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NGS Microcephaly

Panel name NGS Microcephaly
Panel method WES-based NGS
Panel version ** MCPHv3
Panel quality ***
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (137) Quality % coverage >30 % coverage >20 Core-NL Note
ADARB1
AGMO
AMPD2
ANKLE2
AP4M1
ARFGEF2
ASPM
ASXL1
ASXL3
ATR
ATRX
BLM
BRAT1
CARS1
CASK
CCDC88A
CDC6
CDK5RAP2
CDK6
CDKL5
CDT1
CENPE
CENPF
CENPF
CENPJ
CEP135
CEP152
CEP63
CIT
CKAP2L
COASY
COPB2
CREBBP
CRIPT
CTNNB1
DDX11
DDX3X
DHCR7
DIAPH1
DONSON
DYNC1I2
DYRK1A
EFTUD2
EIF2S3
EP300
ERCC6
ERCC8
FOXG1
HDAC8
IER3IP1
IGF1R
KAT6A
KATNB1
KIF11
KIF14
KIF1A
KIFBP
KMT2D
KNL1
LARP7
LIG4
LMNB1
MCPH1
MECP2
MED17
METTL5
MFSD2A
MSMO1
MYCN
NBN
NDE1
NHEJ1
NIN
NIPBL
ORC1
ORC4
ORC6
OSGEP
PCNT
PDHA1
PHC1
PLK4
PNKP
PPP1R15B
PQBP1
PRUNE1
PYCR2
QARS1
RAB18
RAB3GAP1
RAB3GAP2
RAD50
RBBP8
RNASEH2C
RTTN
SASS6
SEPSECS
SHMT2
SLC1A4
SLC25A19
SLC2A1
SLC9A6
SLF2
SMC5
SMPD4
SNAP29
SOX11
SPATA5
STAMBP
STIL
TBC1D20
TCF4
TMX2
TRAIP
TRAPPC9
TRMT10A
TSEN2
TSEN34
TSEN54
TUBA1A
TUBB3
TUBGCP2
TUBGCP4
TUBGCP6
UBA5
UBE3A
UFC1
UFM1
VPS13B
WDFY3
WDR62
WDR73
WWOX
XRCC4
ZEB2
ZNF335
ZNHIT3
Indication(s)
Microcephaly

** 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


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