Panel name | NGS White matter disease |
---|---|
Panel method | Wes-based NGS |
Panel version ** | v10 |
Panel quality *** | C |
Core-NL | No core-NL genes included |
CNV analysis | No |
Location | Location AMC |
Genes (197) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
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 |
Indication(s) |
---|
White Matter 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