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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