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NGS Preconceptiepanel (tbv consanguine paren)

Panel naam NGS Preconceptiepanel (tbv consanguine paren)
Panel methode WES-based NGS
Panel versie ** AUMC_PCO_consanguin_v1.2
Panel kwaliteit *** C
Core-NL Geen core-NL genen inbegrepen
CNV analyse Nee
Notitie Coverage details volgen
Locatie Locatie AMC
Genen (2360) Kwaliteit % coverage >30 % coverage >20 Core-NL Notitie
AAAS C
AARS1 C
AARS2 C
AASS C
ABAT C
ABCA1 C
ABCA3 C
ABCA4 C
ABCB11 C
ABCB4 C
ABCC2 C
ABCC6 C
ABCC8 C
ABCD3 C
ABCD4 C
ABCG5 C
ABCG8 C
ABHD12 C
ABHD5 C
ACACA C
ACAD8 C
ACAD9 C
ACADM C
ACADS C
ACADSB C
ACADVL C
ACAN C
ACAT1 C
ACD C
ACE C
ACER3 C
ACO2 C
ACOX1 C
ACOX2 C
ACP5 C
ACSF3 C
ACTA1 C
ACTL6B C
ACY1 C
ADA C
ADA2 C
ADAM17 C
ADAM22 C
ADAM9 C
ADAMTS10 C
ADAMTS13 C
ADAMTS17 C
ADAMTS18 C
ADAMTS2 C
ADAMTS3 C
ADAMTSL2 C
ADAMTSL4 C
ADAR C
ADARB1 C
ADAT3 C
ADCY1 C
ADCY6 C
ADD3 C
ADGRG1 C
ADGRG6 C
ADGRV1 C
ADK C
ADPRS C
ADSL C
ADSS1 C
AEBP1 C
AFG3L2 C
AGA C
AGBL5 C
AGK C
AGL C
AGPAT2 C
AGPS C
AGRN C
AGT C
AGTPBP1 C
AGTR1 C
AGXT C
AHCY C
AHI1 C
AHR C
AHSG C
AICDA C
AIMP1 C
AIMP2 C
AIPL1 C
AIRE C
AK1 C
AK2 C
AKR1D1 C
ALAD C
ALB C
ALDH18A1 C
ALDH1A3 C
ALDH3A2 C
ALDH4A1 C
ALDH5A1 C
ALDH6A1 C
ALDH7A1 C
ALDOA C
ALDOB C
ALG1 C
ALG11 C
ALG12 C
ALG14 C
ALG2 C
ALG3 C
ALG6 C
ALG8 C
ALG9 C
ALKBH8 C
ALMS1 C
ALOX12B C
ALOXE3 C
ALPK3 C
ALPL C
ALS2 C
ALX1 C
ALX3 C
ALX4 C
AMACR C
AMBN C
AMN C
AMPD1 C
AMPD2 C
AMT C
ANAPC1 C
ANGPTL3 C
ANK1 C
ANK3 C
ANKH C
ANKLE2 C
ANKS6 C
ANO10 C
ANO5 C
ANO6 C
ANTXR1 C
ANTXR2 C
AP1B1 C
AP1S1 C
AP3B1 C
AP3B2 C
AP3D1 C
AP4B1 C
AP4E1 C
AP4M1 C
AP4S1 C
AP5Z1 C
APC2 C
APOC2 C
APOE C
APRT C
APTX C
AQP2 C
ARFGEF2 C
ARG1 C
ARHGDIA C
ARHGEF18 C
ARHGEF2 C
ARL13B C
ARL2BP C
ARL3 C
ARL6 C
ARL6IP1 C
ARMC9 C
ARNT2 C
ARPC1B C
ARSA C
ARSB C
ARSG C
ARV1 C
ASAH1 C
ASCC1 C
ASL C
ASNS C
ASPA C
ASPH C
ASPM C
ASS1 C
ATAD1 C
ATAD3A C
ATCAY C
ATF6 C
ATG5 C
ATIC C
ATM C
ATOH7 C
ATP13A2 C
ATP2A1 C
ATP5F1A C
ATP5F1D C
ATP5F1E C
ATP6V0A2 C
ATP6V0A4 C
ATP6V1A C
ATP6V1B1 C
ATP6V1E1 C
ATP7B C
ATP8A2 C
ATP8B1 C
ATPAF2 C
ATR C
AUH C
AURKC C
B2M C
B3GALNT2 C
B3GALT6 C
B3GAT3 C
B3GLCT C
B4GALNT1 C
B4GALT1 C
B4GALT7 C
B4GAT1 C
B9D1 C
B9D2 C
BAAT C
BANF1 C
BBIP1 C
BBS1 C
BBS10 C
BBS12 C
BBS2 C
BBS4 C
BBS5 C
BBS7 C
BBS9 C
BCKDHA C
BCKDHB C
BCKDK C
BCL10 C
BCS1L C
BFSP1 C
BFSP2 C
BHLHA9 C
BIN1 C
BLM C
BLNK C
BLOC1S3 C
BLOC1S6 C
BLTP1 C
BLVRA C
BMP1 C
BMPER C
BMPR1B C
BOLA3 C
BPGM C
BPNT2 C
BRAT1 C
BRCA1 C
BRCA2 C
BRF1 C
BRIP1 C
BSCL2 C
BSND C
BTD C
BUB1B C
BVES C
C12orf4 C
C12orf57 C
C19orf12 C
C1QA C
C1QB C
C1QBP C
C1QC C
C1S C
C2CD3 C
C3 C
C4A C
C4B C
C5 C
C8A C
C8B C
C9 C
CA12 C
CA2 C
CA5A C
CA8 C
CABP2 C
CABP4 C
CACNA1B C
CACNA1D C
CACNA2D2 C
CAD C
CAMK2A C
CANT1 C
CAPN1 C
CAPN10 C
CAPN3 C
CARD11 C
CARD9 C
CARS2 C
CASP14 C
CASP8 C
CASQ2 C
CASR C
CAST C
CAT C
CATSPER1 C
CAV1 C
CAVIN1 C
CBLIF C
CBS C
CBX2 C
CC2D1A C
CC2D2A C
CCBE1 C
CCDC103 C
CCDC115 C
CCDC174 C
CCDC39 C
CCDC40 C
CCDC47 C
CCDC65 C
CCDC8 C
CCDC88A C
CCDC88C C
CCN6 C
CCNO C
CCT5 C
CD151 C
CD19 C
CD247 C
CD27 C
CD2AP C
CD320 C
CD3D C
CD3E C
CD3G C
CD40 C
CD55 C
CD59 C
CD79A C
CD79B C
CD81 C
CD8A C
CDAN1 C
CDC14A C
CDC45 C
CDC6 C
CDCA7 C
CDH11 C
CDH23 C
CDH3 C
CDHR1 C
CDIN1 C
CDK10 C
CDK5 C
CDK5RAP2 C
CDK6 C
CDSN C
CDT1 C
CEACAM16 C
CEBPE C
CENPE C
CENPF C
CENPJ C
CEP104 C
CEP120 C
CEP135 C
CEP152 C
CEP164 C
CEP19 C
CEP290 C
CEP41 C
CEP55 C
CEP57 C
CEP63 C
CEP78 C
CEP83 C
CERKL C
CERS1 C
CERS3 C
CFAP298 C
CFAP410 C
CFAP418 C
CFAP53 C
CFD C
CFH C
CFI C
CFL2 C
CFTR C
CHAT C
CHKB C
CHMP1A C
CHP1 C
CHRM3 C
CHRNA1 C
CHRNB1 C
CHRND C
CHRNE C
CHRNG C
CHST11 C
CHST14 C
CHST3 C
CHST6 C
CHST8 C
CHSY1 C
CHUK C
CIB2 C
CIDEC C
CIITA C
CILK1 C
CISD2 C
CIT C
CKAP2L C
CLCF1 C
CLCN1 C
CLCN2 C
CLCN7 C
CLCNKB C
CLDN1 C
CLDN10 C
CLDN14 C
CLDN16 C
CLDN19 C
CLIC5 C
CLIP1 C
CLMP C
CLN3 C
CLN5 C
CLN6 C
CLN8 C
CLP1 C
CLPB C
CLPP C
CLRN1 C
CNGA1 C
CNGA3 C
CNGB1 C
CNGB3 C
CNNM2 C
CNNM4 C
CNPY3 C
CNTN1 C
CNTN2 C
CNTNAP1 C
CNTNAP2 C
COA5 C
COA6 C
COA7 C
COA8 C
COASY C
COCH C
COG1 C
COG2 C
COG4 C
COG5 C
COG6 C
COG7 C
COG8 C
COL11A1 C
COL11A2 C
COL12A1 C
COL13A1 C
COL17A1 C
COL18A1 C
COL1A2 C
COL25A1 C
COL27A1 C
COL3A1 C
COL4A3 C
COL4A4 C
COL6A1 C
COL6A2 C
COL6A3 C
COL7A1 C
COL9A1 C
COL9A2 C
COLEC10 C
COLEC11 C
COLGALT1 C
COLQ C
COPB2 C
COQ2 C
COQ4 C
COQ6 C
COQ7 C
COQ8A C
COQ8B C
COQ9 C
CORO1A C
COX10 C
COX14 C
COX15 C
COX20 C
COX4I2 C
COX6A1 C
COX6A2 C
COX6B1 C
COX8A C
CP C
CPA6 C
CPAMD8 C
CPLANE1 C
CPLX1 C
CPN1 C
CPOX C
CPS1 C
CPT1A C
CPT2 C
CR2 C
CRADD C
CRAT C
CRB1 C
CRB2 C
CRBN C
CREB3L1 C
CRIPT C
CRLF1 C
CRPPA C
CRTAP C
CRYAA C
CRYAB C
CRYBB1 C
CRYBB3 C
CSF1R C
CSF2RB C
CSPP1 C
CSTA C
CSTB C
CTC1 C
CTDP1 C
CTNNA2 C
CTNS C
CTPS1 C
CTSA C
CTSC C
CTSD C
CTSF C
CTSK C
CTU2 C
CUBN C
CUL7 C
CWC27 C
CWF19L1 C
CYB5A C
CYB5R3 C
CYBA C
CYC1 C
CYP11A1 C
CYP11B1 C
CYP11B2 C
CYP17A1 C
CYP19A1 C
CYP1B1 C
CYP21A2 C
CYP24A1 C
CYP26B1 C
CYP26C1 C
CYP27A1 C
CYP27B1 C
CYP2C8 C
CYP2R1 C
CYP2U1 C
CYP4F22 C
CYP4V2 C
CYP7B1 C
D2HGDH C
DAG1 C
DARS1 C
DARS2 C
DBH C
DBT C
DCAF17 C
DCC C
DCDC2 C
DCHS1 C
DCLRE1C C
DCPS C
DDB2 C
DDC C
DDHD1 C
DDHD2 C
DDOST C
DDR2 C
DDRGK1 C
DDX11 C
DDX59 C
DEAF1 C
DEGS1 C
DENND5A C
DES C
DGAT1 C
DGKE C
DGUOK C
DHCR24 C
DHCR7 C
DHDDS C
DHFR C
DHH C
DHODH C
DHPS C
DHTKD1 C
DHX38 C
DIAPH1 C
DIS3L2 C
DLAT C
DLD C
DLL3 C
DLX5 C
DMGDH C
DMP1 C
DMXL2 C
DNA2 C
DNAAF1 C
DNAAF11 C
DNAAF2 C
DNAAF3 C
DNAAF4 C
DNAAF5 C
DNAH1 C
DNAH11 C
DNAH5 C
DNAH9 C
DNAI1 C
DNAI2 C
DNAJB2 C
DNAJC12 C
DNAJC19 C
DNAJC21 C
DNAJC3 C
DNAJC6 C
DNAL1 C
DNASE1L3 C
DNM1L C
DNM2 C
DNMBP C
DNMT3B C
DOCK2 C
DOCK3 C
DOCK6 C
DOCK7 C
DOCK8 C
DOK7 C
DOLK C
DONSON C
DPAGT1 C
DPH1 C
DPM1 C
DPM2 C
DPM3 C
DPY19L2 C
DPYD C
DPYS C
DRAM2 C
DRC1 C
DSC2 C
DSC3 C
DSE C
DSG4 C
DSP C
DST C
DSTYK C
DTNBP1 C
DUOX2 C
DUOXA2 C
DYM C
DYNC1I2 C
DYNC2H1 C
DYNC2I1 C
DYNC2I2 C
DYNC2LI1 C
DYNLT2B C
DYSF C
DZIP1L C
EARS2 C
ECEL1 C
ECHS1 C
ECM1 C
EDAR C
EDARADD C
EDC3 C
EDN1 C
EDN3 C
EDNRB C
EFEMP2 C
EFL1 C
EGF C
EGFR C
EGR2 C
EIF2AK3 C
EIF2AK4 C
EIF2B1 C
EIF2B2 C
EIF2B3 C
EIF2B4 C
EIF2B5 C
EIF3F C
EIF4A3 C
ELAC2 C
ELMO2 C
ELMOD3 C
ELOVL4 C
ELP1 C
ELP2 C
EMC1 C
EMG1 C
EML1 C
EMP2 C
ENAM C
ENO3 C
ENPP1 C
ENTPD1 C
EOGT C
EPB41 C
EPB42 C
EPCAM C
EPG5 C
EPHX1 C
EPM2A C
EPO C
EPRS1 C
EPS8 C
EPS8L2 C
ERAL1 C
ERBB3 C
ERCC1 C
ERCC2 C
ERCC3 C
ERCC4 C
ERCC5 C
ERCC6 C
ERCC6L2 C
ERCC8 C
ERGIC1 C
ERLIN1 C
ERLIN2 C
ESCO2 C
ESPN C
ESR1 C
ESRP1 C
ESRRB C
ETFA C
ETFB C
ETFDH C
ETHE1 C
EVC C
EVC2 C
EXOC6B C
EXOSC2 C
EXOSC3 C
EXOSC8 C
EXOSC9 C
EXPH5 C
EXT2 C
EXTL3 C
EYS C
F10 C
F11 C
F12 C
F13A1 C
F13B C
F2 C
F5 C
F7 C
FA2H C
FADD C
FAH C
FAM161A C
FAM20A C
FAM20C C
FAN1 C
FANCA C
FANCB C
FANCC C
FANCD2 C
FANCE C
FANCF C
FANCG C
FANCI C
FANCL C
FAR1 C
FARS2 C
FARSB C
FASTKD2 C
FAT4 C
FBLN5 C
FBP1 C
FBXL3 C
FBXL4 C
FBXO31 C
FBXO7 C
FCGR3A C
FCN3 C
FCSK C
FDFT1 C
FDX2 C
FDXR C
FECH C
FERMT1 C
FERMT3 C
FEZF1 C
FGA C
FGB C
FGD4 C
FGF20 C
FGF23 C
FGF3 C
FGG C
FH C
FIBP C
FIG4 C
FITM2 C
FKBP10 C
FKBP14 C
FKRP C
FKTN C
FLAD1 C
FLG C
FLNB C
FLVCR1 C
FLVCR2 C
FMN2 C
FMO3 C
FOLR1 C
FOXE1 C
FOXE3 C
FOXI1 C
FOXN1 C
FOXRED1 C
FRAS1 C
FREM1 C
FREM2 C
FRMD4A C
FRRS1L C
FSHB C
FSHR C
FTCD C
FTO C
FUCA1 C
FUT8 C
FXN C
FYCO1 C
FZD6 C
G6PC1 C
G6PC3 C
GAA C
GAB1 C
GAD1 C
GALC C
GALE C
GALK1 C
GALNS C
GALNT2 C
GALNT3 C
GALT C
GAMT C
GAN C
GAS2L2 C
GAS8 C
GATM C
GBA1 C
GBA2 C
GBE1 C
GCDH C
GCH1 C
GCK C
GCLC C
GCNT2 C
GCSH C
GDAP1 C
GDAP2 C
GDF1 C
GDF5 C
GEMIN4 C
GFER C
GFM1 C
GFM2 C
GFPT1 C
GGCX C
GGT1 C
GH1 C
GHR C
GHRHR C
GHSR C
GINS1 C
GIPC3 C
GJA1 C
GJB2 C
GJB6 C
GJC2 C
GLB1 C
GLDC C
GLDN C
GLE1 C
GLIS2 C
GLIS3 C
GLRA1 C
GLRB C
GLRX5 C
GLS C
GLUL C
GLYCTK C
GM2A C
GMPPA C
GMPPB C
GNAT2 C
GNB3 C
GNB5 C
GNE C
GNMT C
GNPAT C
GNPTAB C
GNPTG C
GNRHR C
GNS C
GORAB C
GOSR2 C
GP1BA C
GP1BB C
GP6 C
GP9 C
GPAA1 C
GPC6 C
GPD1 C
GPHN C
GPI C
GPIHBP1 C
GPNMB C
GPR179 C
GPR88 C
GPSM2 C
GPT2 C
GPX4 C
GRAP C
GRHPR C
GRID2 C
GRIK2 C
GRIN1 C
GRIP1 C
GRK1 C
GRM1 C
GRM6 C
GRN C
GRXCR1 C
GRXCR2 C
GSC C