Skeletal dysplasia (433 genes) - UZA

Gene panel Export to PDF
Full name:
Skeletal dysplasia (433 genes) - UZA
Version number:
WESSD_v2
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Responsible personnel member:
Prof. Wim Wuyts, M.Sc, PhD
Created:
09 Jul 2019 - 11:55
Changed:
18 Jul 2022 - 15:00
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACAN 98.59 0 No comment
ACP5 100.00 0 No comment
ACVR1 100.00 0 No comment
ADAMTS10 96.25 0 No comment
ADAMTS17 88.98 0 No comment
ADAMTSL2 99.89 0 No comment
AGA 99.97 0 No comment
AGPS 96.06 0 No comment
AIFM1 99.79 0 No comment
AKT1 100.00 0 No comment
ALPL 99.89 0 No comment
ALX1 100.00 0 No comment
ALX3 81.82 0 No comment
ALX4 98.63 0 No comment
AMER1 99.98 0 No comment
ANKH 100.00 0 No comment
ANO5 100.00 0 No comment
ANTXR1 99.99 0 No comment
ANTXR2 99.90 0 No comment
APC2 81.13 0 No comment
ARHGAP31 100.00 0 No comment
ARID1B 87.88 0 No comment
ARSL 99.11 0 No comment
ATP6V0A2 99.78 0 No comment
B3GALT6 53.64 0 No comment
B3GAT3 94.57 0 No comment
B4GALT7 94.62 0 No comment
BGN 99.92 0 No comment
BHLHA9 33.67 0 No comment
BMP1 98.10 0 No comment
BMP2 99.98 0 No comment
BMPER 99.99 0 No comment
BMPR1B 100.00 0 No comment
BPNT2 95.84 0 No comment
BVES 100.00 0 No comment
C2CD3 99.98 0 No comment
CA2 99.75 0 No comment
CANT1 99.71 0 No comment
CASR 100.00 0 No comment
CC2D2A 98.16 0 No comment
CCDC8 100.00 0 No comment
CCN6 100.00 0 No comment
CCNQ 85.14 0 No comment
CDC45 99.98 0 No comment
CDC6 100.00 0 No comment
CDC73 99.96 0 No comment
CDH3 99.99 0 No comment
CDKN1C 54.12 0 No comment
CDT1 86.20 0 No comment
CENPE 99.94 0 No comment
CEP120 99.94 0 No comment
CEP152 99.90 0 No comment
CEP290 99.93 0 No comment
CFAP410 97.53 0 No comment
CHST14 91.23 0 No comment
CHST3 99.60 0 No comment
CHSY1 90.40 0 No comment
CILK1 99.98 0 No comment
CKAP2L 99.99 0 No comment
CLCN5 99.91 0 No comment
CLCN7 94.47 0 No comment
COG4 100.00 0 No comment
COL10A1 99.95 0 No comment
COL11A1 99.87 0 No comment
COL11A2 99.39 0 No comment
COL1A1 99.14 0 No comment
COL1A2 99.76 0 No comment
COL27A1 99.30 0 No comment
COL2A1 99.93 0 No comment
COL9A1 99.98 0 No comment
COL9A2 99.91 0 No comment
COL9A3 95.51 0 No comment
COMP 95.73 0 No comment
CORIN 99.08 0 No comment
CREB3L1 99.46 0 No comment
CREBBP 99.91 0 No comment
CRIPT 100.00 0 No comment
CRTAP 81.42 0 No comment
CSF1R 99.99 0 No comment
CSGALNACT1 100.00 0 No comment
CTSA 100.00 0 No comment
CTSK 100.00 0 No comment
CUL7 99.99 0 No comment
CYP27B1 99.99 0 No comment
CYP2R1 99.96 0 No comment
DDR2 99.97 0 No comment
DDRGK1 99.55 0 No comment
DDX58 99.67 0 No comment
DHCR24 99.48 0 No comment
DHODH 100.00 0 No comment
DLL3 70.41 0 No comment
DLL4 100.00 0 No comment
DLX3 99.32 0 No comment
DLX5 100.00 0 No comment
DLX6 97.97 0 No comment
DMP1 100.00 0 No comment
DNA2 99.94 0 No comment
DNAJC21 98.67 0 No comment
DNMT3A 99.93 0 No comment
DOCK6 99.33 0 No comment
DSE 99.98 0 No comment
DVL1 99.70 0 No comment
DVL3 99.34 0 No comment
DYM 99.96 0 No comment
DYNC2H1 99.85 0 No comment
DYNC2I1 99.46 0 No comment
DYNC2I2 90.81 0 No comment
DYNC2LI1 100.00 0 No comment
DYNLT2B 100.00 0 No comment
EDN1 100.00 0 No comment
EDNRA 100.00 0 No comment
EED 100.00 0 No comment
EFL1 100.00 0 No comment
EFNB1 99.50 0 No comment
EFTUD2 99.97 0 No comment
EIF2AK3 93.20 0 No comment
EIF4A3 99.96 0 No comment
ENPP1 94.24 0 No comment
EOGT 99.98 0 No comment
EP300 99.98 0 No comment
ERF 99.52 0 No comment
ESCO2 99.58 0 No comment
EVC 94.28 0 No comment
EVC2 95.65 0 No comment
EXOC6B 99.77 0 No comment
EXT1 100.00 0 No comment
EXT2 100.00 0 No comment
EXTL3 100.00 0 No comment
EZH2 99.99 0 No comment
FAM111A 100.00 0 No comment
FAM20B 100.00 0 No comment
FAM20C 85.07 0 No comment
FAR1 99.97 0 No comment
FBLN1 96.88 0 No comment
FBN1 99.99 0 No comment
FBN2 100.00 0 No comment
FERMT3 99.98 0 No comment
FGF10 99.98 0 No comment
FGF23 100.00 0 No comment
FGF9 99.86 0 No comment
FGFR1 100.00 0 No comment
FGFR2 100.00 0 No comment
FGFR3 96.50 0 No comment
FIG4 99.98 0 No comment
FKBP10 99.89 0 No comment
FKBP14 100.00 0 No comment
FLNA 99.50 0 No comment
FLNB 99.96 0 No comment
FMN1 98.98 0 No comment
FN1 100.00 0 No comment
FUCA1 96.54 0 No comment
FUZ 99.97 0 No comment
FZD2 94.05 0 No comment
GALNS 97.56 0 No comment
GALNT3 100.00 0 No comment
GCM2 100.00 0 No comment
GDF3 99.99 0 No comment
GDF5 99.89 0 No comment
GDF6 78.76 0 No comment
GJA1 100.00 0 No comment
GLB1 99.90 0 No comment
GLI3 99.57 0 No comment
GMNN 99.76 0 No comment
GNAI3 99.97 0 No comment
GNAS 98.02 0 No comment
GNPAT 99.41 0 No comment
GNPTAB 99.99 0 No comment
GNPTG 93.83 0 No comment
GNS 99.78 0 No comment
GORAB 99.99 0 No comment
GPC6 99.87 0 No comment
GPX4 80.82 0 No comment
GREM1 100.00 0 No comment
GSC 67.17 0 No comment
GUSB 99.07 0 No comment
GZF1 100.00 0 No comment
HAAO 100.00 0 No comment
HDAC4 99.98 0 No comment
HDAC8 99.86 0 No comment
HES7 73.20 0 No comment
HGSNAT 93.82 0 No comment
HHAT 87.10 0 No comment
HOXA11 93.99 0 No comment
HOXA13 62.78 0 No comment
HOXD13 79.39 0 No comment
HPGD 99.90 0 No comment
HRAS 100.00 0 No comment
HSPA9 99.97 0 No comment
HSPG2 99.38 0 No comment
IARS2 99.34 0 No comment
ID4 47.73 0 No comment
IDH1 100.00 0 No comment
IDH2 91.74 0 No comment
IDS 99.52 0 No comment
IDUA 72.91 0 No comment
IFIH1 99.99 0 No comment
IFITM5 100.00 0 No comment
IFT122 99.99 0 No comment
IFT140 99.46 0 No comment
IFT172 100.00 0 No comment
IFT43 99.98 0 No comment
IFT52 99.90 0 No comment
IFT80 100.00 0 No comment
IFT81 94.31 0 No comment
IHH 95.41 0 No comment
IKBKG 95.61 0 No comment
IL1RN 100.00 0 No comment
INPPL1 96.15 0 No comment
INTU 99.96 0 No comment
KAT6B 100.00 0 No comment
KCNJ2 100.00 0 No comment
KIAA0586 95.67 0 No comment
KIAA0753 99.93 0 No comment
KIF22 99.96 0 No comment
KIF7 93.03 0 No comment
KL 94.49 0 No comment
KYNU 99.83 0 No comment
LBR 99.79 0 No comment
LEMD3 99.18 0 No comment
LFNG 77.64 0 No comment
LIFR 99.96 0 No comment
LMNA 99.82 0 No comment
LMX1B 99.15 0 No comment
LONP1 96.60 0 No comment
LPIN2 99.99 0 No comment
LRP5 98.04 0 No comment
LRRK1 98.30 0 No comment
LTBP2 99.15 0 No comment
LTBP3 90.23 0 No comment
MAFB 93.44 0 No comment
MAN2B1 99.85 0 No comment
MANBA 99.98 0 No comment
MAP2K1 99.83 0 No comment
MAP3K20 99.97 0 No comment
MAP3K7 99.98 0 No comment
MATN3 84.95 0 No comment
MBTPS2 99.93 0 No comment
MECOM 100.00 0 No comment
MEGF8 99.86 0 No comment
MEOX1 100.00 0 No comment
MESP2 92.59 0 No comment
MET 100.00 0 No comment
MGP 100.00 0 No comment
MKS1 99.98 0 No comment
MMP13 99.97 0 No comment
MMP14 99.96 0 No comment
MMP2 99.64 0 No comment
MMP9 99.22 0 No comment
MNX1 57.45 0 No comment
MSX2 96.59 0 No comment
MTAP 100.00 0 No comment
MYCN 82.68 0 No comment
MYH3 100.00 0 No comment
MYO18B 99.99 0 No comment
NAGLU 83.94 0 No comment
NANS 99.98 0 No comment
NBAS 99.97 0 No comment
NEK1 99.99 0 No comment
NEU1 100.00 0 No comment
NF1 99.55 0 No comment
NFIX 98.02 0 No comment
NIPBL 99.88 0 No comment
NKX3-2 81.45 0 No comment
NLRP3 99.84 0 No comment
NOG 97.28 0 No comment
NOTCH1 98.74 0 No comment
NOTCH2 99.99 0 No comment
NPPC 96.84 0 No comment
NPRL2 100.00 0 No comment
NPRL3 98.86 0 No comment
NRAS 99.83 0 No comment
NSD1 99.98 0 No comment
NSDHL 99.99 0 No comment
NSMCE2 100.00 0 No comment
NXN 88.52 0 No comment
OBSL1 92.70 0 No comment
OFD1 99.25 0 No comment
ORC4 99.80 0 No comment
ORC6 99.76 0 No comment
OSTM1 98.35 0 No comment
P3H1 97.17 0 No comment
P4HB 98.23 0 No comment
PAM16 99.79 0 No comment
PAPSS2 99.05 0 No comment
PAX3 100.00 0 No comment
PCNT 99.77 0 No comment
PCYT1A 99.99 0 No comment
PDE3A 99.86 0 No comment
PDE4D 95.51 0 No comment
PEX5 99.80 0 No comment
PEX7 89.02 0 No comment
PHEX 96.86 0 No comment
PIGV 100.00 0 No comment
PIK3CA 99.96 0 No comment
PISD 100.00 0 No comment
PITX1 85.50 0 No comment
PLCB3 99.69 0 No comment
PLCB4 99.82 0 No comment
PLEKHM1 100.00 0 No comment
PLOD1 98.85 0 No comment
PLOD2 99.98 0 No comment
PLS3 99.84 0 No comment
POLE 99.35 0 No comment
POLR1A 99.98 0 No comment
POLR1C 90.66 0 No comment
POLR1D 99.79 0 No comment
POLR3A 99.99 0 No comment
POLR3B 99.77 0 No comment
PORCN 100.00 0 No comment
PPIB 99.77 0 No comment
PRKAR1A 100.00 0 No comment
PTDSS1 100.00 0 No comment
PTH1R 99.25 0 No comment
PTHLH 100.00 0 No comment
PTPN11 99.63 0 No comment
PYCR1 99.89 0 No comment
RAB23 100.00 0 No comment
RAB33B 100.00 0 No comment
RAD21 99.73 0 No comment
RASGRP2 99.98 0 No comment
RBBP8 99.92 0 No comment
RBM8A 100.00 0 No comment
RBPJ 99.99 0 No comment
RECQL4 96.02 0 No comment
RIPPLY2 99.13 0 No comment
ROR2 96.45 0 No comment
RPGRIP1L 97.08 0 No comment
RSPO2 100.00 0 No comment
RSPRY1 100.00 0 No comment
RUNX2 98.89 0 No comment
SALL1 99.99 0 No comment
SALL4 99.95 0 No comment
SBDS 100.00 0 No comment
SEC24D 99.96 0 No comment
SERPINF1 99.98 0 No comment
SERPINH1 99.95 0 No comment
SETD2 99.95 0 No comment
SF3B4 99.99 0 No comment
SFRP4 100.00 0 No comment
SGMS2 100.00 0 No comment
SGSH 98.08 0 No comment
SH3BP2 91.41 0 No comment
SH3PXD2B 98.58 0 No comment
SHH 84.39 0 No comment
SHOX 87.73 0 No comment
SLC10A7 100.00 0 No comment
SLC17A5 99.77 0 No comment
SLC25A15 100.00 0 No comment
SLC26A2 100.00 0 No comment
SLC29A3 99.67 0 No comment
SLC34A3 99.88 0 No comment
SLC35D1 99.47 0 No comment
SLC39A13 100.00 0 No comment
SLCO2A1 96.63 0 No comment
SLCO5A1 100.00 0 No comment
SLURP1 89.49 0 No comment
SMAD2 99.95 0 No comment
SMAD3 99.84 0 No comment
SMAD4 100.00 0 No comment
SMARCA4 99.96 0 No comment
SMARCAL1 99.97 0 No comment
SMARCB1 99.82 0 No comment
SMARCE1 99.93 0 No comment
SMC1A 99.50 0 No comment
SMC3 99.89 0 No comment
SNRPB 100.00 0 No comment
SNX10 100.00 0 No comment
SOST 85.47 0 No comment
SOX9 94.02 0 No comment
SP7 100.00 0 No comment
SPARC 99.99 0 No comment
SRP54 100.00 0 No comment
SULF1 100.00 0 No comment
SUMF1 99.78 0 No comment
SUZ12 94.61 0 No comment
TAB2 99.99 0 No comment
TBCE 99.22 0 No comment
TBX15 100.00 0 No comment
TBX3 96.00 0 No comment
TBX4 93.25 0 No comment
TBX5 99.94 0 No comment
TBX6 99.96 0 No comment
TBXAS1 99.97 0 No comment
TCF12 100.00 0 No comment
TCIRG1 99.81 0 No comment
TCOF1 99.93 0 No comment
TCTN3 100.00 0 No comment
TENT5A 100.00 0 No comment
TGDS 99.98 0 No comment
TGFB1 96.92 0 No comment
TGFB2 99.98 0 No comment
TGFB3 100.00 0 No comment
TGFBR1 93.53 0 No comment
TGFBR2 99.95 0 No comment
THPO 99.99 0 No comment
TMEM165 84.88 0 No comment
TMEM216 99.47 0 No comment
TMEM38B 99.95 0 No comment
TMEM67 98.60 0 No comment
TNFRSF11A 93.69 0 No comment
TNFRSF11B 100.00 0 No comment
TNFSF11 92.51 0 No comment
TONSL 97.93 0 No comment
TP63 100.00 0 No comment
TRAF3IP1 99.21 0 No comment
TRAIP 100.00 0 No comment
TRAPPC2 99.83 0 No comment
TREM2 100.00 0 No comment
TRIP11 100.00 0 No comment
TRPS1 100.00 0 No comment
TRPV4 99.94 0 No comment
TRPV6 97.14 0 No comment
TTC21B 99.99 0 No comment
TWIST1 65.85 0 No comment
TYROBP 100.00 0 No comment
UFSP2 99.95 0 No comment
VAC14 99.95 0 No comment
VDR 99.98 0 No comment
VPS33A 100.00 0 No comment
WDR19 99.86 0 No comment
WDR35 99.96 0 No comment
WNT1 93.71 0 No comment
WNT10B 97.02 0 No comment
WNT3 99.97 0 No comment
WNT5A 98.62 0 No comment
WNT6 86.02 0 No comment
WNT7A 99.99 0 No comment
XRCC4 100.00 0 No comment
XYLT1 87.54 0 No comment
XYLT2 99.56 0 No comment
ZMPSTE24 99.99 0 No comment
ZSWIM6 86.31 0 No comment