NGS Microcefalie

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