Belgian Genetic Tests database
Skeletal dysplasia (394 genes) - VUB
| Full name: |
Skeletal dysplasia (394 genes) - VUB
|
| Abbreviation: |
SDGP
|
| Description: |
https://www.brightcore.be/gene-panels/mendeliome---skeletal-dysplasia-(skd)---v11
|
| Type of panel: | |
| Provider: |
home made
|
| Version number: |
V11
|
| Laboratory: | |
| Created: |
17 Jul 2019 - 10:21
|
| Changed: |
31 Aug 2022 - 16:18
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ABCC9 | 100.00 | 0 | No comment |
| ABL1 | 100.00 | 0 | No comment |
| ACAN | 98.89 | 0 | No comment |
| ACP4 | 100.00 | 0 | No comment |
| ACP5 | 100.00 | 0 | No comment |
| ACVR1 | 100.00 | 0 | No comment |
| ADAMTS10 | 99.88 | 0 | No comment |
| ADAMTS17 | 89.95 | 0 | No comment |
| ADAMTSL2 | 100.00 | 0 | No comment |
| AFF4 | 100.00 | 0 | No comment |
| AGA | 100.00 | 0 | No comment |
| AGPS | 100.00 | 0 | No comment |
| AHDC1 | 100.00 | 0 | No comment |
| AKT1 | 100.00 | 0 | No comment |
| ALPL | 100.00 | 0 | No comment |
| ALX1 | 100.00 | 0 | No comment |
| ALX3 | 91.36 | 0 | No comment |
| ALX4 | 99.70 | 0 | No comment |
| AMER1 | 100.00 | 0 | No comment |
| ANKH | 100.00 | 0 | No comment |
| ANO5 | 100.00 | 0 | No comment |
| ANTXR2 | 100.00 | 0 | No comment |
| APC | 100.00 | 0 | No comment |
| ARCN1 | 100.00 | 0 | No comment |
| ARHGAP31 | 100.00 | 0 | No comment |
| ARID1A | 94.64 | 0 | No comment |
| ARID1B | 92.99 | 0 | No comment |
| ARSL | 100.00 | 0 | No comment |
| ASCC1 | 91.27 | 0 | No comment |
| ASXL2 | 100.00 | 0 | No comment |
| ATP6V0A2 | 100.00 | 0 | No comment |
| B3GALT6 | 56.12 | 0 | No comment |
| B3GAT3 | 95.56 | 0 | No comment |
| B4GALT7 | 93.23 | 0 | No comment |
| BGN | 100.00 | 0 | No comment |
| BHLHA9 | 38.48 | 0 | No comment |
| BMP1 | 99.86 | 0 | No comment |
| BMP2 | 100.00 | 0 | No comment |
| BMPER | 100.00 | 0 | No comment |
| BMPR1B | 100.00 | 0 | No comment |
| BPNT2 | 98.65 | 0 | No comment |
| BRIP1 | 100.00 | 0 | No comment |
| BVES | 100.00 | 0 | No comment |
| C1R | 100.00 | 0 | No comment |
| C1S | 100.00 | 0 | No comment |
| C2CD3 | 100.00 | 0 | No comment |
| CA2 | 100.00 | 0 | No comment |
| CANT1 | 100.00 | 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 | 84.41 | 0 | No comment |
| CD96 | 100.00 | 0 | No comment |
| CDC45 | 100.00 | 0 | No comment |
| CDC6 | 100.00 | 0 | No comment |
| CDH3 | 100.00 | 0 | No comment |
| CDKN1C | 62.25 | 0 | No comment |
| CDT1 | 87.95 | 0 | No comment |
| CEP120 | 100.00 | 0 | No comment |
| CEP290 | 99.99 | 0 | No comment |
| CHD7 | 100.00 | 0 | No comment |
| CHST14 | 98.57 | 0 | No comment |
| CHST3 | 100.00 | 0 | No comment |
| CHSY1 | 91.67 | 0 | No comment |
| CILK1 | 100.00 | 0 | No comment |
| CKAP2L | 100.00 | 0 | No comment |
| CLCN5 | 100.00 | 0 | No comment |
| CLCN7 | 94.99 | 0 | No comment |
| COG1 | 99.24 | 0 | No comment |
| COL10A1 | 100.00 | 0 | No comment |
| COL11A1 | 100.00 | 0 | No comment |
| COL11A2 | 99.14 | 0 | No comment |
| COL1A1 | 100.00 | 0 | No comment |
| COL1A2 | 99.93 | 0 | No comment |
| COL2A1 | 100.00 | 0 | No comment |
| COL9A1 | 100.00 | 0 | No comment |
| COL9A2 | 100.00 | 0 | No comment |
| COL9A3 | 96.41 | 0 | No comment |
| COMP | 99.90 | 0 | No comment |
| CORIN | 98.90 | 0 | No comment |
| CPLANE1 | 100.00 | 0 | No comment |
| CREB3L1 | 100.00 | 0 | No comment |
| CREBBP | 100.00 | 0 | No comment |
| CRTAP | 89.72 | 0 | No comment |
| CSPP1 | 100.00 | 0 | No comment |
| CTSA | 100.00 | 0 | No comment |
| CTSK | 100.00 | 0 | No comment |
| CUL7 | 99.99 | 0 | No comment |
| CYP26B1 | 100.00 | 0 | No comment |
| DDR2 | 100.00 | 0 | No comment |
| DDX59 | 100.00 | 0 | No comment |
| DHCR24 | 99.96 | 0 | No comment |
| DHODH | 100.00 | 0 | No comment |
| DLL3 | 78.42 | 0 | No comment |
| DLX3 | 100.00 | 0 | No comment |
| DLX5 | 100.00 | 0 | No comment |
| DLX6 | 99.69 | 0 | No comment |
| DMP1 | 100.00 | 0 | No comment |
| DOCK6 | 99.12 | 0 | No comment |
| DVL1 | 100.00 | 0 | No comment |
| DVL3 | 100.00 | 0 | No comment |
| DYM | 100.00 | 0 | No comment |
| DYNC2H1 | 100.00 | 0 | No comment |
| DYNC2I2 | 93.01 | 0 | No comment |
| DYNC2LI1 | 100.00 | 0 | No comment |
| EDNRA | 100.00 | 0 | No comment |
| EFNA4 | 100.00 | 0 | No comment |
| EFNB1 | 100.00 | 0 | No comment |
| EFTUD2 | 100.00 | 0 | No comment |
| EIF2AK3 | 95.52 | 0 | No comment |
| EIF4A3 | 100.00 | 0 | No comment |
| ELMO2 | 100.00 | 0 | No comment |
| ENPP1 | 96.48 | 0 | No comment |
| EOGT | 100.00 | 0 | No comment |
| EP300 | 100.00 | 0 | No comment |
| ERCC4 | 100.00 | 0 | No comment |
| ERF | 100.00 | 0 | No comment |
| ESCO2 | 100.00 | 0 | No comment |
| EVC | 94.45 | 0 | No comment |
| EVC2 | 99.55 | 0 | No comment |
| EXT1 | 100.00 | 0 | No comment |
| EXT2 | 100.00 | 0 | No comment |
| EZH2 | 100.00 | 0 | No comment |
| FAM111A | 100.00 | 0 | No comment |
| FAM20C | 92.71 | 0 | No comment |
| FANCA | 99.70 | 0 | No comment |
| FANCB | 100.00 | 0 | No comment |
| FANCC | 100.00 | 0 | No comment |
| FANCD2 | 100.00 | 0 | No comment |
| FANCE | 91.17 | 0 | No comment |
| FANCF | 100.00 | 0 | No comment |
| FANCG | 100.00 | 0 | No comment |
| FANCI | 100.00 | 0 | No comment |
| FANCL | 100.00 | 0 | No comment |
| FBLN1 | 95.59 | 0 | No comment |
| FBN1 | 100.00 | 0 | No comment |
| FBN2 | 100.00 | 0 | No comment |
| FBXW4 | 92.44 | 0 | No comment |
| FERMT3 | 100.00 | 0 | No comment |
| FGF10 | 100.00 | 0 | No comment |
| FGF16 | 100.00 | 0 | No comment |
| FGF23 | 100.00 | 0 | No comment |
| FGF3 | 80.02 | 0 | No comment |
| FGF4 | 70.06 | 0 | No comment |
| FGF8 | 94.82 | 0 | No comment |
| FGF9 | 100.00 | 0 | No comment |
| FGFR1 | 100.00 | 0 | No comment |
| FGFR2 | 100.00 | 0 | No comment |
| FGFR3 | 99.26 | 0 | No comment |
| FIG4 | 100.00 | 0 | No comment |
| FKBP10 | 100.00 | 0 | No comment |
| FLNA | 100.00 | 0 | No comment |
| FLNB | 100.00 | 0 | No comment |
| FMN1 | 100.00 | 0 | No comment |
| FN1 | 100.00 | 0 | No comment |
| FREM1 | 100.00 | 0 | No comment |
| FUCA1 | 100.00 | 0 | No comment |
| FZD2 | 98.72 | 0 | No comment |
| GALNS | 96.18 | 0 | No comment |
| GALNT3 | 100.00 | 0 | No comment |
| GDF3 | 100.00 | 0 | No comment |
| GDF5 | 100.00 | 0 | No comment |
| GDF6 | 93.56 | 0 | No comment |
| GJA1 | 100.00 | 0 | No comment |
| GLB1 | 100.00 | 0 | No comment |
| GLI3 | 100.00 | 0 | No comment |
| GNAS | 98.96 | 0 | No comment |
| GNPAT | 100.00 | 0 | No comment |
| GNPTAB | 100.00 | 0 | No comment |
| GNPTG | 94.69 | 0 | No comment |
| GNS | 100.00 | 0 | No comment |
| GORAB | 100.00 | 0 | No comment |
| GPC3 | 100.00 | 0 | No comment |
| GPC6 | 100.00 | 0 | No comment |
| GPR68 | 100.00 | 0 | No comment |
| GPX4 | 87.15 | 0 | No comment |
| GREM1 | 100.00 | 0 | No comment |
| GUSB | 100.00 | 0 | No comment |
| HDAC4 | 100.00 | 0 | No comment |
| HDAC8 | 100.00 | 0 | No comment |
| HES7 | 99.67 | 0 | No comment |
| HHAT | 90.28 | 0 | No comment |
| HOXA11 | 99.40 | 0 | No comment |
| HOXA13 | 73.35 | 0 | No comment |
| HOXD13 | 80.52 | 0 | No comment |
| HPGD | 99.99 | 0 | No comment |
| HSPG2 | 99.43 | 0 | No comment |
| HUWE1 | 100.00 | 0 | No comment |
| IDH1 | 100.00 | 0 | No comment |
| IDH2 | 92.01 | 0 | No comment |
| IDS | 100.00 | 0 | No comment |
| IFITM5 | 100.00 | 0 | No comment |
| IFT122 | 100.00 | 0 | No comment |
| IFT140 | 100.00 | 0 | No comment |
| IFT172 | 100.00 | 0 | No comment |
| IFT43 | 100.00 | 0 | No comment |
| IFT80 | 100.00 | 0 | No comment |
| IGF1R | 100.00 | 0 | No comment |
| IHH | 99.88 | 0 | No comment |
| IKBKG | 99.74 | 0 | No comment |
| IL11RA | 100.00 | 0 | No comment |
| IL1RN | 100.00 | 0 | No comment |
| INPPL1 | 96.74 | 0 | No comment |
| JAG1 | 99.66 | 0 | No comment |
| KAT6B | 100.00 | 0 | No comment |
| KIF22 | 100.00 | 0 | No comment |
| KIF7 | 96.94 | 0 | No comment |
| KRAS | 100.00 | 0 | No comment |
| LBR | 100.00 | 0 | No comment |
| LEMD3 | 100.00 | 0 | No comment |
| LFNG | 82.55 | 0 | No comment |
| LIFR | 100.00 | 0 | No comment |
| LMBR1 | 100.00 | 0 | No comment |
| LMNA | 99.93 | 0 | No comment |
| LMX1B | 99.99 | 0 | No comment |
| LONP1 | 99.83 | 0 | No comment |
| LPIN2 | 100.00 | 0 | No comment |
| LRIT3 | 100.00 | 0 | No comment |
| LRP5 | 97.87 | 0 | No comment |
| LTBP2 | 100.00 | 0 | No comment |
| LTBP3 | 96.02 | 0 | No comment |
| MAB21L2 | 100.00 | 0 | No comment |
| MAFB | 99.89 | 0 | No comment |
| MAN2B1 | 100.00 | 0 | No comment |
| MAN2C1 | 100.00 | 0 | No comment |
| MAP3K7 | 100.00 | 0 | No comment |
| MATN3 | 86.25 | 0 | No comment |
| MEGF8 | 99.99 | 0 | No comment |
| MEOX1 | 100.00 | 0 | No comment |
| MESP2 | 100.00 | 0 | No comment |
| MGP | 100.00 | 0 | No comment |
| MITF | 100.00 | 0 | No comment |
| MKS1 | 100.00 | 0 | No comment |
| MMP13 | 100.00 | 0 | No comment |
| MMP2 | 100.00 | 0 | No comment |
| MMP9 | 100.00 | 0 | No comment |
| MNX1 | 71.50 | 0 | No comment |
| MSX2 | 100.00 | 0 | No comment |
| MYCN | 86.70 | 0 | No comment |
| MYT1 | 100.00 | 0 | No comment |
| NAGLU | 87.38 | 0 | No comment |
| NEK1 | 100.00 | 0 | No comment |
| NEU1 | 100.00 | 0 | No comment |
| NF1 | 99.95 | 0 | No comment |
| NFIX | 97.15 | 0 | No comment |
| NIPBL | 99.98 | 0 | No comment |
| NKX3-2 | 96.89 | 0 | No comment |
| NLRP3 | 100.00 | 0 | No comment |
| NOG | 100.00 | 0 | No comment |
| NOTCH2 | 99.76 | 0 | No comment |
| NPRL2 | 100.00 | 0 | No comment |
| NSD1 | 100.00 | 0 | No comment |
| NSDHL | 100.00 | 0 | No comment |
| NTRK2 | 100.00 | 0 | No comment |
| OBSL1 | 98.31 | 0 | No comment |
| OFD1 | 99.88 | 0 | No comment |
| ORC4 | 100.00 | 0 | No comment |
| ORC6 | 100.00 | 0 | No comment |
| OSTM1 | 99.55 | 0 | No comment |
| P3H1 | 99.77 | 0 | No comment |
| P4HB | 99.90 | 0 | No comment |
| PALB2 | 100.00 | 0 | No comment |
| PAM16 | 96.78 | 0 | No comment |
| PANK2 | 98.60 | 0 | No comment |
| PAPSS2 | 100.00 | 0 | No comment |
| PCNT | 100.00 | 0 | No comment |
| PCYT1A | 100.00 | 0 | No comment |
| PDE3A | 100.00 | 0 | No comment |
| PDE4D | 98.77 | 0 | No comment |
| PEX7 | 91.13 | 0 | No comment |
| PGM3 | 99.99 | 0 | No comment |
| PHEX | 100.00 | 0 | No comment |
| PIGV | 100.00 | 0 | No comment |
| PIK3CA | 100.00 | 0 | No comment |
| PITX1 | 98.27 | 0 | No comment |
| PLEKHM1 | 100.00 | 0 | No comment |
| PLOD2 | 100.00 | 0 | No comment |
| PLS3 | 100.00 | 0 | No comment |
| POLR1A | 100.00 | 0 | No comment |
| POLR1C | 100.00 | 0 | No comment |
| POLR1D | 100.00 | 0 | No comment |
| PORCN | 100.00 | 0 | No comment |
| PPIB | 100.00 | 0 | No comment |
| PRKAR1A | 100.00 | 0 | No comment |
| PROK2 | 98.51 | 0 | No comment |
| PTDSS1 | 100.00 | 0 | No comment |
| PTH1R | 99.01 | 0 | No comment |
| PTHLH | 100.00 | 0 | No comment |
| PTPN11 | 98.80 | 0 | No comment |
| PYCR1 | 100.00 | 0 | No comment |
| RAB23 | 100.00 | 0 | No comment |
| RAB33B | 100.00 | 0 | No comment |
| RAD21 | 100.00 | 0 | No comment |
| RAD51C | 100.00 | 0 | No comment |
| RASGRP2 | 100.00 | 0 | No comment |
| RBM8A | 100.00 | 0 | No comment |
| RBPJ | 100.00 | 0 | No comment |
| RECQL4 | 96.37 | 0 | No comment |
| RIGI | 100.00 | 0 | No comment |
| RMRP | 100.00 | 0 | No comment |
| RNU4ATAC | 100.00 | 0 | No comment |
| ROR2 | 98.67 | 0 | No comment |
| RPGRIP1L | 96.45 | 0 | No comment |
| RSPO2 | 100.00 | 0 | No comment |
| RSPRY1 | 100.00 | 0 | No comment |
| RUNX2 | 98.51 | 0 | No comment |
| SALL1 | 100.00 | 0 | No comment |
| SALL4 | 100.00 | 0 | No comment |
| SBDS | 100.00 | 0 | No comment |
| SEC24D | 100.00 | 0 | No comment |
| SERPINF1 | 100.00 | 0 | No comment |
| SERPINH1 | 100.00 | 0 | No comment |
| SETD2 | 100.00 | 0 | No comment |
| SF3B4 | 100.00 | 0 | No comment |
| SH3BP2 | 91.63 | 0 | No comment |
| SH3PXD2B | 99.68 | 0 | No comment |
| SHOX | 90.47 | 0 | No comment |
| SLC17A5 | 100.00 | 0 | No comment |
| SLC25A15 | 100.00 | 0 | No comment |
| SLC26A2 | 99.96 | 0 | No comment |
| SLC29A3 | 98.83 | 0 | No comment |
| SLC34A3 | 100.00 | 0 | No comment |
| SLC35D1 | 99.99 | 0 | No comment |
| SLC39A13 | 100.00 | 0 | No comment |
| SLCO5A1 | 100.00 | 0 | No comment |
| SLURP1 | 85.73 | 0 | No comment |
| SLX4 | 100.00 | 0 | No comment |
| SMAD3 | 100.00 | 0 | No comment |
| SMAD4 | 100.00 | 0 | No comment |
| SMARCA2 | 98.07 | 0 | No comment |
| SMARCA4 | 100.00 | 0 | No comment |
| SMARCAL1 | 100.00 | 0 | No comment |
| SMARCB1 | 100.00 | 0 | No comment |
| SMC1A | 100.00 | 0 | No comment |
| SMC3 | 100.00 | 0 | No comment |
| SMO | 94.17 | 0 | No comment |
| SNRPB | 100.00 | 0 | No comment |
| SNX10 | 100.00 | 0 | No comment |
| SOST | 99.39 | 0 | No comment |
| SOX6 | 100.00 | 0 | No comment |
| SOX9 | 97.88 | 0 | No comment |
| SP7 | 100.00 | 0 | No comment |
| STAT3 | 100.00 | 0 | No comment |
| SULF1 | 100.00 | 0 | No comment |
| SUMF1 | 100.00 | 0 | No comment |
| TBCE | 100.00 | 0 | No comment |
| TBX15 | 100.00 | 0 | No comment |
| TBX3 | 99.88 | 0 | No comment |
| TBX4 | 94.32 | 0 | No comment |
| TBX5 | 100.00 | 0 | No comment |
| TBX6 | 100.00 | 0 | No comment |
| TBXAS1 | 100.00 | 0 | No comment |
| TCF12 | 100.00 | 0 | No comment |
| TCIRG1 | 100.00 | 0 | No comment |
| TCOF1 | 99.99 | 0 | No comment |
| TCTN3 | 100.00 | 0 | No comment |
| TGDS | 100.00 | 0 | No comment |
| TGFB1 | 99.97 | 0 | No comment |
| TGFB2 | 100.00 | 0 | No comment |
| TGFBR1 | 92.91 | 0 | No comment |
| TGFBR2 | 100.00 | 0 | No comment |
| THPO | 100.00 | 0 | No comment |
| TMCO1 | 100.00 | 0 | No comment |
| TMEM216 | 100.00 | 0 | No comment |
| TMEM38B | 100.00 | 0 | No comment |
| TMEM67 | 100.00 | 0 | No comment |
| TNFRSF11B | 100.00 | 0 | No comment |
| TP63 | 100.00 | 0 | No comment |
| TRAPPC2 | 95.31 | 0 | No comment |
| TREM2 | 100.00 | 0 | No comment |
| TRIP11 | 100.00 | 0 | No comment |
| TRIP4 | 100.00 | 0 | No comment |
| TRPS1 | 100.00 | 0 | No comment |
| TRPV4 | 100.00 | 0 | No comment |
| TTC21B | 100.00 | 0 | No comment |
| TWIST1 | 70.93 | 0 | No comment |
| TYROBP | 100.00 | 0 | No comment |
| UBE2T | 100.00 | 0 | No comment |
| WDR19 | 100.00 | 0 | No comment |
| WDR35 | 100.00 | 0 | No comment |
| WNT1 | 98.70 | 0 | No comment |
| WNT10B | 98.99 | 0 | No comment |
| WNT3 | 100.00 | 0 | No comment |
| WNT5A | 99.97 | 0 | No comment |
| WNT6 | 96.35 | 0 | No comment |
| WNT7A | 100.00 | 0 | No comment |
| XYLT1 | 88.83 | 0 | No comment |
| XYLT2 | 98.70 | 0 | No comment |
| ZEB2 | 100.00 | 0 | No comment |
| ZIC1 | 100.00 | 0 | No comment |
| ZMPSTE24 | 100.00 | 0 | No comment |
| ZSWIM6 | 88.87 | 0 | No comment |