| Panel naam | NGS Wittestofziekten |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | v10 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (197) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AARS1 | C | 100.00 | 100.00 | NM_001605.3 | |
| AARS2 | C | 99.99 | 100.00 | NM_020745.4 | |
| ABCD1 | C | 99.99 | 100.00 | NM_000033.4 | |
| ADAR | C | 100.00 | 100.00 | NM_001111.5 | |
| AGPS | C | 100.00 | 100.00 | NM_003659.4 | |
| AIFM1 | C | 100.00 | 100.00 | NM_004208.4 | |
| AIMP1 | C | 99.96 | 100.00 | NM_001142416.2 | |
| ALDH3A2 | C | 99.98 | 100.00 | NM_000382.3 | |
| AMT | C | 100.00 | 100.00 | NM_000481.4 | |
| APP | C | 100.00 | 100.00 | NM_000484.4 | |
| ARSA | C | 100.00 | 100.00 | NM_000487.6 | |
| ASPA | C | 100.00 | 100.00 | NM_000049.4 | |
| ATAD3A | C | 99.51 | 99.84 | NM_001170535.3 | |
| ATAD3B | C | 98.8 | 99.45 | NM_031921.6 | |
| ATN1 | C | 100.00 | 100.00 | NM_001940.4 | |
| ATRN | C | 100.00 | 100.00 | NM_139321.3 | |
| ATRX | C | 99.92 | 99.99 | NM_000489.5 | |
| AUH | C | 100.00 | 100.00 | NM_001698.3 | |
| BCAP31 | C | 99.78 | 99.91 | NM_001256447.2 | |
| BCKDHA | C | 100.00 | 100.00 | NM_000709.4 | |
| BCKDHB | C | 100.00 | 100.00 | NM_183050.4 | |
| BOLA3 | C | 99.96 | 100.00 | NM_212552.3 | |
| BPIFA2 | C | 100.00 | 100.00 | NM_080574.4 | |
| C1R | C | 93.65 | 94.84 | NM_001733.7 | |
| CBS | C | 100.00 | 100.00 | NM_000071.3 | |
| CLCN2 | C | 100.00 | 100.00 | NM_004366.6 | |
| CLPP | C | 100.00 | 100.00 | NM_006012.4 | |
| CNTNAP1 | C | 99.98 | 99.99 | NM_003632.3 | |
| COA8 | C | 100.00 | 100.00 | NM_001370595.2 | |
| COL4A1 | C | 99.99 | 100.00 | NM_001845.6 | |
| COL4A2 | C | 100.00 | 100.00 | NM_001846.4 | |
| COX10 | C | 100.00 | 100.00 | NM_001303.4 | |
| COX6B1 | C | 100.00 | 100.00 | NM_001863.5 | |
| CSF1R | C | 100.00 | 100.00 | NM_001288705.3 | |
| CST3 | C | 100.00 | 100.00 | NM_000099.4 | |
| CTC1 | C | 100.00 | 100.00 | NM_025099.6 | |
| CTSA | C | 100.00 | 100.00 | NM_000308.4 | |
| CYP27A1 | C | 100.00 | 100.00 | NM_000784.4 | |
| D2HGDH | C | 100.00 | 100.00 | NM_152783.5 | |
| DARS1 | C | 99.77 | 99.91 | NM_001349.4 | |
| DARS2 | C | 99.69 | 99.99 | NM_018122.5 | |
| DBT | C | 99.79 | 99.99 | NM_001918.5 | |
| DEGS1 | C | 100.00 | 100.00 | NM_003676.4 | |
| EARS2 | C | 99.98 | 100.00 | NM_001083614.2 | |
| EIF2B1 | C | 100.00 | 100.00 | NM_001414.4 | |
| EIF2B2 | C | 99.96 | 100.00 | NM_014239.4 | |
| EIF2B3 | C | 99.36 | 99.92 | NM_020365.5 | |
| EIF2B4 | C | 100.00 | 100.00 | NM_001034116.2 | |
| EIF2B5 | C | 100.00 | 100.00 | NM_003907.3 | |
| ELP1 | C | 100.00 | 100.00 | NM_003640.5 | |
| EPRS1 | C | 100.00 | 100.00 | NM_004446.3 | |
| ERCC2 | C | 100.00 | 100.00 | NM_000400.4 | |
| ERCC3 | C | 100.00 | 100.00 | NM_000122.2 | |
| ERCC6 | C | 99.99 | 100.00 | NM_000124.4 | |
| ERCC8 | C | 99.99 | 100.00 | NM_000082.4 | |
| FAH | C | 100.00 | 100.00 | NM_000137.4 | |
| FBXL4 | C | 100.00 | 100.00 | NM_001278716.2 | |
| FDX2 | C | 100.00 | 100.00 | NM_001031734.4 | |
| FIG4 | C | 99.99 | 100.00 | NM_014845.6 | |
| FOLR1 | C | 100.00 | 100.00 | NM_016729.3 | |
| FOXC1 | C | 98.8 | 99.66 | NM_001453.3 | |
| FUCA1 | C | 99.38 | 99.99 | NM_000147.5 | |
| GALC | C | 99.99 | 100.00 | NM_000153.4 | |
| GAN | C | 100.00 | 100.00 | NM_022041.4 | |
| GBE1 | C | 100.00 | 100.00 | NM_000158.4 | |
| GCDH | C | 100.00 | 100.00 | NM_000159.4 | |
| GCSH | C | 100.00 | 100.00 | NM_004483.5 | |
| GFAP | C | 100.00 | 100.00 | NM_002055.5 | |
| GJA1 | C | 100.00 | 100.00 | NM_000165.5 | |
| GJB1 | C | 100.00 | 100.00 | NM_000166.6 | |
| GJC2 | C | 99.66 | 99.97 | NM_020435.4 | |
| GLA | C | 100.00 | 100.00 | NM_000169.3 | |
| GLB1 | C | 100.00 | 100.00 | NM_000404.4 | |
| GLDC | C | 100.00 | 100.00 | NM_000170.3 | |
| GLRX5 | C | 99.89 | 100.00 | NM_016417.3 | |
| GM2A | C | 100.00 | 100.00 | NM_000405.5 | |
| GNPAT | C | 100.00 | 100.00 | NM_014236.4 | |
| GSN | C | 100.00 | 100.00 | NM_198252.3 | |
| GTF2H5 | C | 100.00 | 100.00 | NM_207118.3 | |
| HEPACAM | C | 100.00 | 100.00 | NM_152722.5 | |
| HEXA | C | 100.00 | 100.00 | NM_000520.6 | |
| HEXB | C | 99.99 | 100.00 | NM_000521.4 | |
| HIKESHI | C | 100.00 | 100.00 | NM_016401.4 | |
| HMBS | C | 100.00 | 100.00 | NM_000190.4 | |
| HMGCL | C | 99.63 | 99.98 | NM_000191.3 | |
| HSPD1 | C | 85.39 | 85.64 | NM_002156.5 | |
| HTRA1 | C | 99.56 | 99.88 | NM_002775.5 | |
| HYCC1 | |||||
| IBA57 | C | 99.96 | 100.00 | NM_001010867.4 | |
| IDH1 | C | 100.00 | 100.00 | NM_005896.4 | |
| IDH2 | C | 100.00 | 100.00 | NM_002168.4 | |
| IFIH1 | C | 100.00 | 100.00 | NM_022168.4 | |
| ISCA1 | C | 99.31 | 99.87 | NM_030940.4 | |
| ISCA2 | C | 100.00 | 100.00 | NM_194279.4 | |
| ISCU | C | 100.00 | 100.00 | NM_213595.4 | |
| ITM2B | C | 100.00 | 100.00 | NM_021999.5 | |
| KARS1 | C | 100.00 | 100.00 | NM_005548.3 | |
| L2HGDH | C | 100.00 | 100.00 | NM_024884.3 | |
| LAMA2 | C | 100.00 | 100.00 | NM_000426.4 | |
| LAMB1 | C | 100.00 | 100.00 | NM_002291.3 | |
| LARS2 | C | 100.00 | 100.00 | NM_015340.4 | |
| LIAS | C | 100.00 | 100.00 | NM_006859.4 | |
| LMBRD1 | C | 99.93 | 100.00 | NM_018368.4 | |
| LMNB1 | C | 100.00 | 100.00 | NM_005573.4 | |
| LSM11 | C | 100.00 | 100.00 | NM_173491.4 | |
| LYRM7 | C | 99.56 | 99.63 | NM_181705.4 | |
| MAT1A | C | 99.98 | 100.00 | NM_000429.3 | |
| MLC1 | C | 100.00 | 100.00 | NM_015166.4 | |
| MMACHC | C | 100.00 | 100.00 | NM_015506.3 | |
| MMADHC | C | 100.00 | 100.00 | NM_015702.3 | |
| MOG | C | 100.00 | 100.00 | NM_206809.4 | |
| MTFMT | C | 100.00 | 100.00 | NM_139242.4 | |
| MTHFR | C | 100.00 | 100.00 | NM_005957.5 | |
| MTR | C | 100.00 | 100.00 | NM_000254.3 | |
| MTRR | C | 100.00 | 100.00 | NM_002454.3 | |
| MYRF | C | 100.00 | 100.00 | NM_001127392.3 | |
| NDUFA2 | C | 100.00 | 100.00 | NM_002488.5 | |
| NDUFAF3 | C | 100.00 | 100.00 | NM_199069.2 | |
| NDUFS1 | C | 100.00 | 100.00 | NM_005006.7 | |
| NDUFS3 | C | 100.00 | 100.00 | NM_004551.3 | |
| NDUFS4 | C | 100.00 | 100.00 | NM_002495.4 | |
| NDUFS6 | C | 100.00 | 100.00 | NM_004553.6 | |
| NDUFS7 | C | 99.98 | 100.00 | NM_024407.5 | |
| NDUFS8 | C | 100.00 | 100.00 | NM_002496.4 | |
| NDUFV1 | C | 100.00 | 100.00 | NM_007103.4 | |
| NDUFV2 | C | 100.00 | 100.00 | NM_021074.5 | |
| NFU1 | C | 99.91 | 99.97 | NM_001002755.4 | |
| NKX6-2 | C | 99.86 | 100.00 | NM_177400.3 | |
| NOTCH1 | C | 99.97 | 99.99 | NM_017617.5 | |
| NOTCH3 | C | 99.97 | 100.00 | NM_000435.3 | |
| NUBPL | C | 99.92 | 100.00 | NM_025152.3 | |
| PCCA | C | 100.00 | 100.00 | NM_000282.4 | |
| PCCB | C | 100.00 | 100.00 | NM_000532.5 | |
| PEX1 | C | 99.92 | 99.99 | NM_000466.3 | |
| PEX10 | C | 100.00 | 100.00 | NM_002617.4 | |
| PEX12 | C | 100.00 | 100.00 | NM_000286.3 | |
| PEX13 | C | 100.00 | 100.00 | NM_002618.4 | |
| PEX14 | C | 99.94 | 99.99 | NM_004565.3 | |
| PEX16 | C | 100.00 | 100.00 | NM_004813.4 | |
| PEX19 | C | 99.87 | 100.00 | NM_002857.4 | |
| PEX2 | C | 100.00 | 100.00 | NM_000318.3 | |
| PEX26 | C | 100.00 | 100.00 | NM_001127649.3 | |
| PEX3 | C | 99.98 | 100.00 | NM_003630.3 | |
| 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 | |
| PHGDH | C | 99.94 | 99.99 | NM_006623.4 | |
| PHYH | C | 99.93 | 100.00 | NM_006214.4 | |
| PI4KA | C | 99.05 | 99.43 | NM_058004.4 | |
| PITX2 | C | 100.00 | 100.00 | NM_000325.6 | |
| PLP1 | C | 100.00 | 100.00 | NM_000533.5 | |
| POLR1A | C | 99.98 | 100.00 | NM_015425.6 | |
| POLR1C | C | 100.00 | 100.00 | NM_203290.4 | |
| POLR3A | C | 100.00 | 100.00 | NM_007055.4 | |
| POLR3B | C | 100.00 | 100.00 | NM_018082.6 | |
| POLR3D | C | 100.00 | 100.00 | NM_001722.3 | |
| POLR3K | C | 100.00 | 100.00 | NM_016310.5 | |
| PSAP | C | 100.00 | 100.00 | NM_002778.4 | |
| PSAT1 | C | 100.00 | 100.00 | NM_058179.4 | |
| RARS1 | C | 99.99 | 100.00 | NM_002887.4 | |
| RARS2 | C | 99.97 | 100.00 | NM_020320.5 | |
| RMND1 | C | 99.99 | 100.00 | NM_017909.4 | |
| RNASEH2A | C | 100.00 | 100.00 | NM_006397.3 | |
| RNASEH2B | C | 100.00 | 100.00 | NM_024570.4 | |
| RNASEH2C | C | 100.00 | 100.00 | NM_032193.4 | |
| RNASET2 | C | 100.00 | 100.00 | NM_003730.6 | |
| RPIA | C | 99.85 | 100.00 | NM_144563.3 | |
| SAMD9 | C | 100.00 | 100.00 | NM_017654.4 | |
| SAMD9L | C | 100.00 | 100.00 | NM_152703.5 | |
| SAMHD1 | C | 100.00 | 100.00 | NM_015474.4 | |
| SCO2 | C | 100.00 | 100.00 | NM_005138.3 | |
| SDHA | C | 99.98 | 100.00 | NM_004168.4 | |
| SDHAF1 | C | 100.00 | 100.00 | NM_001042631.3 | |
| SDHB | C | 99.62 | 100.00 | NM_003000.3 | |
| SLC16A2 | C | 100.00 | 100.00 | NM_006517.5 | |
| SLC17A5 | C | 99.97 | 100.00 | NM_012434.5 | |
| SLC19A3 | C | 100.00 | 100.00 | NM_025243.4 | |
| SLC1A4 | C | 99.94 | 99.98 | NM_003038.5 | |
| SLC25A1 | C | 99.92 | 100.00 | NM_005984.5 | |
| SLC25A12 | C | 99.98 | 100.00 | NM_003705.5 | |
| SNORD118 | |||||
| SOX10 | C | 100.00 | 100.00 | NM_006941.4 | |
| SPTAN1 | C | 100.00 | 100.00 | NM_001130438.3 | |
| SUMF1 | C | 100.00 | 100.00 | NM_182760.4 | |
| SURF1 | C | 100.00 | 100.00 | NM_003172.4 | |
| TMEM106B | C | 100.00 | 100.00 | NM_001134232.2 | |
| TMEM63A | C | 100.00 | 100.00 | NM_014698.3 | |
| TREM2 | C | 100.00 | 100.00 | NM_018965.4 | |
| TREX1 | C | 100.00 | 100.00 | NM_033629.6 | |
| TTR | C | 100.00 | 100.00 | NM_000371.4 | |
| TUBB4A | C | 100.00 | 100.00 | NM_006087.4 | |
| TYMP | C | 99.9 | 99.99 | NM_001953.5 | |
| TYROBP | C | 100.00 | 100.00 | NM_003332.4 | |
| UBA5 | C | 100.00 | 100.00 | NM_024818.6 | |
| UFM1 | C | 100.00 | 100.00 | NM_016617.4 | |
| VPS11 | C | 100.00 | 100.00 | NM_001378219.1 | |
| ZNF335 | C | 100.00 | 100.00 | NM_022095.4 |
| Indicatie(s) |
|---|
| Wittestofziekten |
** 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