| Panel naam | NGS Microcefalie |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | MCPHv3 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (137) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADARB1 | C | 100.00 | 100.00 | NM_001112.4 | |
| AGMO | C | 100.00 | 100.00 | NM_001004320.2 | |
| AMPD2 | C | 99.67 | 99.98 | NM_001368809.2 | |
| ANKLE2 | C | 99.85 | 99.96 | NM_015114.3 | |
| AP4M1 | C | 100.00 | 100.00 | NM_004722.4 | |
| ARFGEF2 | C | 100.00 | 100.00 | NM_006420.3 | |
| ASPM | C | 100.00 | 100.00 | NM_018136.5 | |
| ASXL1 | C | 100.00 | 100.00 | NM_015338.5 | |
| ASXL3 | C | 100.00 | 100.00 | NM_030632.3 | |
| ATR | C | 99.99 | 100.00 | NM_001184.4 | |
| ATRX | C | 99.92 | 99.99 | NM_000489.5 | |
| BLM | C | 100.00 | 100.00 | NM_000057.4 | |
| BRAT1 | C | 100.00 | 100.00 | NM_152743.4 | |
| CARS1 | C | 100.00 | 100.00 | NM_001014437.3 | |
| CASK | C | 99.99 | 100.00 | NM_001367721.1 | |
| CCDC88A | C | 99.98 | 99.99 | NM_001365480.1 | |
| CDC6 | C | 100.00 | 100.00 | NM_001254.4 | |
| CDK5RAP2 | C | 100.00 | 100.00 | NM_018249.6 | |
| CDK6 | C | 99.89 | 100.00 | NM_001145306.2 | |
| CDKL5 | C | 99.92 | 99.99 | NM_001323289.2 | |
| CDT1 | C | 99.99 | 100.00 | NM_030928.4 | |
| CENPE | C | 99.96 | 99.99 | NM_001813.3 | |
| CENPF | C | 100.00 | 100.00 | NM_016343.4 | |
| CENPF | C | 100.00 | 100.00 | NM_016343.4 | |
| CENPJ | C | 100.00 | 100.00 | NM_018451.5 | |
| CEP135 | C | 99.98 | 100.00 | NM_025009.5 | |
| CEP152 | C | 99.99 | 100.00 | NM_001194998.2 | |
| CEP63 | C | 100.00 | 100.00 | NM_001353108.3 | |
| CIT | C | 100.00 | 100.00 | NM_001206999.2 | |
| CKAP2L | C | 99.99 | 100.00 | NM_152515.5 | |
| COASY | C | 100.00 | 100.00 | NM_025233.7 | |
| COPB2 | C | 99.95 | 100.00 | NM_004766.3 | |
| CREBBP | C | 100.00 | 100.00 | NM_004380.3 | |
| CRIPT | C | 100.00 | 100.00 | NM_014171.6 | |
| CTNNB1 | C | 100.00 | 100.00 | NM_001904.4 | |
| DDX11 | C | 99.89 | 100.00 | NM_030653.4 | |
| DDX3X | C | 99.5 | 99.84 | NM_001356.5 | |
| DHCR7 | C | 100.00 | 100.00 | NM_001360.3 | |
| DIAPH1 | C | 100.00 | 100.00 | NM_005219.5 | |
| DONSON | C | 99.81 | 99.97 | NM_017613.4 | |
| DYNC1I2 | C | 99.93 | 99.99 | NM_001378.3 | |
| DYRK1A | C | 99.99 | 99.99 | NM_001347721.2 | |
| EFTUD2 | C | 100.00 | 100.00 | NM_004247.4 | |
| EIF2S3 | C | 100.00 | 100.00 | NM_001415.4 | |
| EP300 | C | 99.97 | 100.00 | NM_001429.4 | |
| ERCC6 | C | 99.99 | 100.00 | NM_000124.4 | |
| ERCC8 | C | 99.99 | 100.00 | NM_000082.4 | |
| FOXG1 | C | 93.75 | 97.53 | NM_005249.5 | |
| HDAC8 | C | 99.95 | 100.00 | NM_018486.3 | |
| IER3IP1 | C | 100.00 | 100.00 | NM_016097.5 | |
| IGF1R | C | 100.00 | 100.00 | NM_000875.5 | |
| KAT6A | C | 100.00 | 100.00 | NM_006766.5 | |
| KATNB1 | C | 99.86 | 99.94 | NM_005886.3 | |
| KIF11 | C | 100.00 | 100.00 | NM_004523.4 | |
| KIF14 | C | 99.9 | 99.98 | NM_014875.3 | |
| KIF1A | C | 100.00 | 100.00 | NM_001244008.2 | |
| KIFBP | C | 100.00 | 100.00 | NM_015634.4 | |
| KMT2D | C | 99.99 | 100.00 | NM_003482.4 | |
| KNL1 | C | 99.99 | 100.00 | NM_144508.5 | |
| LARP7 | C | 99.99 | 100.00 | NM_016648.4 | |
| LIG4 | C | 100.00 | 100.00 | NM_206937.2 | |
| LMNB1 | C | 100.00 | 100.00 | NM_005573.4 | |
| MCPH1 | C | 100.00 | 100.00 | NM_024596.5 | |
| MECP2 | C | 99.58 | 99.98 | NM_001110792.2 | |
| MED17 | C | 100.00 | 100.00 | NM_004268.5 | |
| METTL5 | C | 99.87 | 99.91 | NM_014168.4 | |
| MFSD2A | C | 99.89 | 99.95 | NM_032793.5 | |
| MSMO1 | C | 100.00 | 100.00 | NM_006745.5 | |
| MYCN | C | 99.55 | 99.93 | NM_005378.6 | |
| NBN | C | 99.99 | 100.00 | NM_002485.5 | |
| NDE1 | C | 99.97 | 100.00 | NM_017668.3 | |
| NHEJ1 | C | 100.00 | 100.00 | NM_024782.3 | |
| NIN | C | 99.99 | 100.00 | NM_020921.4 | |
| NIPBL | C | 99.74 | 99.85 | NM_133433.4 | |
| 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 | |
| OSGEP | C | 100.00 | 100.00 | NM_017807.4 | |
| PCNT | C | 100.00 | 100.00 | NM_006031.6 | |
| PDHA1 | C | 100.00 | 100.00 | NM_000284.4 | |
| PHC1 | C | 92.45 | 94.99 | NM_004426.3 | |
| PLK4 | C | 100.00 | 100.00 | NM_014264.5 | |
| PNKP | C | 100.00 | 100.00 | NM_007254.4 | |
| PPP1R15B | C | 100.00 | 100.00 | NM_032833.4 | |
| PQBP1 | C | 100.00 | 100.00 | NM_001032382.2 | |
| PRUNE1 | C | 99.69 | 99.93 | NM_021222.3 | |
| PYCR2 | C | 99.93 | 100.00 | NM_013328.4 | |
| QARS1 | C | 100.00 | 100.00 | NM_005051.3 | |
| RAB18 | C | 100.00 | 100.00 | NM_021252.5 | |
| RAB3GAP1 | C | 100.00 | 100.00 | NM_012233.3 | |
| RAB3GAP2 | C | 99.97 | 100.00 | NM_012414.4 | |
| RAD50 | C | 99.98 | 100.00 | NM_005732.4 | |
| RBBP8 | C | 100.00 | 100.00 | NM_002894.3 | |
| RNASEH2C | C | 100.00 | 100.00 | NM_032193.4 | |
| RTTN | C | 100.00 | 100.00 | NM_173630.4 | |
| SASS6 | C | 98.22 | 99.65 | NM_194292.3 | |
| SEPSECS | C | 99.93 | 99.99 | NM_016955.4 | |
| SHMT2 | C | 99.97 | 100.00 | NM_005412.6 | |
| SLC1A4 | C | 99.94 | 99.98 | NM_003038.5 | |
| SLC25A19 | C | 100.00 | 100.00 | NM_001126121.2 | |
| SLC2A1 | C | 99.92 | 100.00 | NM_006516.4 | |
| SLC9A6 | C | 99.79 | 99.89 | NM_001379110.1 | |
| SLF2 | C | 100.00 | 100.00 | NM_018121.4 | |
| SMC5 | C | 100.00 | 100.00 | NM_015110.4 | |
| SMPD4 | C | 99.71 | 99.91 | NM_017951.5 | |
| SNAP29 | C | 100.00 | 100.00 | NM_004782.4 | |
| SOX11 | C | 100.00 | 100.00 | NM_003108.4 | |
| SPATA5 | C | 99.95 | 100.00 | NM_145207.3 | |
| STAMBP | C | 100.00 | 100.00 | NM_213622.4 | |
| STIL | C | 99.97 | 100.00 | NM_001048166.1 | |
| TBC1D20 | C | 100.00 | 100.00 | NM_144628.4 | |
| TCF4 | C | 99.86 | 100.00 | NM_001083962.2 | |
| TMX2 | C | 100.00 | 100.00 | NM_015959.4 | |
| TRAIP | C | 99.99 | 100.00 | NM_005879.3 | |
| TRAPPC9 | C | 100.00 | 100.00 | NM_001160372.4 | |
| TRMT10A | C | 100.00 | 100.00 | NM_001134665.3 | |
| TSEN2 | C | 100.00 | 100.00 | NM_025265.4 | |
| TSEN34 | C | 100.00 | 100.00 | NM_001077446.4 | |
| TSEN54 | C | 99.66 | 99.92 | NM_207346.3 | |
| TUBA1A | C | 100.00 | 100.00 | NM_006009.4 | |
| TUBB3 | C | 100.00 | 100.00 | NM_006086.4 | |
| TUBGCP2 | C | 100.00 | 100.00 | NM_006659.4 | |
| TUBGCP4 | C | 99.95 | 100.00 | NM_014444.5 | |
| TUBGCP6 | C | 100.00 | 100.00 | NM_020461.4 | |
| UBA5 | C | 100.00 | 100.00 | NM_024818.6 | |
| UBE3A | C | 100.00 | 100.00 | NM_130839.5 | |
| UFC1 | C | 99.82 | 100.00 | NM_016406.4 | |
| UFM1 | C | 100.00 | 100.00 | NM_016617.4 | |
| VPS13B | C | 100.00 | 100.00 | NM_152564.5 | |
| WDFY3 | C | 100.00 | 100.00 | NM_014991.6 | |
| WDR62 | C | 100.00 | 100.00 | NM_001083961.2 | |
| WDR73 | C | 100.00 | 100.00 | NM_032856.5 | |
| WWOX | C | 100.00 | 100.00 | NM_016373.4 | |
| XRCC4 | C | 100.00 | 100.00 | NM_003401.5 | |
| ZEB2 | C | 100.00 | 100.00 | NM_014795.4 | |
| ZNF335 | C | 100.00 | 100.00 | NM_022095.4 | |
| ZNHIT3 | C | 99.98 | 100.00 | NM_004773.4 |
| Indicatie(s) |
|---|
| Microcefalie |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C