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Non-specific early-onset epileptic encephalopathy

Disease Export to PDF
Name:
Non-specific early-onset epileptic encephalopathy
Description:
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
ORPHAcode:
442835
Synonyms:
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
XREF(s):
Orphanet
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Analyte(s):
ACTL6B
GABRG2
GABRA2
FZR1
GABRA5
PACS2
YWHAG
UBA5
GRIN2D
DALRD3
TRAK1
SLC1A2
AP3B2
ATP6V1A
SCN3A
GABRB2
CLTC
NUS1
CYFIP2
FBXO28
NTRK2
SLC38A3
FGF12
SZT2
FGF13
CELF2
DHDDS
PPP3CA
SYNJ1
SYNGAP1
WWOX
AARS1
SCN8A
NECAP1
HCN1
SLC13A5
KCNB1
DNM1
KCNA2
KCNA2
EEF1A2
CNKSR2
PARS2
ATP1A2
ATP1A3
GABBR2
CACNA1B
CDK19
CACNA1A
CACNA2D1
ARV1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Congenital disorders of glycosylation (79 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95%
    ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95%
    ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95%
    ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95%
    ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95%
    ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95%
    ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95%
    ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95%
    ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95%
    ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95%
    ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95%
    ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95%
    ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95%
    ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95%
    ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95%
    B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95%
    B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95%
    COG1 95.00 0 NM_018714.2/ interpretable range CS1>95%
    COG2 95.00 0 NM_007357.2/ interpretable range CS1>95%
    COG3 95.00 0 NM_031431.3/ interpretable range CS1>95%
    COG4 95.00 0 NM_015386.2/ interpretable range CS1>95%
    COG5 95.00 0 NM_006348.3/ interpretable range CS1>95%
    COG6 95.00 0 NM_020751.2/ interpretable range CS1>95%
    COG7 95.00 0 NM_153603.3/ interpretable range CS1>95%
    COG8 95.00 0 NM_032382.4/ interpretable range CS1>95%
    DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95%
    DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95%
    DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95%
    DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95%
    DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95%
    DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95%
    DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95%
    DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95%
    FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95%
    FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95%
    FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95%
    GALE 95.00 0 NM_000403.3/ interpretable range CS1>95%
    GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95%
    GALT 95.00 0 NM_000155.3/ interpretable range CS1>95%
    GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95%
    GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95%
    GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95%
    MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95%
    MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95%
    MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95%
    MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95%
    MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95%
    MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95%
    MPI 95.00 0 NM_002435.2/ interpretable range CS1>95%
    OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95%
    PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95%
    PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95%
    PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95%
    PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95%
    PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95%
    PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95%
    PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95%
    POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95%
    POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95%
    POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95%
    RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95%
    RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95%
    RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95%
    SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95%
    SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95%
    SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95%
    SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95%
    SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95%
    SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95%
    ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95%
    ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95%
    STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95%
    STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95%
    TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95%
    TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95%
  • Epilepsy, seizures (196 genes) - IPG
    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
  • Rare epilepsy with developmental delay (> 240 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment