Panel 51 · Skeletal & Connective Tissue
Skeletal Dysplasia Panel
Skeletal dysplasias, growth-plate disorders and disproportionate short stature.
Gene content
All 567 gene symbols in source order
- ABCC9
- ABL1
- ACAN
- ACP5
- ACTB
- ACTG1
- ACVR1
- ACVR2B
- ADAMTS10
- ADAMTS17
- ADAMTSL2
- AFF3
- AGA
- AGPS
- AHI1
- AIFM1
- AKT1
- AKT2
- ALDH3A2
- ALG12
- ALG3
- ALG9
- ALMS1
- ALPL
- ALX1
- ALX3
- ALX4
- AMER1
- ANKH
- ANKRD11
- ANO5
- ANTXR2
- ARHGAP31
- ARID1A
- ARID1B
- ARL13B
- ARL6
- ARSB
- ARSE
- ASAH1
- ASXL1
- ATP6V0A2
- ATP7A
- ATR
- AXIN1
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT7
- B9D1
- B9D2
- BANF1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BGN
- BHLHA9
- BLM
- BMP1
- BMP2
- BMPER
- BMPR1B
- BRAF
- BRF1
- BTK
- CA2
- CANT1
- CASR
- CBFB
- CBL
- CC2D2A
- CCDC28B
- CCDC8
- CD96
- CDC6
- CDC73
- CDH3
- CDKN1C
- CDT1
- CENPJ
- CEP152
- CEP164
- CEP290
- CEP41
- CEP63
- CFTR
- CHD7
- CHST14
- CHST3
- CHSY1
- CLCN5
- CLCN7
- COG1
- COG4
- COL10A1
- COL11A1
- COL11A2
- COL1A1
- COL1A2
- COL2A1
- COL5A1
- COL9A1
- COL9A2
- COL9A3
- COLEC11
- COMP
- CREBBP
- CRTAP
- CSF1R
- CSGALNACT1
- CSPP1
- CTGF
- CTSA
- CTSC
- CTSK
- CUL7
- CYP26B1
- CYP27B1
- CYP2R1
- CYP3A4
- DCC
- DDR2
- DDRGK1
- DDX58
- DHCR24
- DHCR7
- DHODH
- DIS3L2
- DLL3
- DLL4
- DLX3
- DLX5
- DLX6
- DMP1
- DNMT3A
- DOCK6
- DPAGT1
- DPM1
- DPM2
- DPM3
- DSE
- DSPP
- DVL2
- DYM
- DYNC2H1
- DYNC2LI1
- EBP
- EDN1
- EDNRA
- EFNB1
- EFTUD2
- EIF2AK3
- ELN
- ENPP1
- EOGT
- EP300
- ERCC6
- ERCC8
- ESCO2
- ESR1
- EVC
- EVC2
- EXT1
- EXT2
- EXTL3
- EZH2
- FAM20C
- FANCA
- FANCB
- FANCC
- FANCG
- FBN1
- FBN2
- FBXW11
- FBXW4
- FERMT3
- FGD1
- FGF10
- FGF23
- FGF8
- FGF9
- FGFR1
- FGFR2
- FGFR3
- FIG4
- FKBP10
- FLNA
- FLNB
- FMN1
- FN1
- FOXC1
- FOXH1
- FREM1
- FUCA1
- FUZ
- GALNS
- GALNT3
- GBA
- GCM2
- GDF3
- GDF5
- GDF6
- GH1
- GHR
- GHRHR
- GHSR
- GJA1
- GLB1
- GLI2
- GLI3
- GLIS2
- GNAI3
- GNAS
- GNPAT
- GNPTAB
- GNPTG
- GNS
- GORAB
- GPC3
- GPC4
- GPC6
- GPX4
- GREM1
- GSC
- GUSB
- H2AFY
- HDAC4
- HDAC8
- HES7
- HESX1
- HGSNAT
- HNRNPK
- HOXA11
- HOXA13
- HOXD13
- HPGD
- HRAS
- HSPA9
- HSPG2
- HUWE1
- HYAL1
- HYLS1
- ICK
- IDS
- IDUA
- IFIH1
- IFITM5
- IFT122
- IFT140
- IFT172
- IFT43
- IFT80
- IFT88
- IGF1
- IGF1R
- IGF2
- IGFALS
- IHH
- IKBKG
- IL11RA
- IL1RN
- IL6ST
- IMPAD1
- INSR
- INVS
- IQCB1
- JAG1
- KANSL1
- KAT6A
- KAT6B
- KCNJ2
- KDM6A
- KIAA0586
- KIF11
- KIF22
- KIF7
- KL
- KMT2D
- KRAS
- KYNU
- LBR
- LEFTY2
- LEMD3
- LFNG
- LHX3
- LHX4
- LIFR
- LIG4
- LMBR1
- LMNA
- LMX1B
- LOXL3
- LPIN2
- LRP4
- LRP5
- LRP6
- LTBP1
- LTBP2
- LTBP3
- LZTR1
- MAFB
- MAN2B1
- MANBA
- MAP2K1
- MAP2K2
- MAPK1
- MASP1
- MATN3
- MBTPS2
- MCM5
- MECOM
- MEGF8
- MESD
- MESP2
- MET
- MGP
- MID1
- MKKS
- MKS1
- MMP13
- MMP14
- MMP2
- MMP9
- MNX1
- MPDU1
- MSX2
- MTAP
- MYCN
- MYH3
- NAGLU
- NBAS
- NBN
- NEK1
- NEK8
- NEU1
- NF1
- NF2
- NFIA
- NFIX
- NIN
- NIPBL
- NKX2-5
- NKX3-2
- NLRP3
- NMNAT1
- NOG
- NOTCH1
- NOTCH2
- NPPC
- NPR2
- NRAS
- NRCAM
- NSD1
- NSDHL
- NSUN2
- NT5E
- OBSL1
- OFD1
- ORC1
- ORC4
- ORC6
- OSTM1
- OTX2
- P3H1
- PAPSS2
- PAX3
- PCNT
- PCYT1A
- PDE4D
- PDGFRB
- PEX5
- PEX7
- PHEX
- PHF6
- PHGDH
- PIGT
- PIGV
- PIK3CA
- PIK3R1
- PITX1
- PLCB4
- PLK4
- PLOD1
- PLOD2
- POC1A
- POLR1C
- POLR1D
- POLR3A
- POLR3B
- POP1
- POR
- PORCN
- POU1F1
- PPIB
- PPP1CB
- PPP3CA
- PRKACA
- PRKAR1A
- PRKG2
- PRMT7
- PROP1
- PRRX1
- PSAT1
- PSPH
- PTCH1
- PTH1R
- PTHLH
- PTPN11
- PUF60
- PYCR1
- RAB23
- RAB3GAP2
- RAD21
- RAF1
- RASA1
- RBBP8
- RBPJ
- RECQL4
- RFT1
- RIT1
- ROR2
- RPGRIP1L
- RPS6KA3
- RRAS
- RRAS2
- RTTN
- RUNX2
- SALL1
- SALL4
- SBDS
- SCARF2
- SDCCAG8
- SEC23A
- SEM1
- SERPINF1
- SERPINH1
- SETD2
- SETD5
- SF3B4
- SGSH
- SH3BP2
- SH3PXD2B
- SHH
- SHOC2
- SHOX
- SIK3
- SIX2
- SKI
- SLC17A5
- SLC26A2
- SLC29A3
- SLC34A1
- SLC34A3
- SLC35C1
- SLC35D1
- SLC39A13
- SLCO2A1
- SLCO5A1
- SMAD2
- SMAD3
- SMAD4
- SMAD6
- SMARCA2
- SMARCA4
- SMARCAL1
- SMARCB1
- SMARCE1
- SMC1A
- SMC3
- SMCHD1
- SMO
- SMOC1
- SMS
- SNX10
- SOS1
- SOS2
- SOST
- SOX2
- SOX3
- SOX6
- SOX9
- SP7
- SPECC1L
- SPRED1
- SPRED2
- SQSTM1
- SRCAP
- STAT3
- STAT5B
- STT3A
- SULF1
- SUMF1
- SUZ12
- TAB2
- TALDO1
- TBC1D24
- TBCE
- TBX15
- TBX2
- TBX3
- TBX4
- TBX5
- TBX6
- TBXAS1
- TCIRG1
- TCOF1
- TCTN1
- TCTN2
- TCTN3
- TERT
- TFAP2B
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TMCO1
- TMEM138
- TMEM165
- TMEM216
- TMEM231
- TMEM237
- TMEM67
- TNFRSF11A
- TNFRSF11B
- TNFSF11
- TNXB
- TP53
- TP63
- TREM2
- TRIM32
- TRIM37
- TRIP11
- TRPS1
- TRPV4
- TRPV6
- TSC1
- TSC2
- TTC21B
- TTC8
- TWIST1
- TYROBP
- USP9X
- VCP
- VDR
- WDPCP
- WDR19
- WDR35
- WISP3
- WNT1
- WNT10B
- WNT3
- WNT5A
- WNT7A
- WRN
- XRCC4
- XYLT1
- XYLT2
- YY1
- ZEB2
- ZIC3
- ZMPSTE24
Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.