Rare epilepsy with developmental delay (> 240 genes) - UZA

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Full name:
Rare epilepsy with developmental delay (> 240 genes) - UZA
Version number:
V1
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Created:
11 Aug 2020 - 12:05
Changed:
28 Sep 2022 - 15:31
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
ACD 99.86 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
AFG2A 100.00 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
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
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