 NM_000814.6
GABRD 100.00 1 NM_000815.5
GABRG2 92.05 1 NM_198903.2
GAD1 100.00 1 NM_000817.3
GAD2 100.00 1 NM_001134366.2
GAMT 100.00 1 NM_000156.6
GATM 100.00 1 NM_001482.3
GBA1 98.97 1 NM_000157.4
GLDC 100.00 1 NM_000170.3
GLI3 100.00 1 NM_000168.6
GNAO1 100.00 1 NM_020988.3
GNB1 100.00 1 NM_002074.5
GOSR2 100.00 1 NM_004287.5
GPAA1 100.00 1 NM_003801.4
GRIA3 100.00 1 NM_007325.5
GRIN1 100.00 1 NM_007327.4
GRIN2A 100.00 1 NM_001134407.3
GRIN2B 100.00 1 XM_011520629.2
GRIN2D 100.00 1 NM_000836.2
H3-3A 100.00 1 NM_002107.7
H3-3B 100.00 1 NM_005324.5
HECW2 100.00 1 NM_001348768.2
HIVEP2 100.00 1 NM_006734.4
HLCS 100.00 1 NM_000411.8
HNRNPU 100.00 1 NM_031844.3
HUWE1 100.00 1 NM_031407.7
IQSEC2 99.37 1 NM_001111125.3
JMJD1C 100.00 1 NM_032776.3
KANSL1 100.00 1 NM_001193466.2
KCNA1 100.00 1 NM_000217.3
KCNA2 100.00 1 NM_004974.4
KCNB1 100.00 1 NM_004975.4
KCNC1 100.00 1 NM_001112741.2
KCNH1 100.00 1 NM_172362.3
KCNJ10 100.00 1 NM_002241.5
KCNK4 100.00 1 NM_033310.3
KCNQ2 100.00 1 NM_172107.4
KCNQ3 100.00 1 NM_004519.4
KCNT1 100.00 1 NM_020822.3
KCNT2 100.00 1 NM_198503.5
KCTD7 100.00 1 NM_153033.4
KDM5C 100.00 1 NM_004187.5
KDM6A 100.00 1 NM_001291415.2
KIF1A 100.00 1 NM_001244008.1
KMT2D 100.00 1 NM_003482.3
KMT2E 100.00 1 NM_182931.3
KPTN 100.00 1 NM_007059.4
LGI1 100.00 1 NM_005097.4
LRP1 100.00 1 NM_002332.3
MAGI2 100.00 1 NM_012301.4
MBD5 100.00 1 NM_018328.4
MECP2 100.00 1 NM_001110792.2+NM_004992.3
MED12 100.00 1 NM_005120.3
MED13L 100.00 1 NM_015335.4
MEF2C 100.00 1 NM_002397.5
MFSD8 100.00 1 NM_001371596.2
MICAL1 100.00 1 NM_022765.4
MID1 100.00 1 NM_000381.4
MOCS1 100.00 1 NM_001358530.2
MTHFR 100.00 1 NM_005957.5
MTOR 100.00 1 NM_004958.4
NEDD4L 100.00 1 NM_001144967.3
NEU1 100.00 1 NM_000434.4
NEXMIF 100.00 1 NM_001008537.3
NF1 100.00 1 NM_001042492.3
NFIA 99.78 1 NM_001134673.4
NHLRC1 100.00 1 NM_198586.3
NLGN3 100.00 1 NM_181303.2
NPRL2 100.00 1 NM_006545.5
NPRL3 100.00 1 NM_001077350.3
NRXN1 100.00 1 NM_001330078.2
NTRK2 100.00 1 XM_017014751.2
NUS1 100.00 1 NM_138459.5
OPHN1 100.00 1 NM_002547.3
PACS1 100.00 1 NM_018026.4
PACS2 100.00 1 NM_001100913.3
PAFAH1B1 100.00 1 NM_000430.4
PANK2 100.00 1 NM_153638.3
PCDH19 100.00 1 NM_001184880.2
PHGDH 100.00 1 NM_006623.4
PIGA 100.00 1 NM_002641.3
PIGO 100.00 1 NM_032634.4
PIGQ 100.00 1 NM_004204.5
PIGS 100.00 1 NM_033198.4
PIGT 100.00 1 NM_015937.6
PIGU 100.00 1 NM_080476.4
PIGV 100.00 1 NM_017837.4
PIK3CA 100.00 1 NM_006218.4
PIK3R2 100.00 1 NM_005027.4
PLCB1 100.00 1 NM_015192.4
PLPBP 100.00 1 NM_007198.4
PLXNA1 100.00 1 NM_032242.3
PNKP 100.00 1 NM_007254.4
PNPO 100.00 1 NM_018129.4
POLG 100.00 1 NM_001126131.2
PPP2R1A 100.00 1 NM_014225.6
PPP2R5D 100.00 1 NM_006245.4
PPT1 100.00 1 NM_000310.4
PRICKLE1 100.00 1 NM_153026.3
PRIMA1 100.00 1 NM_178013.4
PRRT2 100.00 1 NM_145239.3
PSAT1 100.00 1 NM_058179.4
PTEN 100.00 1 NM_000314.8
PURA 100.00 1 NM_005859.5
QARS1 100.00 1 NM_005051.3
RELN 100.00 1 NM_005045.4
RLIM 100.00 1 NM_016120.4
SCAF4 100.00 1 NM_020706.2
SCARB2 100.00 1 NM_005506.4
SCN1A 100.00 1 NM_001165963.3
SCN1B 100.00 1 NM_001037.5+NM_199037.5
SCN2A 100.00 1 NM_001040142.2
SCN3A 100.00 1 NM_006922.4
SCN8A 100.00 1 NM_001330260.2
SCN9A 100.00 1 NM_001365536.1
SERPINI1 100.00 1 NM_001122752.1
SETBP1 99.99 1 NM_015559.3
SETD5 100.00 1 NM_001080517.3
SLC12A5 100.00 1 NM_020708.5
SLC19A3 100.00 1 NM_025243.4
SLC1A2 100.00 1 NM_004171.4
SLC25A22 100.00 1 NM_001191061.2
SLC2A1 100.00 1 NM_006516.3
SLC35A2 100.00 1 NM_005660.3
SLC6A1 100.00 1 NM_003042.4
SLC6A11 100.00 1 NM_014229.3
SLC6A8 100.00 1 NM_005629.4
SLC9A6 100.00 1 NM_001042537.1
SMARCA2 100.00 1 NM_003070.5
SMC1A 100.00 1 NM_006306.4
SMS 100.00 1 NM_004595.5
SNAP25 100.00 1 NM_130811.4
SPTAN1 100.00 1 NM_001130438.3
ST3GAL3 100.00 1 NM_006279.5
STX1B 100.00 1 NM_052874.5
STXBP1 100.00 1 NM_001032221.6
SYN1 100.00 1 NM_006950.3
SYNGAP1 100.00 1 NM_006772.3
SZT2 100.00 1 NM_001365999.1
TBC1D24 100.00 1 NM_001199107.2
TBL1XR1 100.00 1 NM_024665.7
TCF4 100.00 1 NM_001083962.2
TNK2 100.00 1 XM_005269270.3
TPP1 100.00 1 NM_000391.4
TRPM6 100.00 1 NM_017662.5
TRRAP 100.00 1 NM_001244580.1
TSC1 100.00 1 NM_000368.5
TSC2 100.00 1 NM_000548.5
TUBA1A 100.00 1 NM_006009.4
TWNK 100.00 1 NM_021830.5
UBE3A 100.00 1 NM_130839.5
UGP2 100.00 1 NM_006759.3
WASF1 100.00 1 NM_003931.3
WDR45 100.00 1 NM_001029896.2
WWOX 100.00 1 NM_016373.4
ZEB2 100.00 1 NM_014795.4