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