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NGS Skeletal Dysplasia

Panel name NGS Skeletal Dysplasia
Panel method WES-based NGS
Panel version ** AUMC_Skeletdysplasie_v1
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (536) Quality % coverage >30 % coverage >20 Core-NL Note
ABCC9 C
ACAN C
ACP5 C
ACTB C
ACVR1 C
ADAMTS10 C
ADAMTS17 C
ADAMTSL2 C
AGA C
AGPS C
AIFM1 C
ALG12 C
ALG3 C
ALG9 C
ALMS1 C
ALPL C
ALX1 C
ALX3 C
ALX4 C
AMER1 C
AMMECR1 C
ANKH C
ANKRD11 C
ANO5 C
ANTXR2 C
APC2 C
ARCN1 C
ARHGAP31 C
ARID1B C
ARSB C
ARSL C
ATP6V0A2 C
ATR C
B3GALT6 C
B3GAT3 C
B4GALT7 C
BGN C
BHLHA9 C
BMP1 C
BMP2 C
BMPER C
BMPR1B C
BPNT2 C
BRAF C
BRF1 C
BTK C
BTRC C
CA2 C
CANT1 C
CASR C
CBL C
CC2D2A C
CCDC134 C
CCDC8 C
CCN6 C
CCNQ C
CDC42 C
CDC45 C
CDC6 C
CDC73 C
CDKN1C C
CDT1 C
CENPE C
CEP120 C
CEP152 C
CEP290 C
CFAP410 C
CHST11 C
CHST14 C
CHST3 C
CHSY1 C
CILK1 C
CKAP2L C
CLCN5 C
CLCN7 C
COG1 C
COG4 C
COL10A1 C
COL11A1 C
COL11A2 C
COL1A1 C
COL1A2 C
COL27A1 C
COL2A1 C
COL9A1 C
COL9A2 C
COL9A3 C
COLEC11 C
COMP C
CPLANE1 C
CREB3L1 C
CREBBP C
CRIPT C
CRTAP C
CSF1R C
CSGALNACT1 C
CTSA C
CTSK C
CUL7 C
CYP26B1 C
CYP27B1 C
CYP2R1 C
DDR2 C
DDRGK1 C
DHCR24 C
DHODH C
DLL3 C
DLL4 C
DLX3 C
DLX5 C
DLX6 C
DMP1 C
DNA2 C
DNAJC21 C
DNMT3A C
DOCK6 C
DONSON C
DPCD C
DPM1 C
DSE C
DVL1 C
DVL3 C
DYM C
DYNC2H1 C
DYNC2I1 C
DYNC2I2 C
DYNC2LI1 C
DYNLT2B C
EBP C
ECEL1 C
EDN1 C
EDNRA C
EFL1 C
EFNB1 C
EFTUD2 C
EIF2AK3 C
EIF4A3 C
ENPP1 C
EOGT C
EP300 C
ERF C
ESCO2 C
EVC C
EVC2 C
EXOC6B C
EXOSC5 C
EXT1 C
EXT2 C
EXTL3 C
EZH2 C
FAM111A C
FAM20B C
FAM20C C
FAR1 C
FBLN1 C
FBN1 C
FBN2 C
FBXW4 C
FERMT3 C
FGD1 C
FGF10 C
FGF23 C
FGF8 C
FGF9 C
FGFR1 C
FGFR2 C
FGFR3 C
FIG4 C
FKBP10 C
FKBP14 C
FLNA C
FLNB C
FMN1 C
FN1 C
FUCA1 C
FUZ C
FZD2 C
GALNS C
GALNT3 C
GCM2 C
GDF3 C
GDF5 C
GDF6 C
GH1 C
GHR C
GHRHR C
GHSR C
GJA1 C
GLB1 C
GLI2 C
GLI3 C
GMNN C
GNAI3 C
GNAS C
GNPAT C
GNPNAT1 C
GNPTAB C
GNPTG C
GNS C
GORAB C
GPC3 C
GPC6 C
GPR161 C
GPX4 C
GSC C
GUSB C
GZF1 C
HAAO C
HDAC4 C
HDAC8 C
HES7 C
HESX1 C
HGSNAT C
HMGA2 C
HOXA11 C
HOXA13 C
HOXD13 C
HPGD C
HRAS C
HSPA9 C
HSPG2 C
HYLS1 C
IARS2 C
ID4 C
IDH1 C
IDH2 C
IDS C
IDUA C
IFIH1 C
IFITM5 C
IFT122 C
IFT140 C
IFT172 C
IFT43 C
IFT52 C
IFT80 C
IFT81 C
IGF1 C
IGF1R C
IGF2 C
IGFALS C
IGSF1 C
IHH C
IKBKB C
IKBKG C
IL1RN C
IL2RG C
IL6ST C
INPPL1 C
INTU C
KAT6B C
KCNJ2 C
KDELR2 C
KIAA0586 C
KIAA0753 C
KIF22 C
KIF7 C
KL C
KMT2A C
KRAS C
LBR C
LBX1 C
LEMD3 C
LFNG C
LHX3 C
LHX4 C
LIFR C
LMNA C
LMX1B C
LONP1 C
LPIN2 C
LRP4 C
LRP5 C
LRRK1 C
LTBP2 C
LTBP3 C
LYSET C
LZTR1 C
MAFB C
MAN2B1 C
MANBA C
MAP2K1 C
MAP2K2 C
MAP3K20 C
MAP3K7 C
MATN3 C
MBTPS2 C
MECOM C
MEGF8 C
MEOX1 C
MESD C
MESP2 C
MET C
MGP C
MKS1 C
MMP13 C
MMP14 C
MMP2 C
MMP9 C
MNX1 C
MSX2 C
MTAP C
MYCN C
MYH3 C
MYL11 C
MYO18B C
NAGLU C
NANS C
NBAS C
NEK1 C
NEK9 C
NEU1 C
NF1 C
NFIX C
NIN C
NIPBL C
NKX3-2 C
NLRP3 C
NOG C
NOTCH1 C
NOTCH2 C
NPPC C
NPR2 C
NPR3 C
NRAS C
NSD1 C
NSDHL C
NSMCE2 C
NXN C
OBSL1 C
OFD1 C
ORC1 C
ORC4 C
ORC6 C
OSTM1 C
OTX2 C
P3H1 C
P4HB C
PAM16 C
PAPPA2 C
PAPSS2 C
PAX3 C
PCNT C
PCYT1A C
PDE3A C
PDE4D C
PEX5 C
PEX6 C
PEX7 C
PHEX C
PHGDH C
PIGV C
PIK3R1 C
PISD C
PITX1 C
PITX2 C
PKDCC C
PLAG1 C
PLCB3 C
PLCB4 C
PLEKHM1 C
PLK4 C
PLOD1 C
PLOD2 C
PLS3 C
PNPLA6 C
POC1A C
POLE C
POLL C
POLR1A C
POLR1C C
POLR1D C
POLR3A C
POLR3B C
POP1 C
POR C
POU1F1 C
PPIB C
PPM1D C
PPP1CB C
PRKAR1A C
PRKG2 C
PROKR2 C
PROP1 C
PSAT1 C
PSMB1 C
PTDSS1 C
PTH1R C
PTHLH C
PTPN11 C
PYCR1 C
RAB23 C
RAB33B C
RAC3 C
RAD21 C
RAF1 C
RASGRP2 C
RBBP8 C
RBM8A C
RBPJ C
RECQL4 C
RIGI C
RIPPLY2 C
RIT1 C
RNPC3 C
ROR2 C
RPGRIP1L C
RPL10 C
RPL13 C
RRAS C
RREB1 C
RSPO2 C
RSPRY1 C
RUNX2 C
SALL1 C
SALL4 C
SBDS C
SCARF2 C
SEC24D C
SEMA3A C
SERPINF1 C
SERPINH1 C
SETD2 C
SF3B4 C
SFRP4 C
SGMS2 C
SGSH C
SH3BP2 C
SH3PXD2B C
SHH C
SHOC2 C
SHOX C
SKI C
SLC10A7 C
SLC17A5 C
SLC25A24 C
SLC26A2 C
SLC29A3 C
SLC34A3 C
SLC35C1 C
SLC35D1 C
SLC39A13 C
SLCO2A1 C
SLCO5A1 C
SMAD2 C
SMAD3 C
SMAD4 C
SMARCA4 C
SMARCAL1 C
SMARCB1 C
SMARCE1 C
SMC1A C
SMC3 C
SNRPB C
SNX10 C
SOS1 C
SOS2 C
SOST C
SOX2 C
SOX3 C
SOX9 C
SP7 C
SPARC C
SPECC1L C
SPINK5 C
SPR C
SPRED1 C
SRCAP C
SRP54 C
STAT3 C
STAT5B C
SULF1 C
SUMF1 C
TAB2 C
TAPT1 C
TBCE C
TBX15 C
TBX3 C
TBX4 C
TBX5 C
TBX6 C
TBXAS1 C
TCF12 C
TCIRG1 C
TCOF1 C
TCTN2 C
TCTN3 C
TENT5A C
TGDS C
TGFB1 C
TGFB2 C
TGFB3 C
TGFBR1 C
TGFBR2 C
THPO C
TMEM165 C
TMEM216 C
TMEM231 C
TMEM38B C
TMEM67 C
TNFRSF11A C
TNFRSF11B C
TNFSF11 C
TONSL C
TP63 C
TRAF3IP1 C
TRAIP C
TRAPPC2 C
TREM2 C
TRIP11 C
TRPS1 C
TRPV4 C
TRPV6 C
TTC21B C
TTI2 C
TWIST1 C
TYROBP C
UFSP2 C
VAC14 C
VDR C
VPS33A C
VPS35L C
WDR19 C
WDR35 C
WNT1 C
WNT10B C
WNT3 C
WNT5A C
WNT6 C
WNT7A C
XRCC4 C
XYLT1 C
XYLT2 C
ZBTB16 C
ZMPSTE24 C
ZSWIM6 C
Indication(s)
Skeletal Disorders

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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