NGS Wittestofziekten

Panel naam	NGS Wittestofziekten
Panel methode	WES-based NGS
Panel versie **	v11
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Ja
Locatie	Locatie AMC

Genen (217)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AARS1	C	100	100
AARS2	C	99.99	100
ABCD1	C	99.99	100
ACAN	C	86.59	86.74
ADAR	C	100	100
ADGRG1	C	99.94	100
AGPS	C	100	100
AIFM1	C	100	100
AIMP1	C	99.96	100
AIMP2	C	99.85	99.86
ALDH3A2	C	99.98	100
AMT	C	100	100
APP	C	100	100
AQP4	C	100	100
ARSA	C	100	100
ASPA	C	100	100
ATAD3A	C	99.51	99.84
ATAD3B	C	98.8	99.45
ATN1	C	100	100
ATRN	C	100	100
ATRX	C	99.92	99.99
AUH	C	100	100
BCAP31	C	99.78	99.91
BCKDHA	C	100	100
BCKDHB	C	100	100
BOLA3	C	99.96	100
BPIFA2	C	100	100
C1R	C	93.65	94.84
CBS	C	100	100
CLCN2	C	100	100
CLDN11	C	100	100
CLPP	C	100	100
CNP	C	99.98	99.98
CNTNAP1	C	99.98	99.99
COA8	C	100	100
COL4A1	C	99.99	100
COL4A2	C	100	100
COLGALT1	C	99.89	99.94
COX10	C	100	100
COX6B1	C	100	100
CSF1R	C	100	100
CST3	C	100	100
CTC1	C	100	100
CTSA	C	100	100
CYP27A1	C	100	100
D2HGDH	C	100	100
DARS1	C	99.77	99.91
DARS2	C	99.69	99.99
DBT	C	99.79	99.99
DEGS1	C	100	100
EARS2	C	99.98	100
EIF2B1	C	100	100
EIF2B2	C	99.96	100
EIF2B3	C	99.36	99.92
EIF2B4	C	100	100
EIF2B5	C	100	100
ELP1	C	100	100
EPRS1	C	100	100
ERCC2	C	100	100
ERCC3	C	100	100
ERCC6	C	99.99	100
ERCC8	C	99.99	100
FAH	C	100	100
FBXL4	C	100	100
FDX2	C	100	100
FIG4	C	99.99	100
FOLR1	C	100	100
FOXC1	C	98.8	99.67
FUCA1	C	99.38	99.99
GALC	C	99.99	100
GAN	C	100	100
GBE1	C	100	100
GCDH	C	100	100
GCSH	C	100	100
GFAP	C	100	100
GJA1	C	100	100
GJB1	C	100	100
GJC2	C	99.66	99.97
GLA	C	100	100
GLB1	C	100	100
GLDC	C	100	100
GLRX5	C	99.89	100
GM2A	C	100	100
GNPAT	C	100	100
GPRC5B	C	99.96	100
GSN	C	100	100
GTF2H5	C	100	100
HEPACAM	C	100	100
HEXA	C	100	100
HEXB	C	99.99	100
HIKESHI	C	100	100
HMBS	C	100	100
HMGCL	C	99.63	99.98
HSPD1	C	85.39	85.64
HTRA1	C	99.56	99.88
HYCC1	C	100	100
IBA57	C	99.97	100
IDH1	C	100	100
IDH2	C	100	100
IFIH1	C	100	100
IKBKG	C	22.34	26.3
ISCA1	C	99.31	99.87
ISCA2	C	100	100
ITM2B	C	100	100
KARS1	C	100	100
KIF1C	C	100	100
L2HGDH	C	100	100
LAMA2	C	100	100
LAMB1	C	100	100
LARS2	C	100	100
LIAS	C	100	100
LMBRD1	C	99.93	100
LMNB1	C	100	100
LSM11	C	100	100
LYRM7	C	99.56	99.63
MAL	C	99.99	100
MAT1A	C	99.98	100
MLC1	C	100	100
MMACHC	C	100	100
MMADHC	C	100	100
MOG	C	100	100
MTFMT	C	100	100
MTHFR	C	100	100
MTR	C	100	100
MTRR	C	100	100
MYRF	C	100	100
NDUFA2	C	100	100
NDUFA3	C	100	100
NDUFS1	C	100	100
NDUFS3	C	100	100
NDUFS4	C	100	100
NDUFS6	C	100	100
NDUFS7	C	99.98	100
NDUFS8	C	100	100
NDUFV1	C	100	100
NDUFV2	C	100	100
NFU1	C	99.91	99.97
NKX6-2	C	99.86	100
NOTCH1	C	99.97	99.99
NOTCH3	C	99.97	100
NUBPL	C	99.92	100
ORC3	C	99.97	100
PCCA	C	100	100
PCCB	C	100	100
PDGFB	C	100	100
PEX1	C	99.92	99.99
PEX10	C	100	100
PEX12	C	100	100
PEX13	C	100	100
PEX14	C	99.94	99.99
PEX16	C	100	100
PEX19	C	99.87	100
PEX2	C	100	100
PEX26	C	100	100
PEX3	C	99.98	100
PEX5	C	100	100
PEX6	C	100	100
PEX7	C	100	100
PHGDH	C	99.94	99.99
PHYH	C	99.93	100
PI4KA	C	99.06	99.43
PITX2	C	100	100
PLP1	C	100	100
POLR1A	C	99.98	100
POLR1C	C	100	100
POLR3A	C	100	100
POLR3B	C	100	100
POLR3D	C	100	100
POLR3K	C	100	100
PPOX	C	99.85	99.99
PSAP	C	100	100
PSAT1	C	100	100
PYCR2	C	99.92	100
RARS1	C	99.98	100
RARS2	C	99.97	100
RMND1	C	99.99	100
RNASEH2A	C	100	100
RNASEH2B	C	100	100
RNASEH2C	C	100	100
RNASET2	C	100	100
RNU7-1	C	NA	NA
RPIA	C	99.85	100
SAMD9	C	100	100
SAMD9L	C	100	100
SAMHD1	C	100	100
SCO2	C	100	100
SDHA	C	99.98	100
SDHAF1	C	100	100
SDHB	C	99.62	100
SLC16A2	C	100	100
SLC17A5	C	99.97	100
SLC19A3	C	100	100
SLC1A4	C	99.94	99.98
SLC25A1	C	99.92	100
SLC35B2	C	100	100
SLC4A4	C	100	100
SNAP29	C	100	100
SNORD118	C	NA	NA
SOX10	C	100	100
SPTAN1	C	100	100
SUMF1	C	100	100
SURF1	C	100	100
TACO1	C	100	100
TBCE	C	99.99	100
TMEM106B	C	100	100
TMEM163	C	98.75	99.46
TMEM63A	C	100	100
TREM2	C	100	100
TREX1	C	100	100
TTR	C	100	100
TUBB4A	C	100	100
TYMP	C	99.9	99.99
TYROBP	C	100	100
UBA5	C	100	100
UFM1	C	100	100
VPS11	C	100	100
ZNF335	C	100	100

Indicatie(s)
Aicardi-Goutières syndroom
Cerebroretinal microangiopathy met calcificaties en cysten CTC1
Hypomyelinating leukodystrophy

** 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