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