| Panel name | NGS Skeletal Dysplasia |
|---|---|
| Panel method | WES-based NGS |
| Panel version ** | AUMC_Skeletdysplasie_v2 |
| Panel quality *** | C |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location AMC |
| Genes (536) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ABCC9 | C | 99.98 | 100.00 | NM_001377273.1 | |
| ACAN | C | 86.59 | 86.74 | NM_001369268.1 | |
| ACP5 | C | 100.00 | 100.00 | NM_001611.5 | |
| ACTB | C | 100.00 | 100.00 | NM_001101.5 | |
| ACVR1 | C | 100.00 | 100.00 | NM_001111067.4 | |
| ADAMTS10 | C | 100.00 | 100.00 | NM_030957.4 | |
| ADAMTS17 | C | 99.98 | 100.00 | NM_139057.4 | |
| ADAMTSL2 | C | 100.00 | 100.00 | NM_014694.4 | |
| AGA | C | 100.00 | 100.00 | NM_000027.4 | |
| AGPS | C | 100.00 | 100.00 | NM_003659.4 | |
| AIFM1 | C | 100.00 | 100.00 | NM_004208.4 | |
| ALG12 | C | 100.00 | 100.00 | NM_024105.4 | |
| ALG3 | C | 100.00 | 100.00 | NM_005787.6 | |
| ALG9 | C | 99.97 | 100.00 | NM_024740.2 | |
| ALMS1 | C | 100.00 | 100.00 | NM_001378454.1 | |
| ALPL | C | 99.97 | 100.00 | NM_000478.6 | |
| ALX1 | C | 100.00 | 100.00 | NM_006982.3 | |
| ALX3 | C | 99.85 | 100.00 | NM_006492.3 | |
| ALX4 | C | 100.00 | 100.00 | NM_021926.4 | |
| AMER1 | C | 100.00 | 100.00 | NM_152424.4 | |
| AMMECR1 | C | 100.00 | 100.00 | NM_015365.3 | |
| ANKH | C | 100.00 | 100.00 | NM_054027.6 | |
| ANKRD11 | C | 99.67 | 99.94 | NM_013275.6 | |
| ANO5 | C | 100.00 | 100.00 | NM_213599.3 | |
| ANTXR2 | C | 100.00 | 100.00 | NM_058172.6 | |
| APC2 | C | 99.91 | 99.99 | NM_005883.3 | |
| ARCN1 | C | 99.99 | 100.00 | NM_001655.5 | |
| ARHGAP31 | C | 100.00 | 100.00 | NM_020754.4 | |
| ARID1B | C | 96.96 | 97.78 | NM_001374828.1 | |
| ARSB | C | 100.00 | 100.00 | NM_000046.5 | |
| ARSL | C | 100.00 | 100.00 | NM_000047.3 | |
| ATP6V0A2 | C | 100.00 | 100.00 | NM_012463.4 | |
| ATR | C | 99.99 | 100.00 | NM_001184.4 | |
| B3GALT6 | C | 94.88 | 97.94 | NM_080605.4 | |
| B3GAT3 | C | 100.00 | 100.00 | NM_012200.4 | |
| B4GALT7 | C | 99.99 | 100.00 | NM_007255.3 | |
| BGN | C | 100.00 | 100.00 | NM_001711.6 | |
| BHLHA9 | C | 99.76 | 99.93 | NM_001164405.2 | |
| BMP1 | C | 100.00 | 100.00 | NM_006129.5 | |
| BMP2 | C | 100.00 | 100.00 | NM_001200.4 | |
| BMPER | C | 100.00 | 100.00 | NM_001365308.1 | |
| BMPR1B | C | 100.00 | 100.00 | NM_001203.3 | |
| BPNT2 | C | 100.00 | 100.00 | NM_017813.5 | |
| BRAF | C | 99.98 | 100.00 | NM_004333.6 | |
| BRF1 | C | 100.00 | 100.00 | NM_001519.4 | |
| BTK | C | 99.96 | 100.00 | NM_000061.3 | |
| BTRC | C | 100.00 | 100.00 | NM_033637.4 | |
| CA2 | C | 100.00 | 100.00 | NM_000067.3 | |
| CANT1 | C | 100.00 | 100.00 | NM_001159773.2 | |
| CASR | C | 100.00 | 100.00 | NM_000388.4 | |
| CBL | C | 100.00 | 100.00 | NM_005188.4 | |
| CC2D2A | C | 100.00 | 100.00 | NM_001378615.1 | |
| CCDC134 | C | 100.00 | 100.00 | NM_024821.5 | |
| CCDC8 | C | 100.00 | 100.00 | NM_032040.5 | |
| CCN6 | C | 100.00 | 100.00 | NM_198239.2 | |
| CCNQ | C | 99.51 | 99.98 | NM_152274.5 | |
| CDC42 | C | 99.99 | 100.00 | NM_001791.4 | |
| CDC45 | C | 100.00 | 100.00 | NM_003504.5 | |
| CDC6 | C | 100.00 | 100.00 | NM_001254.4 | |
| CDC73 | C | 100.00 | 100.00 | NM_024529.5 | |
| CDKN1C | C | 94.92 | 98.33 | NM_001122630.2 | |
| CDT1 | C | 99.99 | 100.00 | NM_030928.4 | |
| CENPE | C | 99.96 | 99.99 | NM_001813.3 | |
| CEP120 | C | 99.99 | 100.00 | NM_001375405.1 | |
| CEP152 | C | 99.99 | 100.00 | NM_001194998.2 | |
| CEP290 | C | 99.97 | 100.00 | NM_025114.4 | |
| CFAP410 | C | 100.00 | 100.00 | NM_004928.3 | |
| CHST11 | C | 100.00 | 100.00 | NM_018413.6 | |
| CHST14 | C | 100.00 | 100.00 | NM_130468.4 | |
| CHST3 | C | 100.00 | 100.00 | NM_004273.5 | |
| CHSY1 | C | 98.96 | 99.47 | NM_014918.5 | |
| CILK1 | C | 100.00 | 100.00 | NM_014920.5 | |
| CKAP2L | C | 99.99 | 100.00 | NM_152515.5 | |
| CLCN5 | C | 100.00 | 100.00 | NM_001127898.4 | |
| CLCN7 | C | 100.00 | 100.00 | NM_001287.6 | |
| COG1 | C | 100.00 | 100.00 | NM_018714.3 | |
| COG4 | C | 100.00 | 100.00 | NM_015386.3 | |
| COL10A1 | C | 100.00 | 100.00 | NM_000493.4 | |
| COL11A1 | C | 95.66 | 98.3 | NM_001854.4 | |
| COL11A2 | C | 99.99 | 100.00 | NM_080680.3 | |
| COL1A1 | C | 99.93 | 99.99 | NM_000088.3 | |
| COL1A2 | C | 99.94 | 99.99 | NM_000089.4 | |
| COL27A1 | C | 99.88 | 99.99 | NM_032888.4 | |
| COL2A1 | C | 99.96 | 100.00 | NM_001844.5 | |
| COL9A1 | C | 99.95 | 100.00 | NM_001851.6 | |
| COL9A2 | C | 97.53 | 99.61 | NM_001852.4 | |
| COL9A3 | C | 99.97 | 100.00 | NM_001853.4 | |
| COLEC11 | C | 100.00 | 100.00 | NM_024027.5 | |
| COMP | C | 100.00 | 100.00 | NM_000095.3 | |
| CPLANE1 | C | 99.97 | 99.99 | NM_001384732.1 | |
| CREB3L1 | C | 99.93 | 100.00 | NM_052854.4 | |
| CREBBP | C | 100.00 | 100.00 | NM_004380.3 | |
| CRIPT | C | 100.00 | 100.00 | NM_014171.6 | |
| CRTAP | C | 100.00 | 100.00 | NM_006371.5 | |
| CSF1R | C | 100.00 | 100.00 | NM_001288705.3 | |
| CSGALNACT1 | C | 100.00 | 100.00 | NM_001354483.2 | |
| CTSA | C | 100.00 | 100.00 | NM_000308.4 | |
| CTSK | C | 99.99 | 100.00 | NM_000396.4 | |
| CUL7 | C | 100.00 | 100.00 | NM_014780.5 | |
| CYP26B1 | C | 100.00 | 100.00 | NM_019885.4 | |
| CYP27B1 | C | 99.9 | 100.00 | NM_000785.4 | |
| CYP2R1 | C | 100.00 | 100.00 | NM_024514.5 | |
| DDR2 | C | 99.97 | 100.00 | NM_006182.4 | |
| DDRGK1 | C | 100.00 | 100.00 | NM_023935.3 | |
| DHCR24 | C | 100.00 | 100.00 | NM_014762.4 | |
| DHODH | C | 100.00 | 100.00 | NM_001361.5 | |
| DLL3 | C | 100.00 | 100.00 | NM_203486.3 | |
| DLL4 | C | 100.00 | 100.00 | NM_019074.4 | |
| DLX3 | C | 99.89 | 100.00 | NM_005220.3 | |
| DLX5 | C | 99.99 | 100.00 | NM_005221.6 | |
| DLX6 | C | 99.79 | 100.00 | NM_005222.4 | |
| DMP1 | C | 100.00 | 100.00 | NM_004407.4 | |
| DNA2 | C | 100.00 | 100.00 | NM_001080449.3 | |
| DNAJC21 | C | 99.97 | 99.98 | NM_001012339.3 | |
| DNMT3A | C | 100.00 | 100.00 | NM_022552.5 | |
| DOCK6 | C | 100.00 | 100.00 | NM_020812.4 | |
| DONSON | C | 99.81 | 99.97 | NM_017613.4 | |
| DPCD | C | 100.00 | 100.00 | NM_015448.3 | |
| DPM1 | C | 100.00 | 100.00 | NM_003859.3 | |
| DSE | C | 100.00 | 100.00 | NM_013352.4 | |
| DVL1 | C | 100.00 | 100.00 | NM_001330311.2 | |
| DVL3 | C | 100.00 | 100.00 | NM_004423.4 | |
| DYM | C | 100.00 | 100.00 | NM_001353214.3 | |
| DYNC2H1 | C | 99.99 | 99.99 | NM_001377.3 | |
| DYNC2I1 | C | 99.98 | 99.99 | NM_018051.5 | |
| DYNC2I2 | C | 100.00 | 100.00 | NM_052844.4 | |
| DYNC2LI1 | C | 99.86 | 99.98 | NM_016008.4 | |
| DYNLT2B | C | 100.00 | 100.00 | NM_152773.5 | |
| EBP | C | 100.00 | 100.00 | NM_006579.3 | |
| ECEL1 | C | 100.00 | 100.00 | NM_004826.4 | |
| EDN1 | C | 100.00 | 100.00 | NM_001955.5 | |
| EDNRA | C | 100.00 | 100.00 | NM_001957.4 | |
| EFL1 | C | 99.98 | 100.00 | NM_024580.6 | |
| EFNB1 | C | 99.91 | 100.00 | NM_004429.5 | |
| EFTUD2 | C | 100.00 | 100.00 | NM_004247.4 | |
| EIF2AK3 | C | 99.96 | 100.00 | NM_004836.7 | |
| EIF4A3 | C | 100.00 | 100.00 | NM_014740.4 | |
| ENPP1 | C | 99.14 | 99.55 | NM_006208.3 | |
| EOGT | C | 99.75 | 99.98 | NM_001278689.2 | |
| EP300 | C | 99.97 | 100.00 | NM_001429.4 | |
| ERF | C | 99.98 | 100.00 | NM_006494.4 | |
| ESCO2 | C | 100.00 | 100.00 | NM_001017420.3 | |
| EVC | C | 99.4 | 99.79 | NM_153717.3 | |
| EVC2 | C | 100.00 | 100.00 | NM_147127.5 | |
| EXOC6B | C | 99.75 | 99.9 | NM_015189.3 | |
| EXOSC5 | C | 100.00 | 100.00 | NM_020158.4 | |
| EXT1 | C | 100.00 | 100.00 | NM_000127.3 | |
| EXT2 | C | 100.00 | 100.00 | NM_207122.2 | |
| EXTL3 | C | 100.00 | 100.00 | NM_001440.4 | |
| EZH2 | C | 100.00 | 100.00 | NM_004456.5 | |
| FAM111A | C | 100.00 | 100.00 | NM_001312909.2 | |
| FAM20B | C | 99.99 | 100.00 | NM_014864.4 | |
| FAM20C | C | 100.00 | 100.00 | NM_020223.4 | |
| FAR1 | C | 100.00 | 100.00 | NM_032228.6 | |
| FBLN1 | C | 99.99 | 100.00 | NM_006486.3 | |
| FBN1 | C | 99.96 | 99.99 | NM_000138.4 | |
| FBN2 | C | 100.00 | 100.00 | NM_001999.4 | |
| FBXW4 | C | 99.11 | 99.81 | NM_022039.4 | |
| FERMT3 | C | 100.00 | 100.00 | NM_031471.6 | |
| FGD1 | C | 99.99 | 100.00 | NM_004463.3 | |
| FGF10 | C | 100.00 | 100.00 | NM_004465.2 | |
| FGF23 | C | 100.00 | 100.00 | NM_020638.3 | |
| FGF8 | C | 100.00 | 100.00 | NM_033163.5 | |
| FGF9 | C | 100.00 | 100.00 | NM_002010.3 | |
| FGFR1 | C | 100.00 | 100.00 | NM_023110.3 | |
| FGFR2 | C | 100.00 | 100.00 | NM_000141.5 | |
| FGFR3 | C | 100.00 | 100.00 | NM_000142.5 | |
| FIG4 | C | 99.99 | 100.00 | NM_014845.6 | |
| FKBP10 | C | 100.00 | 100.00 | NM_021939.4 | |
| FKBP14 | C | 100.00 | 100.00 | NM_017946.4 | |
| FLNA | C | 100.00 | 100.00 | NM_001110556.2 | |
| FLNB | C | 100.00 | 100.00 | NM_001457.4 | |
| FMN1 | C | 100.00 | 100.00 | NM_001277313.2 | |
| FN1 | C | 100.00 | 100.00 | NM_212482.4 | |
| FUCA1 | C | 99.38 | 99.99 | NM_000147.5 | |
| FUZ | C | 99.97 | 100.00 | NM_025129.5 | |
| FZD2 | C | 100.00 | 100.00 | NM_001466.4 | |
| GALNS | C | 100.00 | 100.00 | NM_000512.5 | |
| GALNT3 | C | 99.99 | 100.00 | NM_004482.4 | |
| GCM2 | C | 100.00 | 100.00 | NM_004752.4 | |
| GDF3 | C | 100.00 | 100.00 | NM_020634.3 | |
| GDF5 | C | 100.00 | 100.00 | NM_000557.5 | |
| GDF6 | C | 99.89 | 99.97 | NM_001001557.4 | |
| GH1 | C | 100.00 | 100.00 | NM_000515.5 | |
| GHR | C | 99.8 | 99.8 | NM_000163.5 | |
| GHRHR | C | 99.99 | 100.00 | NM_000823.4 | |
| GHSR | C | 100.00 | 100.00 | NM_198407.2 | |
| GJA1 | C | 100.00 | 100.00 | NM_000165.5 | |
| GLB1 | C | 100.00 | 100.00 | NM_000404.4 | |
| GLI2 | C | 99.99 | 100.00 | NM_001374353.1 | |
| GLI3 | C | 100.00 | 100.00 | NM_000168.6 | |
| GMNN | C | 99.91 | 100.00 | NM_015895.5 | |
| GNAI3 | C | 99.89 | 100.00 | NM_006496.4 | |
| GNAS | C | 99.32 | 99.9 | NM_000516.7 | |
| GNPAT | C | 100.00 | 100.00 | NM_014236.4 | |
| GNPNAT1 | C | 100.00 | 100.00 | NM_198066.4 | |
| GNPTAB | C | 100.00 | 100.00 | NM_024312.5 | |
| GNPTG | C | 100.00 | 100.00 | NM_032520.5 | |
| GNS | C | 99.96 | 100.00 | NM_002076.4 | |
| GORAB | C | 100.00 | 100.00 | NM_152281.3 | |
| GPC3 | C | 100.00 | 100.00 | NM_004484.4 | |
| GPC6 | C | 100.00 | 100.00 | NM_005708.5 | |
| GPR161 | C | 99.98 | 100.00 | NM_001375883.1 | |
| GPX4 | C | 100.00 | 100.00 | NM_002085.5 | |
| GSC | C | 100.00 | 100.00 | NM_173849.3 | |
| GUSB | C | 95.49 | 95.49 | NM_000181.4 | |
| GZF1 | C | 100.00 | 100.00 | NM_022482.5 | |
| HAAO | C | 100.00 | 100.00 | NM_012205.3 | |
| HDAC4 | C | 100.00 | 100.00 | NM_001378414.1 | |
| HDAC8 | C | 99.95 | 100.00 | NM_018486.3 | |
| HES7 | C | 100.00 | 100.00 | NM_001165967.2 | |
| HESX1 | C | 100.00 | 100.00 | NM_003865.3 | |
| HGSNAT | C | 97.86 | 99.19 | NM_152419.3 | |
| HMGA2 | C | 99.83 | 100.00 | NM_003483.6 | |
| HOXA11 | C | 100.00 | 100.00 | NM_005523.6 | |
| HOXA13 | C | 91.69 | 97.15 | NM_000522.5 | |
| HOXD13 | C | 99.76 | 99.99 | NM_000523.4 | |
| HPGD | C | 100.00 | 100.00 | NM_000860.6 | |
| HRAS | C | 100.00 | 100.00 | NM_005343.4 | |
| HSPA9 | C | 100.00 | 100.00 | NM_004134.7 | |
| HSPG2 | C | 99.54 | 99.76 | NM_005529.7 | |
| HYLS1 | C | 100.00 | 100.00 | NM_001134793.2 | |
| IARS2 | C | 100.00 | 100.00 | NM_018060.4 | |
| ID4 | C | 100.00 | 100.00 | NM_001546.4 | |
| IDH1 | C | 100.00 | 100.00 | NM_005896.4 | |
| IDH2 | C | 100.00 | 100.00 | NM_002168.4 | |
| IDS | C | 99.95 | 100.00 | NM_000202.8 | |
| IDUA | C | 100.00 | 100.00 | NM_000203.5 | |
| IFIH1 | C | 100.00 | 100.00 | NM_022168.4 | |
| IFITM5 | C | 100.00 | 100.00 | NM_001025295.3 | |
| IFT122 | C | 99.96 | 99.99 | NM_052989.3 | |
| IFT140 | C | 100.00 | 100.00 | NM_014714.4 | |
| IFT172 | C | 100.00 | 100.00 | NM_015662.3 | |
| IFT43 | C | 100.00 | 100.00 | NM_001102564.3 | |
| IFT52 | C | 100.00 | 100.00 | NM_016004.5 | |
| IFT80 | C | 99.98 | 100.00 | NM_020800.3 | |
| IFT81 | C | 99.94 | 99.99 | NM_014055.4 | |
| IGF1 | C | 100.00 | 100.00 | NM_000618.5 | |
| IGF1R | C | 100.00 | 100.00 | NM_000875.5 | |
| IGF2 | C | 100.00 | 100.00 | NM_000612.6 | |
| IGFALS | C | 100.00 | 100.00 | NM_004970.3 | |
| IGSF1 | C | 100.00 | 100.00 | NM_001555.5 | |
| IHH | C | 100.00 | 100.00 | NM_002181.4 | |
| IKBKB | C | 100.00 | 100.00 | NM_001556.3 | |
| IKBKG | C | 22.33 | 26.3 | NM_001099857.5 | |
| IL1RN | C | 100.00 | 100.00 | NM_173842.3 | |
| IL2RG | C | 99.96 | 100.00 | NM_000206.3 | |
| IL6ST | C | 100.00 | 100.00 | NM_002184.4 | |
| INPPL1 | C | 99.99 | 100.00 | NM_001567.4 | |
| INTU | C | 100.00 | 100.00 | NM_015693.4 | |
| KAT6B | C | 99.99 | 100.00 | NM_012330.4 | |
| KCNJ2 | C | 100.00 | 100.00 | NM_000891.3 | |
| KDELR2 | C | 100.00 | 100.00 | NM_006854.4 | |
| KIAA0586 | C | 100.00 | 100.00 | NM_001329943.3 | |
| KIAA0753 | C | 100.00 | 100.00 | NM_014804.3 | |
| KIF22 | C | 99.99 | 100.00 | NM_007317.3 | |
| KIF7 | C | 99.98 | 100.00 | NM_198525.3 | |
| KL | C | 98.66 | 99.25 | NM_004795.4 | |
| KMT2A | C | 99.96 | 100.00 | NM_001197104.2 | |
| KRAS | C | 100.00 | 100.00 | NM_004985.5 | |
| LBR | C | 100.00 | 100.00 | NM_002296.4 | |
| LBX1 | C | 100.00 | 100.00 | NM_006562.5 | |
| LEMD3 | C | 100.00 | 100.00 | NM_014319.5 | |
| LFNG | C | 93.55 | 96.82 | NM_001040167.2 | |
| LHX3 | C | 100.00 | 100.00 | NM_178138.6 | |
| LHX4 | C | 100.00 | 100.00 | NM_033343.4 | |
| LIFR | C | 99.98 | 100.00 | NM_001127671.2 | |
| LMNA | C | 99.95 | 100.00 | NM_170707.4 | |
| LMX1B | C | 100.00 | 100.00 | NM_001174147.2 | |
| LONP1 | C | 99.96 | 100.00 | NM_004793.4 | |
| LPIN2 | C | 100.00 | 100.00 | NM_001375808.2 | |
| LRP4 | C | 100.00 | 100.00 | NM_002334.4 | |
| LRP5 | C | 99.84 | 99.94 | NM_002335.4 | |
| LRRK1 | C | 100.00 | 100.00 | NM_024652.6 | |
| LTBP2 | C | 100.00 | 100.00 | NM_000428.3 | |
| LTBP3 | C | 99.99 | 100.00 | NM_001130144.3 | |
| LYSET | C | ||||
| LZTR1 | C | 98.92 | 99.83 | NM_006767.4 | |
| MAFB | C | 100.00 | 100.00 | NM_005461.5 | |
| MAN2B1 | C | 99.99 | 100.00 | NM_000528.4 | |
| MANBA | C | 100.00 | 100.00 | NM_005908.4 | |
| MAP2K1 | C | 100.00 | 100.00 | NM_002755.4 | |
| MAP2K2 | C | 99.99 | 100.00 | NM_030662.4 | |
| MAP3K20 | C | 99.96 | 99.99 | NM_016653.3 | |
| MAP3K7 | C | 100.00 | 100.00 | NM_145331.3 | |
| MATN3 | C | 100.00 | 100.00 | NM_002381.5 | |
| MBTPS2 | C | 99.99 | 100.00 | NM_015884.4 | |
| MECOM | C | 100.00 | 100.00 | NM_004991.4 | |
| MEGF8 | C | 99.95 | 99.99 | NM_001271938.2 | |
| MEOX1 | C | 100.00 | 100.00 | NM_004527.4 | |
| MESD | C | 100.00 | 100.00 | NM_015154.3 | |
| MESP2 | C | 100.00 | 100.00 | NM_001039958.2 | |
| MET | C | 100.00 | 100.00 | NM_000245.4 | |
| MGP | C | 100.00 | 100.00 | NM_000900.5 | |
| MKS1 | C | 99.9 | 99.98 | NM_017777.4 | |
| MMP13 | C | 100.00 | 100.00 | NM_002427.4 | |
| MMP14 | C | 100.00 | 100.00 | NM_004995.4 | |
| MMP2 | C | 100.00 | 100.00 | NM_004530.6 | |
| MMP9 | C | 100.00 | 100.00 | NM_004994.3 | |
| MNX1 | C | 83.12 | 86.38 | NM_005515.4 | |
| MSX2 | C | 100.00 | 100.00 | NM_002449.5 | |
| MTAP | C | 100.00 | 100.00 | NM_002451.4 | |
| MYCN | C | 99.55 | 99.93 | NM_005378.6 | |
| MYH3 | C | 100.00 | 100.00 | NM_002470.4 | |
| MYL11 | C | ||||
| MYO18B | C | 100.00 | 100.00 | NM_032608.7 | |
| NAGLU | C | 99.95 | 100.00 | NM_000263.4 | |
| NANS | C | 100.00 | 100.00 | NM_018946.4 | |
| NBAS | C | 99.97 | 100.00 | NM_015909.4 | |
| NEK1 | C | 99.97 | 99.99 | NM_001199397.3 | |
| NEK9 | C | 100.00 | 100.00 | NM_033116.6 | |
| NEU1 | C | 100.00 | 100.00 | NM_000434.4 | |
| NF1 | C | 97.52 | 97.54 | NM_001042492.3 | |
| NFIX | C | 98.54 | 99.31 | NM_001365902.3 | |
| NIN | C | 99.99 | 100.00 | NM_020921.4 | |
| NIPBL | C | 99.74 | 99.85 | NM_133433.4 | |
| NKX3-2 | C | 99.97 | 100.00 | NM_001189.4 | |
| NLRP3 | C | 100.00 | 100.00 | NM_001243133.2 | |
| NOG | C | 99.99 | 100.00 | NM_005450.6 | |
| NOTCH1 | C | 99.97 | 99.99 | NM_017617.5 | |
| NOTCH2 | C | 99.73 | 99.92 | NM_024408.4 | |
| NPPC | C | 100.00 | 100.00 | NM_024409.4 | |
| NPR2 | C | 100.00 | 100.00 | NM_003995.4 | |
| NPR3 | C | 100.00 | 100.00 | NM_001204375.2 | |
| NRAS | C | 100.00 | 100.00 | NM_002524.5 | |
| NSD1 | C | 100.00 | 100.00 | NM_022455.5 | |
| NSDHL | C | 100.00 | 100.00 | NM_015922.3 | |
| NSMCE2 | C | 100.00 | 100.00 | NM_173685.4 | |
| NXN | C | 99.96 | 100.00 | NM_022463.5 | |
| OBSL1 | C | 100.00 | 100.00 | NM_015311.3 | |
| OFD1 | C | 99.98 | 100.00 | NM_003611.3 | |
| ORC1 | C | 99.97 | 100.00 | NM_004153.4 | |
| ORC4 | C | 100.00 | 100.00 | NM_181741.4 | |
| ORC6 | C | 99.92 | 100.00 | NM_014321.4 | |
| OSTM1 | C | 100.00 | 100.00 | NM_014028.4 | |
| OTX2 | C | 100.00 | 100.00 | NM_021728.4 | |
| P3H1 | C | 99.99 | 100.00 | NM_001243246.1 | |
| P4HB | C | 100.00 | 100.00 | NM_000918.4 | |
| PAM16 | C | 100.00 | 100.00 | NM_016069.11 | |
| PAPPA2 | C | 99.99 | 100.00 | NM_020318.3 | |
| PAPSS2 | C | 99.99 | 100.00 | NM_001015880.2 | |
| PAX3 | C | 100.00 | 100.00 | NM_181458.4 | |
| PCNT | C | 100.00 | 100.00 | NM_006031.6 | |
| PCYT1A | C | 100.00 | 100.00 | NM_001312673.2 | |
| PDE3A | C | 100.00 | 100.00 | NM_000921.5 | |
| PDE4D | C | 99.84 | 99.95 | NM_001104631.2 | |
| PEX5 | C | 100.00 | 100.00 | NM_001351132.2 | |
| PEX6 | C | 100.00 | 100.00 | NM_000287.4 | |
| PEX7 | C | 100.00 | 100.00 | NM_000288.4 | |
| PHEX | C | 99.94 | 100.00 | NM_000444.6 | |
| PHGDH | C | 99.94 | 99.99 | NM_006623.4 | |
| PIGV | C | 100.00 | 100.00 | NM_017837.4 | |
| PIK3R1 | C | 100.00 | 100.00 | NM_181523.3 | |
| PISD | C | 100.00 | 100.00 | NM_001326411.2 | |
| PITX1 | C | 100.00 | 100.00 | NM_002653.5 | |
| PITX2 | C | 100.00 | 100.00 | NM_000325.6 | |
| PKDCC | C | 95.5 | 98.46 | NM_138370.3 | |
| PLAG1 | C | 100.00 | 100.00 | NM_002655.3 | |
| PLCB3 | C | 99.99 | 100.00 | NM_000932.5 | |
| PLCB4 | C | 100.00 | 100.00 | NM_001377142.1 | |
| PLEKHM1 | C | 99.92 | 99.99 | NM_014798.3 | |
| PLK4 | C | 100.00 | 100.00 | NM_014264.5 | |
| PLOD1 | C | 100.00 | 100.00 | NM_000302.4 | |
| PLOD2 | C | 99.93 | 100.00 | NM_182943.3 | |
| PLS3 | C | 100.00 | 100.00 | NM_005032.7 | |
| PNPLA6 | C | 100.00 | 100.00 | NM_001166114.2 | |
| POC1A | C | 100.00 | 100.00 | NM_015426.5 | |
| POLE | C | 99.99 | 100.00 | NM_006231.4 | |
| POLL | C | 100.00 | 100.00 | NM_001174084.2 | |
| POLR1A | C | 99.98 | 100.00 | NM_015425.6 | |
| POLR1C | C | 100.00 | 100.00 | NM_203290.4 | |
| POLR1D | C | 100.00 | 100.00 | NM_015972.4 | |
| POLR3A | C | 100.00 | 100.00 | NM_007055.4 | |
| POLR3B | C | 100.00 | 100.00 | NM_018082.6 | |
| POP1 | C | 100.00 | 100.00 | NM_001145860.2 | |
| POR | C | 99.99 | 100.00 | NM_001395413.1 | |
| POU1F1 | C | 100.00 | 100.00 | NM_000306.4 | |
| PPIB | C | 100.00 | 100.00 | NM_000942.5 | |
| PPM1D | C | 99.99 | 100.00 | NM_003620.4 | |
| PPP1CB | C | 99.99 | 100.00 | NM_002709.3 | |
| PRKAR1A | C | 100.00 | 100.00 | NM_002734.5 | |
| PRKG2 | C | 99.96 | 100.00 | NM_006259.3 | |
| PROKR2 | C | 100.00 | 100.00 | NM_144773.4 | |
| PROP1 | C | 99.98 | 100.00 | NM_006261.5 | |
| PSAT1 | C | 100.00 | 100.00 | NM_058179.4 | |
| PSMB1 | C | 100.00 | 100.00 | NM_002793.4 | |
| PTDSS1 | C | 99.93 | 100.00 | NM_014754.3 | |
| PTH1R | C | 100.00 | 100.00 | NM_000316.3 | |
| PTHLH | C | 99.91 | 100.00 | NM_198965.2 | |
| PTPN11 | C | 100.00 | 100.00 | NM_002834.5 | |
| PYCR1 | C | 100.00 | 100.00 | NM_006907.4 | |
| RAB23 | C | 100.00 | 100.00 | NM_016277.5 | |
| RAB33B | C | 100.00 | 100.00 | NM_031296.3 | |
| RAC3 | C | 99.85 | 99.86 | NM_005052.3 | |
| RAD21 | C | 100.00 | 100.00 | NM_006265.3 | |
| RAF1 | C | 100.00 | 100.00 | NM_002880.4 | |
| RASGRP2 | C | 100.00 | 100.00 | NM_001098671.2 | |
| RBBP8 | C | 100.00 | 100.00 | NM_002894.3 | |
| RBM8A | C | 100.00 | 100.00 | NM_005105.4 | |
| RBPJ | C | 100.00 | 100.00 | NM_015874.6 | |
| RECQL4 | C | 100.00 | 100.00 | NM_004260.4 | |
| RIGI | C | ||||
| RIPPLY2 | C | 100.00 | 100.00 | NM_001009994.3 | |
| RIT1 | C | 100.00 | 100.00 | NM_006912.6 | |
| RNPC3 | C | 98.43 | 99.75 | NM_017619.4 | |
| ROR2 | C | 100.00 | 100.00 | NM_004560.4 | |
| RPGRIP1L | C | 96.53 | 96.54 | NM_015272.5 | |
| RPL10 | C | 81.23 | 91.54 | NM_001303625.1 | |
| RPL13 | C | 99.97 | 100.00 | NM_000977.4 | |
| RRAS | C | 100.00 | 100.00 | NM_006270.5 | |
| RREB1 | C | 100.00 | 100.00 | NM_001003699.4 | |
| RSPO2 | C | 100.00 | 100.00 | NM_178565.5 | |
| RSPRY1 | C | 100.00 | 100.00 | NM_133368.3 | |
| RUNX2 | C | 100.00 | 100.00 | NM_001024630.4 | |
| SALL1 | C | 100.00 | 100.00 | NM_002968.3 | |
| SALL4 | C | 100.00 | 100.00 | NM_020436.5 | |
| SBDS | C | 100.00 | 100.00 | NM_016038.4 | |
| SCARF2 | C | 99.61 | 99.94 | NM_182895.5 | |
| SEC24D | C | 99.96 | 100.00 | NM_014822.4 | |
| SEMA3A | C | 100.00 | 100.00 | NM_006080.3 | |
| SERPINF1 | C | 100.00 | 100.00 | NM_002615.7 | |
| SERPINH1 | C | 100.00 | 100.00 | NM_001235.5 | |
| SETD2 | C | 100.00 | 100.00 | NM_014159.7 | |
| SF3B4 | C | 99.98 | 100.00 | NM_005850.5 | |
| SFRP4 | C | 99.86 | 99.93 | NM_003014.4 | |
| SGMS2 | C | 100.00 | 100.00 | NM_001375905.1 | |
| SGSH | C | 100.00 | 100.00 | NM_000199.5 | |
| SH3BP2 | C | 100.00 | 100.00 | NM_001122681.2 | |
| SH3PXD2B | C | 100.00 | 100.00 | NM_001017995.3 | |
| SHH | C | 100.00 | 100.00 | NM_000193.4 | |
| SHOC2 | C | 100.00 | 100.00 | NM_007373.4 | |
| SHOX | C | 0 | 0 | NM_000451.4 | |
| SKI | C | 99.98 | 100.00 | NM_003036.4 | |
| SLC10A7 | C | 99.85 | 100.00 | NM_001029998.6 | |
| SLC17A5 | C | 99.97 | 100.00 | NM_012434.5 | |
| SLC25A24 | C | 97.13 | 99.63 | NM_013386.5 | |
| SLC26A2 | C | 100.00 | 100.00 | NM_000112.4 | |
| SLC29A3 | C | 100.00 | 100.00 | NM_018344.6 | |
| SLC34A3 | C | 99.97 | 100.00 | NM_001177316.2 | |
| SLC35C1 | C | 100.00 | 100.00 | NM_018389.5 | |
| SLC35D1 | C | 99 | 99.95 | NM_015139.3 | |
| SLC39A13 | C | 100.00 | 100.00 | NM_001128225.3 | |
| SLCO2A1 | C | 100.00 | 100.00 | NM_005630.3 | |
| SLCO5A1 | C | 100.00 | 100.00 | NM_030958.3 | |
| SMAD2 | C | 100.00 | 100.00 | NM_005901.6 | |
| SMAD3 | C | 100.00 | 100.00 | NM_005902.4 | |
| SMAD4 | C | 100.00 | 100.00 | NM_005359.6 | |
| SMARCA4 | C | 99.99 | 100.00 | NM_003072.5 | |
| SMARCAL1 | C | 99.97 | 100.00 | NM_014140.4 | |
| SMARCB1 | C | 100.00 | 100.00 | NM_003073.5 | |
| SMARCE1 | C | 100.00 | 100.00 | NM_003079.5 | |
| SMC1A | C | 99.99 | 100.00 | NM_006306.3 | |
| SMC3 | C | 100.00 | 100.00 | NM_005445.4 | |
| SNRPB | C | 99.97 | 100.00 | NM_003091.4 | |
| SNX10 | C | 100.00 | 100.00 | NM_013322.3 | |
| SOS1 | C | 99.99 | 100.00 | NM_005633.4 | |
| SOS2 | C | 99.98 | 100.00 | NM_006939.4 | |
| SOST | C | 99.97 | 100.00 | NM_025237.3 | |
| SOX2 | C | 100.00 | 100.00 | NM_003106.4 | |
| SOX3 | C | 100.00 | 100.00 | NM_005634.3 | |
| SOX9 | C | 100.00 | 100.00 | NM_000346.4 | |
| SP7 | C | 100.00 | 100.00 | NM_001173467.3 | |
| SPARC | C | 99.99 | 100.00 | NM_003118.4 | |
| SPECC1L | C | 100.00 | 100.00 | NM_001145468.4 | |
| SPINK5 | C | 100.00 | 100.00 | NM_006846.4 | |
| SPR | C | 100.00 | 100.00 | NM_003124.5 | |
| SPRED1 | C | 100.00 | 100.00 | NM_152594.3 | |
| SRCAP | C | 100.00 | 100.00 | NM_006662.3 | |
| SRP54 | C | 100.00 | 100.00 | NM_003136.4 | |
| STAT3 | C | 99.98 | 100.00 | NM_139276.3 | |
| STAT5B | C | 99.7 | 99.95 | NM_012448.4 | |
| SULF1 | C | 100.00 | 100.00 | NM_001128205.2 | |
| SUMF1 | C | 100.00 | 100.00 | NM_182760.4 | |
| TAB2 | C | 100.00 | 100.00 | NM_001292034.3 | |
| TAPT1 | C | 99.74 | 99.97 | NM_153365.3 | |
| TBCE | C | 99.99 | 100.00 | NM_003193.5 | |
| TBX15 | C | 99.99 | 100.00 | NM_001330677.2 | |
| TBX3 | C | 100.00 | 100.00 | NM_005996.4 | |
| TBX4 | C | 100.00 | 100.00 | NM_001321120.2 | |
| TBX5 | C | 100.00 | 100.00 | NM_181486.4 | |
| TBX6 | C | 100.00 | 100.00 | NM_004608.4 | |
| TBXAS1 | C | 100.00 | 100.00 | NM_001061.7 | |
| TCF12 | C | 100.00 | 100.00 | NM_207037.2 | |
| TCIRG1 | C | 100.00 | 100.00 | NM_006019.4 | |
| TCOF1 | C | 99.97 | 100.00 | NM_001371623.1 | |
| TCTN2 | C | 100.00 | 100.00 | NM_024809.5 | |
| TCTN3 | C | 100.00 | 100.00 | NM_015631.6 | |
| TENT5A | C | 100.00 | 100.00 | NM_017633.3 | |
| TGDS | C | 100.00 | 100.00 | NM_014305.4 | |
| TGFB1 | C | 100.00 | 100.00 | NM_000660.7 | |
| TGFB2 | C | 100.00 | 100.00 | NM_003238.6 | |
| TGFB3 | C | 100.00 | 100.00 | NM_003239.5 | |
| TGFBR1 | C | 98.33 | 99.28 | NM_004612.4 | |
| TGFBR2 | C | 100.00 | 100.00 | NM_003242.6 | |
| THPO | C | 100.00 | 100.00 | NM_000460.4 | |
| TMEM165 | C | 100.00 | 100.00 | NM_018475.5 | |
| TMEM216 | C | 99.83 | 100.00 | NM_001173990.3 | |
| TMEM231 | C | 91.23 | 94.98 | NM_001077418.3 | |
| TMEM38B | C | 100.00 | 100.00 | NM_018112.3 | |
| TMEM67 | C | 99.96 | 100.00 | NM_153704.6 | |
| TNFRSF11A | C | 98.66 | 99.59 | NM_003839.4 | |
| TNFRSF11B | C | 100.00 | 100.00 | NM_002546.4 | |
| TNFSF11 | C | 100.00 | 100.00 | NM_003701.4 | |
| TONSL | C | 100.00 | 100.00 | NM_013432.5 | |
| TP63 | C | 100.00 | 100.00 | NM_003722.5 | |
| TRAF3IP1 | C | 99.99 | 100.00 | NM_015650.4 | |
| TRAIP | C | 99.99 | 100.00 | NM_005879.3 | |
| TRAPPC2 | C | 99.99 | 100.00 | NM_001011658.4 | |
| TREM2 | C | 100.00 | 100.00 | NM_018965.4 | |
| TRIP11 | C | 100.00 | 100.00 | NM_004239.4 | |
| TRPS1 | C | 100.00 | 100.00 | NM_014112.5 | |
| TRPV4 | C | 100.00 | 100.00 | NM_021625.5 | |
| TRPV6 | C | 100.00 | 100.00 | NM_018646.5 | |
| TTC21B | C | 99.99 | 100.00 | NM_024753.5 | |
| TTI2 | C | 100.00 | 100.00 | NM_001102401.4 | |
| TWIST1 | C | 98.87 | 99.78 | NM_000474.4 | |
| TYROBP | C | 100.00 | 100.00 | NM_003332.4 | |
| UFSP2 | C | 100.00 | 100.00 | NM_018359.5 | |
| VAC14 | C | 99.96 | 100.00 | NM_018052.5 | |
| VDR | C | 100.00 | 100.00 | NM_000376.3 | |
| VPS33A | C | 100.00 | 100.00 | NM_022916.6 | |
| VPS35L | C | 99.53 | 99.91 | NM_020314.7 | |
| WDR19 | C | 99.98 | 100.00 | NM_025132.4 | |
| WDR35 | C | 100.00 | 100.00 | NM_020779.4 | |
| WNT1 | C | 99.72 | 99.8 | NM_005430.4 | |
| WNT10B | C | 99.96 | 100.00 | NM_003394.4 | |
| WNT3 | C | 100.00 | 100.00 | NM_030753.5 | |
| WNT5A | C | 99.97 | 100.00 | NM_003392.7 | |
| WNT6 | C | 100.00 | 100.00 | NM_006522.4 | |
| WNT7A | C | 100.00 | 100.00 | NM_004625.4 | |
| XRCC4 | C | 100.00 | 100.00 | NM_003401.5 | |
| XYLT1 | C | 98.12 | 99.31 | NM_022166.4 | |
| XYLT2 | C | 99.51 | 99.93 | NM_022167.4 | |
| ZBTB16 | C | 100.00 | 100.00 | NM_006006.6 | |
| ZMPSTE24 | C | 99.98 | 100.00 | NM_005857.5 | |
| ZSWIM6 | C | 94.22 | 95.97 | NM_020928.2 |
| Indication(s) |
|---|
| Skeletal Disorders |
** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory
*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C