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Table 1 Skeletal dysplasia virtual gene panel

From: Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys

ACAN ACP5 ACVR1 ADAMTS10 ADAMTS17 AFF4 AGA AGPS
AIFM1 ALPL AMER1 ANKH ANO5 ARCN1 ARSB ARSE
ARSL ASCC1 ASPM ATR B3GALT6 B3GAT3 B4GALT7 BGN
BMP1 BMP2 BMPER BMPR1B BPNT2 C2CD3 CA2 CANT1
CASR CCDC8 CCN6 CDC45 CDC6 CDKN1C CDT1 CENPJ
CEP120 CEP135 CEP152 CEP63 CFAP410 CHST14 CHST3 CHUK
CILK1 CLCN7 COG1 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2
COL27A1 COL2A1 COL9A1 COL9A2 COL9A3 COMP CREB3L1 CRTAP
CSF1R CSGALNACT1 CSPP1 CTSA CTSK CUL7 CWC27 DDR2
DDRGK1 DHCR24 DIP2C DLL3 DLX3 DMRT2 DNA2 DONSON
DVL1 DVL3 DYM DYNC2H1 DYNC2LI1 EBP EIF2AK3 ESCO2
EVC EVC2 EXOC6B EXOSC2 EXT1 EXT2 EXTL3 FAM20C
FAM46A FAR1 FBN1 FGF23 FGF9 FGFR1 FGFR2 FGFR3
FIG4 FKBP10 FLNA FLNB FN1 FTO FUCA1 FZD2
GALNS GALNT3 GDF5 GDF6 GHR GHRHR GHSR GJA1
GLB1 GMNN GNAS GNE GNPAT GNPTAB GNPTG GNS
GORAB GPC6 GPX4 GSC GUSB GZF1 HES7 HGSNAT
HPGD HSPG2 HYAL1 IARS2 ICK IDS IDUA IFITM5
IFT122 IFT140 IFT172 IFT43 IFT52 IFT57 IFT74 IFT80
IFT81 IGF1 IGF2 IHH IMPAD1 INPPL1 JAG1 KAT6B
KIAA0586 KIAA0753 KIF22 KL KMT2A LARP7 LBR LEMD3
LFNG LIFR LIG4 LMNA LMX1B LONP1 LOXL3 LRP4
LRP5 LRRK1 LTBP2 LTBP3 MAFB MAN2B1 MANBA MAP3K7
MATN3 MBTPS2 MCM5 MCPH1 MEOX1 MESP2 MGP MMP13
MMP14 MMP2 MMP9 MNX1 MSX2 MYH3 MYO18B NAGLU
NANS NBAS NEK1 NEU1 NKX3-2 NOG NOTCH2 NPPC
NPR2 NPR3 NSDHL NSMCE2 NXN OBSL1 OCRL ORC1
ORC4 ORC6 OSTM1 P3H1 P4HB PAM16 PAPSS2 PCGF2
PCNT PCYT1A PDE4D PEX5 PEX7 PGM3 PISD PKDCC
PLK4 PLOD2 PLS3 POC1A POLR1A POP1 POR PPIB
PPP3CA PRKAR1A PTDSS1 PTH1R PTHLH PTPN11 PYCR1 RAB33B
RBBP8 RECQL4 RIPPLY2 RMRP RNU4ATAC ROR2 RSPRY1 RTTN
RUNX2 SC5D SEC24D SERPINF1 SERPINH1 SETBP1 SFRP4 SGSH
SH3PXD2B SLC17A5 SLC26A2 SLC35D1 SLC39A13 SLCO2A1 SLCO5A1 SMAD4
SMARCAL1 SNRPB SNX10 SOX9 SP7 SPARC SQSTM1 SRCAP
SUCO SULF1 TAB2 TAPT1 TBCE TBX15 TBX3 TBX5
TBX6 TBXAS1 TCIRG1 TCTEX1D2 TCTN3 TGFB1 TMEM165 TMEM38B
TNFRSF11A TNFRSF11B TNFSF11 TRAPPC2 TREM2 TRIM37 TRIP11 TRMT10A
TRPS1 TRPV4 TTC21B TUBGCP6 TYROBP VAC14 VPS33A WDR19
WDR34 WDR35 WDR60 WISP3 WNT1 WNT3 WNT3A WNT5A
XRCC4 XYLT1 XYLT2 ZMPST