NGS Wittestofziekten

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