Skeletal dysplasia (genepanel) - UZA

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Full name:	Skeletal dysplasia (genepanel) - UZA
Version number:	WESSD_v3
Laboratory:	Centrum Medische Genetica - UZ Antwerpen
Created:	09 Jul 2019 - 11:55
Changed:	28 Nov 2023 - 06:48

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABCC9	99.99	1
ABL1	100.00	1
ACAN	98.67	1
ACP5	100.00	1
ACTB	100.00	1
ACTG1	100.00	1
ACVR1	100.00	1
ADAMTS10	100.00	1
ADAMTS17	98.97	1
ADAMTSL2	100.00	1
AFF3	100.00	1
AGA	100.00	1
AGPS	99.76	1
AIFM1	100.00	1
AKT1	100.00	1
AKT2	100.00	1
ALG12	100.00	1
ALG3	100.00	1
ALG9	94.06	1
ALPL	100.00	1
ALX1	100.00	1
ALX3	100.00	1
ALX4	100.00	1
AMER1	100.00	1
ANAPC1	99.82	1
ANKH	100.00	1
ANKRD11	100.00	1
ANO5	100.00	1
ANTXR2	100.00	1
APC2	99.99	1
ARCN1	100.00	1
ARHGAP25	100.00	1
ARHGAP31	100.00	1
ARID1A	99.99	1
ARID1B	99.51	1
ARL6	100.00	1
ARSB	99.92	1
ARSK	99.98	1
ARSL	100.00	1
ASAH1	99.99	1
ASXL1	100.00	1
ATP6V0A2	100.00	1
ATP7A	100.00	1
ATR	99.98	1
B3GALT6	92.42	1
B3GAT3	94.88	1
B4GALT7	99.95	1
B9D2	100.00	1
BANF1	100.00	1
BBS1	100.00	1
BBS10	100.00	1
BBS12	100.00	1
BBS2	100.00	1
BBS4	100.00	1
BBS5	99.97	1
BBS7	99.97	1
BBS9	99.96	1
BGN	100.00	1
BHLHA9	99.55	1
BMP1	100.00	1
BMP2	99.98	1
BMPER	100.00	1
BMPR1B	100.00	1
BNIP1	100.00	1
BPNT2	100.00	1
C2CD3	99.99	1
CA2	100.00	1
CANT1	99.97	1
CASR	100.00	1
CBFB	100.00	1
CC2D2A	98.21	1
CCDC134	100.00	1
CCDC8	100.00	1
CCN6	100.00	1
CCNQ	99.81	1
CDC45	100.00	1
CDC6	100.00	1
CDC73	99.98	1
CDH3	100.00	1
CDK10	100.00	1
CDKN1C	100.00	1
CDT1	99.07	1
CENPE	99.92	1
CEP120	99.96	1
CEP152	99.99	1
CEP290	99.84	1
CFAP410	100.00	1
CHST11	100.00	1
CHST14	99.49	1
CHST3	100.00	1
CHSY1	99.98	1
CILK1	99.92	1
CKAP2L	100.00	1
CLCN5	100.00	1
CLCN7	99.78	1
COG1	100.00	1
COG4	100.00	1
COL10A1	100.00	1
COL11A1	99.99	1
COL11A2	100.00	1
COL1A1	100.00	1
COL1A2	100.00	1
COL27A1	100.00	1
COL2A1	100.00	1
COL9A1	99.99	1
COL9A2	100.00	1
COL9A3	100.00	1
COLEC10	100.00	1
COLEC11	100.00	1
COMP	100.00	1
COPB2	100.00	1
CPLANE1	99.97	1
CREB3L1	100.00	1
CREBBP	100.00	1
CRIPT	100.00	1
CRTAP	99.90	1
CSF1R	100.00	1
CSGALNACT1	100.00	1
CSPP1	99.99	1
CTSA	100.00	1
CTSK	100.00	1
CUL7	100.00	1
CYP26B1	100.00	1
CYP27B1	100.00	1
CYP2R1	98.84	1
CYP3A4	99.94	1
DDR2	100.00	1
DDRGK1	100.00	1
DHCR24	100.00	1
DHODH	100.00	1
DLL3	99.85	1
DLL4	100.00	1
DLX3	100.00	1
DLX5	100.00	1
DLX6	100.00	1
DMP1	100.00	1
DNA2	99.99	1
DNAJC21	100.00	1
DNMT3A	100.00	1
DOCK6	100.00	1
DONSON	99.81	1
DPAGT1	100.00	1
DPM1	97.07	1
DSE	99.66	1
DSPP	100.00	1
DVL1	100.00	1
DVL3	100.00	1
DYM	99.99	1
DYNC2H1	99.84	1
DYNC2I1	96.68	1
DYNC2I2	100.00	1
DYNC2LI1	100.00	1
DYNLT2B	100.00	1
EBP	100.00	1
EDN1	100.00	1
EDNRA	100.00	1
EED	100.00	1
EFL1	100.00	1
EFNB1	100.00	1
EFTUD2	100.00	1
EIF2AK3	99.96	1
EIF4A3	99.99	1
ELMO2	100.00	1
EN1	100.00	1
ENPP1	99.27	1
EOGT	99.99	1
EP300	100.00	1
EPS15L1	100.00	1
ERF	100.00	1
ESCO2	99.74	1
EVC	96.08	1
EVC2	100.00	1
EXOC6B	99.77	1
EXT1	100.00	1
EXT2	100.00	1
EXTL3	100.00	1
EZH2	99.98	1
FAM111A	100.00	1
FAM20B	100.00	1
FAM20C	99.99	1
FANCB	100.00	1
FAR1	99.98	1
FBLN1	99.89	1
FBN1	100.00	1
FBN2	99.99	1
FBXW4	98.98	1
FERMT3	100.00	1
FGD1	100.00	1
FGF10	100.00	1
FGF16	100.00	1
FGF23	100.00	1
FGF9	99.98	1
FGFR1	100.00	1
FGFR2	100.00	1
FGFR3	100.00	1
FIG4	100.00	1
FKBP10	100.00	1
FKBP14	99.95	1
FLNA	100.00	1
FLNB	100.00	1
FMN1	100.00	1
FN1	100.00	1
FOSL2	100.00	1
FOXC1	99.89	1
FUCA1	100.00	1
FUZ	100.00	1
FZD2	100.00	1
GALNS	100.00	1
GALNT3	99.99	1
GCM2	100.00	1
GDF3	100.00	1
GDF5	100.00	1
GDF6	99.99	1
GINS2	100.00	1
GJA1	100.00	1
GLB1	100.00	1
GLI2	100.00	1
GLI3	100.00	1
GMNN	99.99	1
GNAI3	99.99	1
GNAS	100.00	1
GNPAT	99.96	1
GNPNAT1	99.99	1
GNPTAB	100.00	1
GNPTG	99.45	1
GNS	100.00	1
GORAB	99.99	1
GPC3	100.00	1
GPC4	100.00	1
GPC6	100.00	1
GPX4	96.50	1
GREM1	100.00	1
GSC	100.00	1
GUSB	100.00	1
GZF1	100.00	1
HAAO	100.00	1
HDAC4	100.00	1
HDAC8	100.00	1
HES7	100.00	1
HGSNAT	96.79	1
HHAT	100.00	1
HNRNPK	100.00	1
HOXA11	100.00	1
HOXA13	96.84	1
HOXD13	100.00	1
HPGD	99.99	1
HRAS	100.00	1
HS2ST1	99.93	1
HSPA9	100.00	1
HSPG2	99.99	1
HYAL1	100.00	1
IARS2	100.00	1
ID4	97.95	1
IDH1	100.00	1
IDH2	99.93	1
IDS	100.00	1
IDUA	99.84	1
IFIH1	99.99	1
IFITM5	100.00	1
IFT122	100.00	1
IFT140	100.00	1
IFT172	100.00	1
IFT43	100.00	1
IFT52	100.00	1
IFT80	99.94	1
IFT81	94.63	1
IHH	100.00	1
IKBKG	100.00	1
IL11RA	100.00	1
IL1RN	100.00	1
IL6ST	99.99	1
INPPL1	99.93	1
INTU	100.00	1
KAT6B	100.00	1
KCNJ2	100.00	1
KDELR2	100.00	1
KIAA0586	95.70	1
KIAA0753	100.00	1
KIAA0825	99.99	1
KIF22	100.00	1
KIF5B	99.93	1
KIF7	99.98	1
KL	98.69	1
KYNU	99.99	1
LAMA5	99.87	1
LBR	99.99	1
LEMD3	100.00	1
LFNG	94.20	1
LIFR	99.94	1
LMBR1	99.96	1
LMNA	100.00	1
LMOD3	100.00	1
LMX1B	100.00	1
LONP1	100.00	1
LPIN2	99.99	1
LRP4	100.00	1
LRP5	100.00	1
LRRK1	100.00	1
LTBP1	100.00	1
LTBP2	100.00	1
LTBP3	100.00	1
LYSET	100.00	1
MAB21L2	100.00	1
MAFB	100.00	1
MAN2B1	100.00	1
MANBA	99.99	1
MAP2K1	100.00	1
MAP3K20	100.00	1
MAP3K7	100.00	1
MAPKAPK5	100.00	1
MASP1	100.00	1
MATN3	99.95	1
MBTPS1	100.00	1
MBTPS2	100.00	1
MCM3	100.00	1
MCM5	100.00	1
MCM7	100.00	1
MECOM	100.00	1
MEGF8	99.96	1
MEOX1	100.00	1
MESD	100.00	1
MESP2	100.00	1
MET	100.00	1
MGP	100.00	1
MID1	100.00	1
MKKS	99.98	1
MKS1	100.00	1
MMP13	99.99	1
MMP14	100.00	1
MMP2	100.00	1
MMP9	100.00	1
MNX1	87.84	1
MSX2	100.00	1
MTAP	100.00	1
MTX2	99.95	1
MYCN	99.97	1
MYH3	100.00	1
MYO18B	100.00	1
NADSYN1	100.00	1
NAGLU	99.96	1
NANS	100.00	1
NBAS	100.00	1
NEK1	99.99	1
NEPRO	99.99	1
NEU1	100.00	1
NF1	99.98	1
NFIX	99.97	1
NIPBL	99.91	1
NKX3-2	100.00	1
NLRP3	100.00	1
NMNAT1	95.03	1
NOG	100.00	1
NOTCH1	100.00	1
NOTCH2	100.00	1
NPPC	100.00	1
NPR2	100.00	1
NPR3	100.00	1
NRAS	99.97	1
NSD1	100.00	1
NSDHL	100.00	1
NSMCE2	100.00	1
NXN	100.00	1
OBSL1	99.99	1
OFD1	100.00	1
ORC1	100.00	1
ORC4	100.00	1
ORC6	99.99	1
OSTM1	99.96	1
P3H1	100.00	1
P4HB	100.00	1
PAM16	100.00	1
PAPSS2	99.93	1
PAX3	100.00	1
PCNT	100.00	1
PCYT1A	100.00	1
PDE3A	100.00	1
PDE4D	99.99	1
PDGFRB	100.00	1
PEX5	100.00	1
PEX7	100.00	1
PGM3	100.00	1
PHEX	99.99	1
PHGDH	100.00	1
PIGV	100.00	1
PIK3C2A	99.99	1
PIK3CA	99.97	1
PISD	100.00	1
PITX1	100.00	1
PKDCC	99.76	1
PLCB3	100.00	1
PLCB4	100.00	1
PLEKHM1	100.00	1
PLOD1	100.00	1
PLOD2	99.95	1
PLS3	100.00	1
POC1A	100.00	1
POLE	100.00	1
POLR1A	100.00	1
POLR1B	100.00	1
POLR1C	97.57	1
POLR1D	99.94	1
POLR3A	100.00	1
POLR3B	99.98	1
POLR3GL	100.00	1
POP1	100.00	1
POR	100.00	1
PORCN	100.00	1
PPIB	100.00	1
PRKACA	100.00	1
PRKACB	100.00	1
PRKAR1A	100.00	1
PRKG2	99.98	1
PRMT7	99.99	1
PRRX1	100.00	1
PTDSS1	100.00	1
PTH1R	100.00	1
PTHLH	100.00	1
PTPN11	99.98	1
PYCR1	100.00	1
RAB23	100.00	1
RAB33B	100.00	1
RAD21	100.00	1
RASGRP2	100.00	1
RBBP8	99.96	1
RBM8A	100.00	1
RBPJ	100.00	1
RECQL4	99.80	1
RFLNA	99.50	1
RIGI	99.97	1
RINT1	99.95	1
RIPPLY2	99.85	1
ROR2	99.98	1
RPGRIP1L	98.82	1
RPL13	100.00	1
RSPO2	100.00	1
RSPRY1	100.00	1
RUNX2	100.00	1
SALL1	100.00	1
SALL4	100.00	1
SBDS	100.00	1
SCUBE3	100.00	1
SDCCAG8	99.99	1
SEC23A	99.98	1
SEC24D	100.00	1
SERPINF1	100.00	1
SERPINH1	100.00	1
SETD2	99.99	1
SF3B4	100.00	1
SFRP4	100.00	1
SGMS2	100.00	1
SGSH	100.00	1
SH3BP2	98.03	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOX	94.83	1
SIX1	100.00	1
SIX2	100.00	1
SKI	100.00	1
SLC10A7	100.00	1
SLC17A5	99.99	1
SLC25A24	99.30	1
SLC26A2	100.00	1
SLC29A3	100.00	1
SLC34A3	100.00	1
SLC35B2	100.00	1
SLC35D1	99.68	1
SLC39A13	100.00	1
SLC4A2	100.00	1
SLCO2A1	100.00	1
SLCO5A1	100.00	1
SMAD2	100.00	1
SMAD3	100.00	1
SMAD4	100.00	1
SMAD6	100.00	1
SMARCA4	100.00	1
SMARCAL1	100.00	1
SMARCB1	100.00	1
SMARCE1	99.97	1
SMC1A	100.00	1
SMC3	99.98	1
SMCHD1	99.97	1
SMO	99.99	1
SMOC1	100.00	1
SMS	100.00	1
SNRPB	100.00	1
SNX10	99.97	1
SOST	100.00	1
SOX9	100.00	1
SP7	100.00	1
SPARC	100.00	1
SPECC1L	100.00	1
SQSTM1	100.00	1
SRP54	99.97	1
SULF1	100.00	1
SUMF1	100.00	1
SUZ12	99.97	1
TAB2	100.00	1
TAPT1	98.76	1
TBC1D24	100.00	1
TBCE	100.00	1
TBX15	100.00	1
TBX3	100.00	1
TBX4	99.45	1
TBX5	100.00	1
TBX6	100.00	1
TBXAS1	99.99	1
TCF12	100.00	1
TCIRG1	100.00	1
TCOF1	100.00	1
TCTN1	94.52	1
TCTN2	99.95	1
TCTN3	100.00	1
TENT5A	100.00	1
TFAP2B	100.00	1
TGDS	99.99	1
TGFB1	100.00	1
TGFB2	100.00	1
TGFB3	100.00	1
TGFBR1	100.00	1
TGFBR2	100.00	1
THPO	100.00	1
TMCO1	99.91	1
TMEM138	100.00	1
TMEM165	99.97	1
TMEM216	100.00	1
TMEM231	100.00	1
TMEM237	99.98	1
TMEM38B	100.00	1
TMEM53	100.00	1
TMEM67	99.30	1
TNFRSF11A	97.91	1
TNFRSF11B	100.00	1
TNFSF11	100.00	1
TONSL	100.00	1
TOP2B	99.85	1
TP63	99.99	1
TRAF3IP1	100.00	1
TRAF7	100.00	1
TRAIP	100.00	1
TRAPPC2	100.00	1
TREM2	100.00	1
TRIM32	100.00	1
TRIP11	99.98	1
TRPS1	100.00	1
TRPV4	100.00	1
TRPV6	99.41	1
TTC21B	99.97	1
TTC8	99.96	1
TWIST1	100.00	1
TYROBP	100.00	1
UBA2	99.97	1
UFSP2	99.99	1
VAC14	100.00	1
VCP	100.00	1
VDR	99.44	1
VPS33A	95.74	1
WDPCP	91.91	1
WDR19	99.94	1
WDR35	99.99	1
WNT1	100.00	1
WNT10B	100.00	1
WNT3	100.00	1
WNT5A	100.00	1
WNT6	100.00	1
WNT7A	100.00	1
XRCC4	100.00	1
XYLT1	98.81	1
XYLT2	100.00	1
ZIC1	100.00	1
ZIC3	100.00	1
ZMPSTE24	99.99	1
ZNF462	100.00	1
ZSWIM6	97.48	1