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NGS Intellectual disability

Panel naam NGS Intellectual disability
Panel methode WES-based NGS
Panel versie ** IDv14
Panel kwaliteit *** C
Core-NL Geen core-NL genen inbegrepen
CNV analyse Nee
Locatie Locatie AMC
Genen (1743) Kwaliteit % coverage >30 % coverage >20 Core-NL Notitie
A2ML1 C
AAAS C
AARS1 C
AASS C
ABAT C
ABCA2 C
ABCC8 C
ABCC9 C
ABCD1 C
ABCD4 C
ABHD16A C
ABHD5 C
ACAD9 C
ACADS C
ACADSB C
ACAT1 C
ACBD6 C
ACD C
ACER3 C
ACO2 C
ACOX1 C
ACSF3 C
ACSL4 C
ACTB C
ACTG1 C
ACTL6A C
ACTL6B C
ACVR1 C
ACY1 C
ADAM22 C
ADAR C
ADARB1 C
ADAT3 C
ADD3 C
ADGRG1 C
ADK C
ADNP C
ADPRS C
ADRA2B C
ADSL C
AFF2 C
AFF3 C
AFF4 C
AFG3L2 C
AGA C
AGAP1 C
AGMO C
AGO1 C
AGO2 C
AGPAT2 C
AGTPBP1 C
AGTR2 C
AHCY C
AHDC1 C
AHI1 C
AHSG C
AIFM1 C
AIMP1 C
AIMP2 C
AK1 C
AKT3 C
ALDH18A1 C
ALDH3A2 C
ALDH4A1 C
ALDH5A1 C
ALDH7A1 C
ALG1 C
ALG11 C
ALG12 C
ALG13 C
ALG14 C
ALG2 C
ALG3 C
ALG6 C
ALG8 C
ALG9 C
ALKBH8 C
ALMS1 C
ALX1 C
ALX3 C
ALX4 C
AMER1 C
AMMECR1 C
AMPD2 C
AMT C
ANK2 C
ANK3 C
ANKH C
ANKLE2 C
ANKRD11 C
ANKRD17 C
ANKS1B C
ANO10 C
ANTXR1 C
AP1G1 C
AP1S1 C
AP1S2 C
AP2M1 C
AP2S1 C
AP3B1 C
AP3B2 C
AP3D1 C
AP4B1 C
AP4E1 C
AP4M1 C
AP4S1 C
AP5Z1 C
APC2 C
APTX C
ARCN1 C
ARF1 C
ARF3 C
ARFGEF1 C
ARFGEF2 C
ARG1 C
ARHGAP31 C
ARHGAP35 C
ARHGEF6 C
ARHGEF9 C
ARID1A C
ARID1B C
ARID2 C
ARIH1 C
ARL13B C
ARL6 C
ARMC9 C
ARPC4 C
ARSA C
ARSL C
ARV1 C
ARX C
ASAH1 C
ASCC1 C
ASCL1 C
ASH1L C
ASL C
ASNS C
ASPA C
ASPM C
ASS1 C
ASXL1 C
ASXL2 C
ASXL3 C
ATAD1 C
ATAD3A C
ATCAY C
ATIC C
ATL1 C
ATN1 C
ATP13A2 C
ATP1A1 C
ATP1A2 C
ATP1A3 C
ATP2A2 C
ATP6AP1 C
ATP6AP2 C
ATP6V0A1 C
ATP6V0A2 C
ATP6V0C C
ATP6V1A C
ATP6V1B2 C
ATP7A C
ATP8A2 C
ATP9A C
ATPAF2 C
ATR C
ATRX C
ATXN2L C
AUH C
AUTS2 C
AVPR2 C
B3GALNT2 C
B3GALT6 C
B3GLCT C
B4GALNT1 C
B4GALT1 C
B4GALT7 C
B4GAT1 C
B9D1 C
B9D2 C
BAP1 C
BAZ2B C
BBS1 C
BBS10 C
BBS12 C
BBS2 C
BBS4 C
BBS5 C
BBS7 C
BBS9 C
BCAP31 C
BCAS3 C
BCKDHA C
BCKDHB C
BCKDK C
BCL11A C
BCL11B C
BCOR C
BCORL1 C
BCS1L C
BICRA C
BLM C
BLOC1S1 C
BLTP1 C
BOLA3 C
BPTF C
BRAF C
BRAT1 C
BRD4 C
BRF1 C
BRPF1 C
BRSK2 C
BRWD3 C
BSCL2 C
BSND C
BTD C
BUB1B C
C12orf4 C
C12orf57 C
C2CD3 C
CA2 C
CA5A C
CA8 C
CACNA1A C
CACNA1B C
CACNA1C C
CACNA1D C
CACNA1E C
CACNA1G C
CACNA1I C
CACNA2D1 C
CACNA2D2 C
CACNG2 C
CAD C
CAMK2A C
CAMK2B C
CAMK2G C
CAMK4 C
CAMTA1 C
CANT1 C
CAPN10 C
CAPN15 C
CARS1 C
CARS2 C
CASK C
CBL C
CBS C
CC2D1A C
CC2D2A C
CCBE1 C
CCDC115 C
CCDC174 C
CCDC186 C
CCDC22 C
CCDC32 C
CCDC47 C
CCDC78 C
CCDC88A C
CCDC88C C
CCND2 C
CCNK C
CDC42 C
CDC42BPB C
CDC6 C
CDH11 C
CDH15 C
CDH2 C
CDK10 C
CDK13 C
CDK16 C
CDK19 C
CDK5 C
CDK5RAP2 C
CDK8 C
CDKL5 C
CDKN1C C
CDON C
CELF2 C
CENPE C
CENPF C
CENPJ C
CEP104 C
CEP120 C
CEP135 C
CEP152 C
CEP290 C
CEP41 C
CEP55 C
CEP57 C
CEP63 C
CEP83 C
CEP85L C
CEP89 C
CERT1 C
CHAMP1 C
CHD1 C
CHD2 C
CHD3 C
CHD4 C
CHD5 C
CHD7 C
CHD8 C
CHKB C
CHMP1A C
CHP1 C
CHRM1 C
CHRNA4 C
CHUK C
CIC C
CIP2A C
CIT C
CKAP2L C
CLCN3 C
CLCN4 C
CLCNKB C
CLDN11 C
CLIC2 C
CLIP1 C
CLN3 C
CLN5 C
CLN6 C
CLN8 C
CLP1 C
CLPB C
CLTC C
CLTCL1 C
CNKSR2 C
CNNM2 C
CNOT1 C
CNOT2 C
CNOT3 C
CNPY3 C
CNTNAP1 C
CNTNAP2 C
COA8 C
COASY C
COG1 C
COG2 C
COG4 C
COG5 C
COG6 C
COG7 C
COG8 C
COL13A1 C
COL4A1 C
COL4A2 C
COLEC11 C
COPB1 C
COPB2 C
COQ2 C
COQ4 C
COQ8A C
COQ9 C
COX10 C
COX15 C
COX16 C
COX6B1 C
CPE C
CPLANE1 C
CPLX1 C
CPS1 C
CPSF3 C
CRADD C
CRB2 C
CRBN C
CREBBP C
CRLF1 C
CRPPA C
CRPPA C
CSDE1 C
CSF1R C
CSNK1G1 C
CSNK2A1 C
CSNK2B C
CSPP1 C
CSTB C
CTBP1 C
CTC1 C
CTCF C
CTDP1 C
CTNNA2 C
CTNNB1 C
CTNND1 C
CTNND2 C
CTSA C
CTSD C
CTTNBP2 C
CTU2 C
CUBN C
CUL3 C
CUL4B C
CUX1 C
CUX2 C
CWC27 C
CWF19L1 C
CYB5R3 C
CYFIP2 C
CYP27A1 C
CYP2U1 C
D2HGDH C
DAG1 C
DARS1 C
DARS2 C
DBT C
DCAF17 C
DCC C
DCHS1 C
DCPS C
DCX C
DDB1 C
DDC C
DDHD2 C
DDOST C
DDX11 C
DDX23 C
DDX3X C
DDX59 C
DDX6 C
DEAF1 C
DEGS1 C
DENND5A C
DEPDC5 C
DHCR24 C
DHCR7 C
DHDDS C
DHFR C
DHPS C
DHTKD1 C
DHX16 C
DHX30 C
DHX37 C
DIAPH1 C
DIP2B C
DIS3L2 C
DKC1 C
DLAT C
DLD C
DLG3 C
DLG4 C
DLL1 C
DMD C
DMPK C
DMRTA2 C
DMXL2 C
DNAJC12 C
DNAJC19 C
DNM1 C
DNM1L C
DNMT3A C
DNMT3B C
DOCK3 C
DOCK6 C
DOCK7 C
DOCK8 C
DOLK C
DONSON C
DPAGT1 C
DPF2 C
DPH1 C
DPM1 C
DPM2 C
DPP6 C
DPYD C
DPYS C
DPYSL5 C
DST C
DVL1 C
DYM C
DYNC1H1 C
DYNC1I2 C
DYRK1A C
EARS2 C
EBF3 C
EBP C
ECHS1 C
EDC3 C
EDEM3 C
EDNRA C
EED C
EEF1A2 C
EFNB2 C
EFTUD2 C
EHMT1 C
EIF2AK1 C
EIF2AK2 C
EIF2AK3 C
EIF2B4 C
EIF2B5 C
EIF2S3 C
EIF3F C
EIF4A3 C
EIF4G1 C
EIF5A C
ELAC2 C
ELOVL4 C
ELOVL5 C
ELP2 C
EMC1 C
EMC10 C
EML1 C
EMX2 C
ENTPD1 C
EP300 C
EPB41L1 C
EPG5 C
EPHA7 C
ERCC1 C
ERCC2 C
ERCC3 C
ERCC5 C
ERCC6 C
ERCC8 C
ERLIN2 C
ESCO2 C
ETFB C
ETHE1 C
EXOC2 C
EXOC6B C
EXOC7 C
EXOC8 C
EXOSC2 C
EXOSC3 C
EXOSC8 C
EXOSC9 C
EXT2 C
EXTL3 C
EZH2 C
EZR C
FA2H C
FAM149B1 C
FAM20C C
FAM50A C
FAR1 C
FARS2 C
FARSB C
FASN C
FAT4 C
FBN1 C
FBRSL1 C
FBXL3 C
FBXL4 C
FBXO11 C
FBXO31 C
FBXW11 C
FDFT1 C
FGD1 C
FGF12 C
FGF13 C
FGF14 C
FGFR1 C
FGFR2 C
FGFR3 C
FH C
FIBP C
FIG4 C
FIGN C
FKRP C
FKTN C
FLNA C
FLVCR1 C
FLVCR2 C
FMN2 C
FMR1 C
FOLR1 C
FOXG1 C
FOXJ1 C
FOXP1 C
FOXP2 C
FOXRED1 C
FRAS1 C
FREM2 C
FRMD4A C
FRMPD4 C
FRRS1L C
FTCD C
FTO C
FTSJ1 C
FUCA1 C
FUT8 C
FZR1 C
GABBR2 C
GABRA1 C
GABRA2 C
GABRA3 C
GABRA5 C
GABRB1 C
GABRB2 C
GABRB3 C
GABRD C
GABRG2 C
GAD1 C
GALC C
GALE C
GALNT2 C
GALT C
GAMT C
GATAD2B C
GATM C
GCDH C
GCH1 C
GCSH C
GDI1 C
GEMIN5 C
GFAP C
GFER C
GFM1 C
GFM2 C
GIGYF1 C
GJA1 C
GJB1 C
GJC2 C
GK C
GLB1 C
GLDC C
GLI2 C
GLI3 C
GLIS3 C
GLS C
GLUD1 C
GLUL C
GLYCTK C
GM2A C
GMNN C
GMPPA C
GMPPB C
GNAI1 C
GNAO1 C
GNAS C
GNB1 C
GNB5 C
GNPAT C
GNPTAB C
GNPTG C
GNS C
GOLGA2 C
GOT2 C
GPAA1 C
GPC3 C
GPC4 C
GPHN C
GPSM2 C
GPT2 C
GRIA2 C
GRIA3 C
GRIA4 C
GRID2 C
GRIK2 C
GRIN1 C
GRIN2A C
GRIN2B C
GRIN2D C
GRIN3B C
GRIP1 C
GRM1 C
GRM7 C
GRN C
GSE1 C
GSS C
GTF2E2 C
GTF2H5 C
GTPBP2 C
GTPBP3 C
GUSB C
H1-4 C
H4C3 C
HACE1 C
HADH C
HADHA C
HADHB C
HAX1 C
HCCS C
HCFC1 C
HCN1 C
HDAC4 C
HDAC6 C
HDAC8 C
HEATR5B C
HECTD1 C
HECW2 C
HEPACAM C
HERC1 C
HERC2 C
HESX1 C
HEXA C
HEXB C
HGSNAT C
HIBCH C
HID1 C
HIKESHI C
HIVEP2 C
HK1 C
HLCS C
HMGCL C
HNMT C
HNRNPD C
HNRNPH1 C
HNRNPH2 C
HNRNPK C
HNRNPU C
HOXA1 C
HPD C
HPDL C
HPRT1 C
HRAS C
HS2ST1 C
HSD17B10 C
HSD17B4 C
HSPA9 C
HSPD1 C
HTRA2 C
HUWE1 C
HYCC1 C
HYLS1 C
IARS1 C
IARS1 C
IARS2 C
IBA57 C
IDS C
IDUA C
IER3IP1 C
IFIH1 C
IFT122 C
IFT172 C
IFT27 C
IFT74 C
IFT81 C
IGBP1 C
IGF1 C
IGF1R C
IKBKG C
IL1RAPL1 C
IMPA1 C
INPP4A C
INPP5E C
INPP5K C
INTS1 C
IPO8 C
IQSEC1 C
IQSEC2 C
IREB2 C
IRF2BPL C
IRF6 C
IRX5 C
ISCA2 C
ITGA7 C
ITPA C
ITPR1 C
IVD C
JAG1 C
JAG2 C
JAM3 C
JARID2 C
JMJD1C C
KALRN C
KANK1 C
KANSL1 C
KAT5 C
KAT6A C
KAT6B C
KAT8 C
KATNB1 C
KCNA2 C
KCNA4 C
KCNB1 C
KCNC1 C
KCNC3 C
KCNH1 C
KCNJ10 C
KCNJ11 C
KCNJ6 C
KCNK4 C
KCNK9 C
KCNMA1 C
KCNN2 C
KCNN3 C
KCNQ2 C
KCNQ3 C
KCNQ5 C
KCNT1 C
KCNT2 C
KCTD3 C
KCTD7 C
KDM1A C
KDM2B C
KDM3B C
KDM4B C
KDM5B C
KDM5C C
KDM6A C
KDM6B C
KIAA0586 C
KIDINS220 C
KIF11 C
KIF14 C
KIF1A C
KIF21B C
KIF2A C
KIF3B C
KIF4A C
KIF5A C
KIF5C C
KIF7 C
KIFBP C
KIRREL3 C
KLF7 C
KLF8 C
KLHL15 C
KMT2A C
KMT2B C
KMT2C C
KMT2D C
KMT2E C
KMT5B C
KNL1 C
KPTN C
KRAS C
KRBOX4 C
L1CAM C
L2HGDH C
LAMA1 C
LAMA2 C
LAMB1 C
LAMB2 C
LAMC3 C
LAMP2 C
LARGE1 C
LARP7 C
LARS1 C
LAS1L C
LGI4 C
LIAS C
LIG4 C
LINGO1 C
LINS1 C
LMAN2L C
LMBRD2 C
LMNB1 C
LMNB2 C
LONP1 C
LRP2 C
LRPPRC C
LSS C
LYRM7 C
LYST C
LZTFL1 C
LZTR1 C
MAB21L1 C
MAB21L2 C
MACF1 C
MADD C
MAF C
MAG C
MAGEL2 C
MAGT1 C
MAN1B1 C
MAN2B1 C
MAN2C1 C
MANBA C
MAOA C
MAP1B C
MAP2K1 C
MAP2K2 C
MAPK1 C
MAPK8IP3 C
MAPKAPK5 C
MAPRE2 C
MARS2 C
MASP1 C
MAST1 C
MAT1A C
MBD5 C
MBOAT7 C
MBTPS2 C
MCCC1 C
MCCC2 C
MCOLN1 C
MCPH1 C
MDH2 C
MECP2 C
MECR C
MED12 C
MED12L C
MED13 C
MED13L C
MED17 C
MED23 C
MED25 C
MED27 C
MEF2C C
MEGF8 C
MEIS2 C
METTL23 C
METTL5 C
MFF C
MFSD2A C
MFSD8 C
MGAT2 C
MGP C
MIA3 C
MICU1 C
MID1 C
MID2 C
MINPP1 C
MKKS C
MKS1 C
MLC1 C
MLYCD C
MMAA C
MMAB C
MMACHC C
MMADHC C
MMGT1 C
MMUT C
MN1 C
MOCS1 C
MOCS2 C
MOGS C
MORC2 C
MPDU1 C
MPDZ C
MPLKIP C
MPV17 C
MRAS C
MRPL3 C
MRPS22 C
MRPS34 C
MSL2 C
MSL3 C
MSMO1 C
MTFMT C
MTHFR C
MTHFS C
MTM1 C
MTO1 C
MTOR C
MTR C
MTRFR C