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NGS Intellectual disability

Panel name NGS Intellectual disability
Panel method WES-based NGS
Panel version ** IDv14
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
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Genes (1537) Quality % coverage >30 % coverage >20 Core-NL Note
A2ML1
AAAS
AARS1
AASS
ABAT
ABCA2
ABCC8
ABCC9
ABCD1
ABCD4
ABHD5
ACAD9
ACADS
ACAT1
ACBD6
ACD
ACO2
ACOX1
ACSF3
ACSL4
ACTB
ACTG1
ACTL6A
ACTL6B
ACVR1
ACY1
ADAM22
ADAR
ADARB1
ADAT3
ADGRG1
ADK
ADNP
ADPRS
ADRA2B
ADSL
AFF2
AFF4
AFG3L2
AGA
AGMO
AGO2
AGPAT2
AGTPBP1
AGTR2
AHCY
AHDC1
AHI1
AHSG
AIFM1
AIMP1
AIMP2
AK1
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ALKBH8
ALMS1
ALX1
ALX3
ALX4
AMER1
AMMECR1
AMPD2
AMT
ANK3
ANKH
ANKLE2
ANKRD11
ANKS1B
ANO10
ANTXR1
AP1G1
AP1S1
AP1S2
AP2M1
AP3B1
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APC2
APTX
ARCN1
ARF1
ARFGEF2
ARG1
ARHGAP31
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARID2
ARIH1
ARL13B
ARL6
ARMC9
ARSA
ARSL
ARV1
ARX
ASAH1
ASCC1
ASCL1
ASH1L
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL2
ASXL3
ATAD1
ATAD3A
ATCAY
ATIC
ATL1
ATN1
ATP1A1
ATP1A2
ATP1A3
ATP2A2
ATP6AP2
ATP6V0A2
ATP6V1A
ATP6V1B2
ATP7A
ATP8A2
ATPAF2
ATR
ATRX
AUH
AUTS2
AVPR2
B3GALNT2
B3GALT6
B3GLCT
B4GALNT1
B4GALT1
B4GALT7
B4GAT1
BAZ2B
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCKDHA
BCKDHB
BCKDK
BCL11A
BCL11B
BCOR
BCORL1
BCS1L
BLM
BLTP1
BOLA3
BPTF
BRAF
BRAT1
BRD4
BRF1
BRPF1
BRSK2
BRWD3
BSCL2
BSND
BTD
BUB1B
C12orf4
C12orf57
C2CD3
CA2
CA5A
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1E
CACNA1G
CACNA1I
CACNA2D1
CACNA2D2
CACNG2
CAD
CAMK2A
CAMK2B
CAMK2G
CAMTA1
CANT1
CAPN10
CARS2
CASK
CBL
CBS
CC2D1A
CC2D2A
CCBE1
CCDC115
CCDC174
CCDC22
CCDC32
CCDC47
CCDC78
CCDC88A
CCDC88C
CCND2
CCNK
CDC42
CDC42BPB
CDC6
CDH11
CDH15
CDK10
CDK13
CDK16
CDK19
CDK5
CDK5RAP2
CDK8
CDKL5
CDKN1C
CDON
CENPE
CENPF
CENPJ
CEP104
CEP120
CEP135
CEP152
CEP290
CEP41
CEP55
CEP57
CEP83
CEP89
CERT1
CHAMP1
CHD1
CHD2
CHD3
CHD4
CHD5
CHD7
CHD8
CHKB
CHMP1A
CHP1
CHRNA4
CHUK
CIC
CIP2A
CIT
CKAP2L
CLCN4
CLCNKB
CLIC2
CLIP1
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLTC
CLTCL1
CNKSR2
CNNM2
CNOT1
CNOT2
CNOT3
CNPY3
CNTNAP2
COA8
COASY
COG1
COG2
COG4
COG5
COG6
COG7
COG8
COL13A1
COL4A1
COL4A2
COLEC11
COQ2
COQ4
COQ8A
COQ9
COX10
COX15
COX6B1
CPE
CPLANE1
CPLX1
CPS1
CRADD
CRB2
CRBN
CREBBP
CRLF1
CRPPA
CRPPA
CSDE1
CSF1R
CSNK2A1
CSNK2B
CSPP1
CSTB
CTBP1
CTC1
CTCF
CTDP1
CTNNA2
CTNNB1
CTNND1
CTNND2
CTSA
CTSD
CTTNBP2
CTU2
CUBN
CUL4B
CUX1
CUX2
CWC27
CWF19L1
CYB5R3
CYFIP2
CYP27A1
CYP2U1
D2HGDH
DAG1
DARS1
DARS2
DBT
DCAF17
DCC
DCHS1
DCPS
DCX
DDC
DDHD2
DDOST
DDX11
DDX23
DDX3X
DDX59
DDX6
DEAF1
DEGS1
DENND5A
DEPDC5
DHCR24
DHCR7
DHDDS
DHFR
DHPS
DHTKD1
DHX30
DIAPH1
DIP2B
DIS3L2
DKC1
DLD
DLG3
DLG4
DMD
DMPK
DMRTA2
DMXL2
DNAJC12
DNAJC19
DNM1
DNM1L
DNMT3A
DNMT3B
DOCK3
DOCK6
DOCK7
DOCK8
DOLK
DONSON
DPAGT1
DPF2
DPH1
DPM1
DPP6
DPYD
DPYS
DPYSL5
DST
DVL1
DYM
DYNC1H1
DYNC1I2
DYRK1A
EBF3
EBP
ECHS1
EDC3
EDNRA
EED
EEF1A2
EFNB2
EFTUD2
EHMT1
EIF2AK1
EIF2AK2
EIF2AK3
EIF2B4
EIF2B5
EIF2S3
EIF3F
EIF4A3
EIF4G1
ELAC2
ELOVL4
ELOVL5
ELP2
EMC1
EML1
EMX2
ENTPD1
EP300
EPB41L1
EPG5
ERCC1
ERCC2
ERCC3
ERCC5
ERCC6
ERCC8
ERLIN2
ESCO2
ETFB
ETHE1
EXOC6B
EXOC8
EXOSC2
EXOSC3
EXOSC8
EXOSC9
EXT2
EXTL3
EZH2
EZR
FA2H
FAM149B1
FAM20C
FAR1
FARS2
FARSB
FASN
FAT4
FBN1
FBXL3
FBXL4
FBXO11
FBXO31
FDFT1
FGD1
FGF12
FGF14
FGFR1
FGFR2
FGFR3
FH
FIBP
FIGN
FKRP
FKTN
FLNA
FLVCR1
FLVCR2
FMN2
FMR1
FOLR1
FOXG1
FOXJ1
FOXP1
FOXP2
FOXRED1
FRAS1
FREM2
FRMD4A
FRMPD4
FRRS1L
FTCD
FTO
FTSJ1
FUCA1
FUT8
GABBR2
GABRA1
GABRA2
GABRA3
GABRA5
GABRB1
GABRB2
GABRB3
GABRD
GABRG2
GAD1
GALC
GALE
GALNT2
GALT
GAMT
GATAD2B
GATM
GCDH
GCH1
GCSH
GDI1
GFAP
GFER
GFM1
GFM2
GJA1
GJB1
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLIS3
GLUD1
GLYCTK
GM2A
GMPPA
GMPPB
GNAI1
GNAO1
GNAS
GNB1
GNB5
GNPAT
GNPTAB
GNPTG
GNS
GOT2
GPAA1
GPC3
GPC4
GPHN
GPSM2
GPT2
GRIA3
GRIA4
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRIN3B
GRIP1
GRM1
GRN
GSE1
GSS
GTF2H5
GTPBP2
GTPBP3
GUSB
H1-4
H4C3
HACE1
HADH
HADHA
HAX1
HCCS
HCFC1
HCN1
HDAC4
HDAC6
HDAC8
HECTD1
HECW2
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HIKESHI
HIVEP2
HK1
HLCS
HMGCL
HNMT
HNRNPH1
HNRNPH2
HNRNPK
HNRNPU
HOXA1
HPD
HPRT1
HRAS
HSD17B10
HSD17B4
HSPA9
HSPD1
HTRA2
HUWE1
HYCC1
HYLS1
IARS1
IARS1
IARS2
IBA57
IDS
IDUA
IER3IP1
IFIH1
IFT122
IFT172
IFT81
IGBP1
IGF1
IGF1R
IKBKG
IL1RAPL1
IMPA1
INPP4A
INPP5E
INPP5K
INTS1
IQSEC1
IQSEC2
IRF2BPL
IRF6
ISCA2
ITGA7
ITPA
ITPR1
IVD
JAG1
JAM3
JMJD1C
KALRN
KANK1
KANSL1
KAT6A
KAT6B
KAT8
KATNB1
KCNA2
KCNA4
KCNB1
KCNC1
KCNC3
KCNH1
KCNJ10
KCNJ11
KCNJ6
KCNK4
KCNK9
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KDM1A
KDM2B
KDM3B
KDM4B
KDM5B
KDM5C
KDM6A
KDM6B
KIAA0586
KIDINS220
KIF11
KIF14
KIF1A
KIF2A
KIF3B
KIF4A
KIF5A
KIF5C
KIF7
KIFBP
KIRREL3
KLF7
KLF8
KLHL15
KMT2A
KMT2B
KMT2C
KMT2D
KMT2E
KMT5B
KNL1
KPTN
KRAS
KRBOX4
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LAMC3
LAMP2
LARGE1
LARP7
LAS1L
LGI4
LIAS
LIG4
LINGO1
LINS1
LMAN2L
LMNB2
LONP1
LRP2
LRPPRC
LYST
LZTFL1
LZTR1
MAB21L1
MAB21L2
MACF1
MAF
MAG
MAGEL2
MAGT1
MAN1B1
MAN2B1
MANBA
MAOA
MAP1B
MAP2K1
MAP2K2
MAPK8IP3
MAPRE2
MARS2
MASP1
MAST1
MAT1A
MBD5
MBOAT7
MBTPS2
MCCC1
MCCC2
MCOLN1
MCPH1
MDH2
MECP2
MECR
MED12
MED13
MED13L
MED17
MED23
MED25
MEF2C
MEGF8
MEIS2
METTL23
METTL5
MFF
MFSD2A
MFSD8
MGAT2
MGP
MICU1
MID1
MID2
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMUT
MN1
MOCS1
MOCS2
MOGS
MPDU1
MPDZ
MPLKIP
MRAS
MRPL3
MRPS22
MSL3
MSMO1
MTFMT
MTHFR
MTM1
MTO1
MTOR
MTR
MTRFR
MTRR
MVK
MYCN
MYH10
MYH9
MYO5A
MYO9A
MYT1L
NAA10
NAA15
NACC1
NADK2
NAGA
NAGLU
NALCN
NANS
NAPB
NARS2
NAXE
NBEA
NBN
NCAPG2
NDE1
NDP
NDST1
NDUFA1
NDUFA11
NDUFA12
NDUFA13
NDUFA2
NDUFAF3
NDUFAF5
NDUFAF8
NDUFB11
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEB
NECAP1
NECTIN1
NEDD4L
NEU1
NEXMIF
NF1
NFATC1
NFIA
NFIB
NFIX
NFU1
NGLY1
NHS
NIPBL
NKAP
NKX2-1
NLGN2
NLGN3
NLGN4X
NLRP3
NONO
NOS1
NOTCH1
NOVA2
NPC1
NPC2
NPHP1
NR2F1
NR4A2
NRAS
NRROS
NRXN1
NSD1
NSD2
NSDHL
NSUN2
NT5C2
NTNG2
NTRK1
NTRK2
NUBPL
NUP37
NUP62
NUS1
NXF5
OAT
OCLN
OCRL
ODC1
OFD1
OGT
OPA3
OPHN1
ORC1
ORC6
OSGEP
OTC
OTUD6B
OTX2
OXR1
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1