Skeletal dysplasia - UGent

Gene panel Export to PDF
Full name:
Skeletal dysplasia - UGent
Version number:
v3
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
15 Dec 2020 - 17:02
Changed:
03 Jan 2023 - 13:16
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ABCC9 99.92 1
ABL1 100.00 1
ACAN 91.51 1
ACP5 100.00 1
ACVR1 99.94 1
ADAMTS10 99.99 1
ADAMTS17 99.99 1
ADAMTSL2 99.99 1
AFF4 99.94 1
AGA 99.92 1
AGPS 98.83 1
AHDC1 100.00 1
AKT1 100.00 1
ALG12 100.00 1
ALG3 99.96 1
ALG9 99.73 1
ALPL 99.88 1
ALX1 97.99 1
ALX3 99.74 1
ALX4 100.00 1
AMER1 100.00 1
ANAPC1 75.83 1
ANKH 99.95 1
ANKRD11 99.85 1
ANO5 99.85 1
ANTXR2 99.67 1
ARHGAP31 100.00 1
ARID1A 99.83 1
ARID1B 99.69 1
ARSL 99.93 1
ASXL1 100.00 1
ASXL2 99.82 1
ATP6V0A2 99.92 1
B3GALT6 100.00 1
B3GAT3 87.74 1
B3GLCT 99.90 1
B4GALT7 99.99 1
B9D1 99.80 1
BBS1 100.00 1
BBS10 99.98 1
BBS12 100.00 1
BBS2 99.90 1
BBS4 99.88 1
BBS5 99.00 1
BBS7 99.42 1
BBS9 99.75 1
BHLHA9 100.00 1
BMP1 99.94 1
BMP2 99.79 1
BMPER 99.94 1
BMPR1B 99.61 1
BPNT2 100.00 1
BVES 99.94 1
C2CD3 99.88 1
CA2 99.62 1
CANT1 100.00 1
CASR 99.99 1
CC2D2A 99.95 1
CCDC134 100.00 1
CCDC8 100.00 1
CCN6 99.89 1
CCNQ 99.98 1
CD96 99.91 1
CDC45 99.77 1
CDC6 99.85 1
CDH3 99.98 1
CDKN1C 100.00 1
CDT1 100.00 1
CEP120 99.90 1
CEP290 98.10 1
CFAP410 100.00 1
CHD7 99.99 1
CHST14 100.00 1
CHST3 100.00 1
CHSY1 99.99 1
CILK1 99.69 1
CKAP2L 99.54 1
CLCN5 99.67 1
CLCN7 99.99 1
COG1 100.00 1
COG4 99.96 1
COL10A1 100.00 1
COL11A1 90.72 1
COL11A2 99.99 1
COL1A1 99.90 1
COL1A2 99.34 1
COL2A1 99.87 1
COL9A1 99.91 1
COL9A2 98.76 1
COL9A3 99.99 1
COLEC11 100.00 1
COMP 100.00 1
CORIN 99.89 1
CPLANE1 99.81 1
CREB3L1 99.88 1
CREBBP 99.97 1
CRTAP 99.98 1
CSF1R 99.92 1
CSGALNACT1 100.00 1
CSPP1 98.31 1
CTSA 99.98 1
CTSC 99.97 1
CTSK 99.31 1
CUL7 100.00 1
CYP27B1 99.98 1
CYP2R1 99.96 1
DCC 99.96 1
DDR2 99.58 1
DDX59 99.67 1
DHCR24 99.93 1
DHCR7 99.97 1
DHODH 99.99 1
DIP2C 100.00 1
DLL3 100.00 1
DLL4 100.00 1
DLX3 99.98 1
DLX5 99.98 1
DLX6 99.82 1
DMP1 99.99 1
DNMT3A 100.00 1
DOCK6 100.00 1
DPAGT1 100.00 1
DPM1 90.68 1
DSPP 99.99 1
DVL1 100.00 1
DVL3 99.99 1
DYM 99.96 1
DYNC2H1 99.66 1
DYNC2I1 99.99 1
DYNC2I2 99.98 1
DYNC2LI1 99.94 1
DYNLT2B 100.00 1
EDNRA 99.97 1
EFNA4 99.92 1
EFNB1 99.95 1
EFTUD2 99.93 1
EIF2AK3 97.43 1
EIF4A3 99.99 1
ENPP1 99.88 1
EOGT 99.09 1
EP300 99.97 1
ERCC4 99.92 1
ERF 99.98 1
ESCO2 99.92 1
EVC 99.95 1
EVC2 99.97 1
EXT1 99.94 1
EXT2 99.98 1
EXTL3 99.99 1
EZH2 99.89 1
FAM111A 100.00 1
FAM20C 100.00 1
FBLN1 98.69 1
FBN1 99.85 1
FBN2 99.90 1
FBXW4 99.31 1
FERMT3 99.99 1
FGF10 99.95 1
FGF16 99.60 1
FGF23 100.00 1
FGF3 99.97 1
FGF4 100.00 1
FGF8 100.00 1
FGF9 100.00 1
FGFR1 100.00 1
FGFR2 99.99 1
FGFR3 100.00 1
FIG4 99.83 1
FKBP10 99.98 1
FLNA 99.99 1
FLNB 99.98 1
FMN1 99.98 1
FREM1 99.98 1
FUCA1 98.72 1
FZD2 99.98 1
GALNS 99.98 1
GALNT3 99.52 1
GDF3 100.00 1
GDF5 100.00 1
GDF6 100.00 1
GFER 100.00 1
GJA1 100.00 1
GLB1 100.00 1
GLI3 100.00 1
GNAS 100.00 1
GNPAT 99.78 1
GNPNAT1 99.99 1
GNPTAB 99.76 1
GNPTG 100.00 1
GNS 99.59 1
GORAB 99.59 1
GPC6 99.98 1
GPX4 100.00 1
GREM1 100.00 1
GUSB 95.07 1
GZF1 100.00 1
HDAC4 99.98 1
HDAC8 99.74 1
HES7 100.00 1
HGSNAT 99.93 1
HHAT 99.98 1
HNRNPK 99.93 1
HOXA11 99.99 1
HOXA13 99.94 1
HOXD13 99.98 1
HPGD 99.98 1
HS2ST1 95.79 1
HSPG2 99.87 1
IDH1 99.91 1
IDH2 100.00 1
IDS 99.82 1
IDUA 99.99 1
IFIH1 99.84 1
IFITM5 100.00 1
IFT122 99.98 1
IFT140 100.00 1
IFT172 99.98 1
IFT43 99.97 1
IFT52 99.82 1
IFT80 99.69 1
IFT81 94.64 1
IHH 100.00 1
IKBKG 57.34 1
IL11RA 99.98 1
IL1RN 99.64 1
INPPL1 99.97 1
KAT6B 99.79 1
KDELR2 99.98 1
KIAA0753 100.00 1
KIAA1217 99.99 1
KIF22 99.89 1
KIF7 100.00 1
KMT2D 99.98 1
LBR 99.66 1
LEMD3 99.07 1
LFNG 100.00 1
LIFR 99.69 1
LMBR1 99.88 1
LMNA 99.96 1
LMX1B 100.00 1
LONP1 99.99 1
LPIN2 100.00 1
LRP5 99.95 1
LTBP2 99.97 1
MAFB 100.00 1
MAN2B1 99.99 1
MAN2C1 99.96 1
MAP3K7 99.33 1
MASP1 99.99 1
MATN3 99.97 1
MBTPS2 99.81 1
MEGF8 99.90 1
MEOX1 99.99 1
MESP2 99.99 1
MGP 99.95 1
MIA2 99.72 1
MIA3 99.84 1
MKKS 100.00 1
MKS1 99.92 1
MMP13 99.96 1
MMP2 99.96 1
MMP9 100.00 1
MNX1 99.83 1
MPDU1 99.97 1
MSX2 100.00 1
MTX2 99.20 1
MYCN 100.00 1
MYL11 99.85 1
NAGLU 100.00 1
NANS 100.00 1
NBAS 99.86 1
NEK1 99.83 1
NEU1 99.98 1
NF1 99.88 1
NFIX 99.99 1
NIPBL 99.34 1
NKX3-2 99.99 1
NLRP3 100.00 1
NOG 100.00 1
NOTCH1 99.98 1
NOTCH2 99.03 1
NPPC 100.00 1
NPRL2 99.99 1
NSD1 99.98 1
NSDHL 99.87 1
NXN 99.92 1
OBSL1 100.00 1
OFD1 99.68 1
ORC4 99.70 1
ORC6 99.82 1
OSTM1 99.56 1
P3H1 99.89 1
P4HB 99.99 1
PAM16 100.00 1
PAN2 99.95 1
PAPSS2 99.91 1
PAX3 100.00 1
PCNT 99.97 1
PCYT1A 100.00 1
PDE3A 99.97 1
PDE4D 99.89 1
PEX5 99.89 1
PEX7 99.72 1
PGM3 99.94 1
PHEX 99.83 1
PHGDH 99.79 1
PIGT 99.95 1
PIGV 100.00 1
PIK3C2A 99.92 1
PIK3CA 99.74 1
PISD 100.00 1
PITX1 100.00 1
PLEKHM1 99.77 1
PLOD2 99.66 1
PLS3 99.75 1
POC1A 99.98 1
POLR1A 99.93 1
POLR1C 100.00 1
POLR1D 100.00 1
PORCN 99.98 1
PPIB 100.00 1
PRKAR1A 100.00 1
PRKG2 99.75 1
PRMT7 99.95 1
PSAT1 99.98 1
PSPH 99.09 1
PTDSS1 99.95 1
PTH1R 99.93 1
PTHLH 99.89 1
PTPN11 99.98 1
PUF60 100.00 1
PYCR1 99.99 1
RAB23 99.97 1
RAB33B 100.00 1
RAD21 99.91 1
RASGRP2 100.00 1
RBM8A 99.37 1
RBPJ 99.96 1
RECQL4 100.00 1
RFT1 99.79 1
RIGI 99.84 1
RIN1 100.00 1
RNU4ATAC 99.95 1
ROR2 99.99 1
RPGRIP1L 96.35 1
RPL13 99.96 1
RUNX2 100.00 1
SALL1 100.00 1
SALL4 100.00 1
SBDS 99.93 1
SCARF2 99.94 1
SCUBE3 99.96 1
SEC24D 99.94 1
SERPINF1 100.00 1
SERPINH1 100.00 1
SETD2 99.91 1
SF3B4 99.65 1
SFRP4 99.99 1
SGSH 100.00 1
SH3BP2 100.00 1
SH3PXD2B 100.00 1
SHH 100.00 1
SHOX 92.70 1
SLC10A7 99.95 1
SLC17A5 99.71 1
SLC25A15 99.70 1
SLC26A2 100.00 1
SLC29A3 99.98 1
SLC34A1 99.99 1
SLC34A3 100.00 1
SLC35C1 100.00 1
SLC35D1 87.50 1
SLC39A13 99.98 1
SLCO2A1 99.99 1
SLCO5A1 99.98 1
SLURP1 99.99 1
SMAD3 99.99 1
SMAD4 99.97 1
SMARCAL1 99.97 1
SMC1A 99.98 1
SMC3 99.91 1
SMO 99.99 1
SMOC1 100.00 1
SNRPB 99.96 1
SNX10 99.96 1
SOST 100.00 1
SOX9 100.00 1
SP7 100.00 1
SPARC 99.94 1
SUCO 98.05 1
SULF1 99.99 1
SUMF1 99.95 1
TALDO1 100.00 1
TAPT1 99.64 1
TBCE 99.91 1
TBX15 99.81 1
TBX3 100.00 1
TBX4 99.96 1
TBX5 99.98 1
TBX6 99.99 1
TBXAS1 100.00 1
TCF12 99.97 1
TCIRG1 99.99 1
TCOF1 99.99 1
TCTN2 99.99 1
TCTN3 99.92 1
TENT5A 99.97 1
TERT 100.00 1
TGFB1 100.00 1
TGFB2 99.87 1
TGFBR1 99.94 1
TGFBR2 99.98 1
THPO 100.00 1
TMEM165 99.97 1
TMEM216 99.98 1
TMEM231 88.88 1
TMEM38B 99.95 1
TMEM67 99.69 1
TNFRSF11A 100.00 1
TNFRSF11B 100.00 1
TNFSF11 99.89 1
TONSL 100.00 1
TP63 99.97 1
TRAPPC2 99.41 1
TREM2 100.00 1
TRIP11 99.90 1
TRPS1 100.00 1
TRPV4 100.00 1
TRPV6 99.99 1
TTC21B 99.50 1
TTC8 99.67 1
TWIST1 100.00 1
TYROBP 99.95 1
VDR 99.86 1
VPS35L 99.07 1
WDPCP 99.87 1
WDR19 99.80 1
WDR35 99.92 1
WNT1 99.97 1
WNT10B 99.97 1
WNT3 99.99 1
WNT3A 100.00 1
WNT5A 100.00 1
WNT7A 99.99 1
XRCC4 99.89 1
XYLT1 99.98 1
XYLT2 99.97 1
ZMPSTE24 98.70 1
ZSWIM6 98.94 1