Panel name | NGS Hereditary cancer panel 2 |
---|---|
Panel method | Wes-based NGS |
Panel version ** | v7.1 |
Panel quality *** | C |
Core-NL | No core-NL genes included |
CNV analysis | No |
Location | Location VUmc |
Genes (155) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
---|---|---|---|---|---|
ABRAXAS1 | C | 99.99 | 100.00 | NM_139076.3 | |
ACD | C | 100.00 | 100.00 | NM_001082486.2 | |
AIP | C | 100.00 | 100.00 | NM_003977.2 | |
AKT1 | C | 100.00 | 100.00 | NM_001382430.1 | |
ALK | C | 100.00 | 100.00 | NM_004304.5 | |
ANKRD26 | C | 98.02 | 98.03 | NM_014915.3 | |
APC | C | 100.00 | 100.00 | NM_000038.6 | |
ATM | C | 100.00 | 100.00 | NM_001351834.2 | |
AXIN2 | C | 100.00 | 100.00 | NM_004655.4 | |
BAP1 | C | 100.00 | 100.00 | NM_004656.4 | |
BARD1 | C | 100.00 | 100.00 | NM_000465.4 | |
BLM | C | 100.00 | 100.00 | NM_000057.4 | |
BMPR1A | C | 99.93 | 100.00 | NM_004329.3 | |
BRCA1 | C | 99.99 | 100.00 | NM_007294.4 | |
BRCA2 | C | 100.00 | 100.00 | NM_000059.4 | |
BRIP1 | C | 99.99 | 100.00 | NM_032043.3 | |
BUB1B | C | 100.00 | 100.00 | NM_001211.6 | |
BUB3 | C | 100.00 | 100.00 | NM_004725.4 | |
CBL | C | 100.00 | 100.00 | NM_005188.4 | |
CDC73 | C | 100.00 | 100.00 | NM_024529.5 | |
CDH1 | C | 100.00 | 100.00 | NM_004360.5 | |
CDK4 | C | 100.00 | 100.00 | NM_000075.4 | |
CDKN1A | C | 100.00 | 100.00 | NM_000389.5 | |
CDKN1B | C | 100.00 | 100.00 | NM_004064.5 | |
CDKN1C | C | 94.92 | 98.33 | NM_001122630.2 | |
CDKN2A | C | 100.00 | 100.00 | NM_000077.5 | |
CDKN2B | C | 100.00 | 100.00 | NM_004936.4 | |
CDKN2C | C | 99.82 | 100.00 | NM_078626.3 | |
CEBPA | C | 99.62 | 99.97 | NM_004364.5 | |
CHEK2 | C | 100.00 | 100.00 | NM_007194.4 | |
CTC1 | C | 100.00 | 100.00 | NM_025099.6 | |
CTNNA1 | C | 100.00 | 100.00 | NM_001903.5 | |
CTR9 | C | 100.00 | 100.00 | NM_014633.5 | |
CYLD | C | 99.96 | 100.00 | NM_001378743.1 | |
DDB2 | C | 100.00 | 100.00 | NM_000107.2 | |
DDX41 | C | 100.00 | 100.00 | NM_016222.4 | |
DICER1 | C | 100.00 | 100.00 | NM_177438.3 | |
DIS3L2 | C | 100.00 | 100.00 | NM_152383.5 | |
DKC1 | C | 99.7 | 99.92 | NM_001363.5 | |
DOCK8 | C | 100.00 | 100.00 | NM_203447.4 | |
EGFR | C | 99.93 | 100.00 | NM_005228.5 | |
EPCAM | C | 99.99 | 100.00 | NM_002354.3 | |
ERCC2 | C | 100.00 | 100.00 | NM_000400.4 | |
ERCC3 | C | 100.00 | 100.00 | NM_000122.2 | |
ERCC4 | C | 99.99 | 100.00 | NM_005236.3 | |
ERCC5 | C | 100.00 | 100.00 | NM_000123.4 | |
ETV6 | C | 100.00 | 100.00 | NM_001987.5 | |
EXT1 | C | 100.00 | 100.00 | NM_000127.3 | |
EXT2 | C | 100.00 | 100.00 | NM_207122.2 | |
FAAP100 | C | 100.00 | 100.00 | NM_025161.6 | |
FAH | C | 100.00 | 100.00 | NM_000137.4 | |
FAN1 | C | 100.00 | 100.00 | NM_014967.5 | |
FANCA | C | 100.00 | 100.00 | NM_000135.4 | |
FANCB | C | 100.00 | 100.00 | NM_001018113.3 | |
FANCC | C | 100.00 | 100.00 | NM_000136.3 | |
FANCD2 | C | 99.98 | 100.00 | NM_001018115.3 | |
FANCE | C | 100.00 | 100.00 | NM_021922.3 | |
FANCF | C | 100.00 | 100.00 | NM_022725.4 | |
FANCG | C | 100.00 | 100.00 | NM_004629.2 | |
FANCI | C | 100.00 | 100.00 | NM_001376911.1 | |
FANCL | C | 99.94 | 99.95 | NM_018062.4 | |
FANCM | C | 100.00 | 100.00 | NM_020937.4 | |
FAS | C | 100.00 | 100.00 | NM_000043.6 | |
FH | C | 100.00 | 100.00 | NM_000143.4 | |
FLCN | C | 99.91 | 100.00 | NM_144997.7 | |
GALNT12 | C | 98.18 | 99.54 | NM_024642.5 | |
GATA2 | C | 100.00 | 100.00 | NM_032638.5 | |
GPC3 | C | 100.00 | 100.00 | NM_004484.4 | |
GREM1 | C | 100.00 | 100.00 | NM_013372.7 | |
HMBS | C | 100.00 | 100.00 | NM_000190.4 | |
HOXB13 | C | 100.00 | 100.00 | NM_006361.6 | |
IPMK | C | 100.00 | 100.00 | NM_152230.5 | |
ITK | C | 100.00 | 100.00 | NM_005546.4 | |
KIT | C | 99.99 | 100.00 | NM_000222.3 | |
LZTR1 | C | 98.92 | 99.83 | NM_006767.4 | |
MAD2L2 | C | 99.91 | 99.98 | NM_006341.4 | |
MAX | C | 100.00 | 100.00 | NM_002382.5 | |
MBD4 | C | 100.00 | 100.00 | NM_001276270.2 | |
MCM9 | C | 100.00 | 100.00 | NM_017696.3 | |
MEN1 | C | 100.00 | 100.00 | NM_001370259.2 | |
MET | C | 100.00 | 100.00 | NM_000245.4 | |
MITF | C | 100.00 | 100.00 | NM_001354604.2 | |
MLH1 | C | 99.95 | 100.00 | NM_000249.4 | |
MLH3 | C | 100.00 | 100.00 | NM_001040108.2 | |
MSH2 | C | 99.86 | 99.98 | NM_000251.3 | |
MSH3 | C | 99.96 | 100.00 | NM_002439.5 | |
MSH6 | C | 100.00 | 100.00 | NM_000179.3 | |
MTAP | C | 100.00 | 100.00 | NM_002451.4 | |
MUTYH | C | 100.00 | 100.00 | NM_001048174.2 | |
NBN | C | 99.99 | 100.00 | NM_002485.5 | |
NF1 | C | 97.52 | 97.54 | NM_001042492.3 | |
NF2 | C | 100.00 | 100.00 | NM_000268.4 | |
NSD1 | C | 100.00 | 100.00 | NM_022455.5 | |
NTHL1 | C | 99.96 | 100.00 | NM_002528.7 | |
PALB2 | C | 99.99 | 100.00 | NM_024675.4 | |
PAX5 | C | 99.97 | 100.00 | NM_016734.3 | |
PDGFRA | C | 100.00 | 100.00 | NM_006206.6 | |
PHOX2B | C | 95.3 | 98.4 | NM_003924.4 | |
PIK3CA | C | 100.00 | 100.00 | NM_006218.4 | |
PMS2 | C | 78 | 78.84 | NM_000535.7 | |
POLD1 | C | 99.99 | 100.00 | NM_002691.4 | |
POLE | C | 99.99 | 100.00 | NM_006231.4 | |
POLH | C | 100.00 | 100.00 | NM_006502.3 | |
POT1 | C | 100.00 | 100.00 | NM_015450.3 | |
PRDM10 | C | 100.00 | 100.00 | NM_199437.2 | |
PRF1 | C | 100.00 | 100.00 | NM_001083116.3 | |
PRKAR1A | C | 100.00 | 100.00 | NM_002734.5 | |
PTCH1 | C | 100.00 | 100.00 | NM_000264.5 | |
PTCH2 | C | 99.3 | 99.89 | NM_003738.5 | |
PTEN | C | 100.00 | 100.00 | NM_000314.8 | |
PTPN11 | C | 100.00 | 100.00 | NM_002834.5 | |
RAD50 | C | 99.98 | 100.00 | NM_005732.4 | |
RAD51 | C | 100.00 | 100.00 | NM_002875.5 | |
RAD51C | C | 99.99 | 100.00 | NM_058216.3 | |
RAD51D | C | 100.00 | 100.00 | NM_002878.4 | |
RB1 | C | 99.98 | 100.00 | NM_000321.3 | |
RECQL4 | C | 100.00 | 100.00 | NM_004260.4 | |
REST | C | 100.00 | 100.00 | NM_005612.5 | |
RET | C | 100.00 | 100.00 | NM_020975.6 | |
RHBDF2 | C | 100.00 | 100.00 | NM_001005498.4 | |
RMRP | |||||
RNF139 | C | 100.00 | 100.00 | NM_007218.4 | |
RNF43 | C | 100.00 | 100.00 | NM_017763.6 | |
RUNX1 | C | 100.00 | 100.00 | NM_001754.5 | |
SBDS | C | 100.00 | 100.00 | NM_016038.4 | |
SDHA | C | 99.98 | 100.00 | NM_004168.4 | |
SDHAF2 | C | 100.00 | 100.00 | NM_017841.4 | |
SDHB | C | 99.62 | 100.00 | NM_003000.3 | |
SDHC | C | 100.00 | 100.00 | NM_003001.5 | |
SDHD | C | 100.00 | 100.00 | NM_003002.4 | |
SH2D1A | C | 99.9 | 100.00 | NM_002351.5 | |
SLX4 | C | 100.00 | 100.00 | NM_032444.4 | |
SMAD4 | C | 100.00 | 100.00 | NM_005359.6 | |
SMARCA4 | C | 99.99 | 100.00 | NM_003072.5 | |
SMARCB1 | C | 100.00 | 100.00 | NM_003073.5 | |
SMARCE1 | C | 100.00 | 100.00 | NM_003079.5 | |
SOS1 | C | 99.99 | 100.00 | NM_005633.4 | |
SPRED1 | C | 100.00 | 100.00 | NM_152594.3 | |
STK11 | C | 100.00 | 100.00 | NM_000455.5 | |
SUFU | C | 100.00 | 100.00 | NM_016169.4 | |
TERF2IP | C | 100.00 | 100.00 | NM_018975.4 | |
TERT | C | 100.00 | 100.00 | NM_198253.3 | |
TMEM127 | C | 100.00 | 100.00 | NM_017849.4 | |
TP53 | C | 100.00 | 100.00 | NM_000546.6 | |
TRIM37 | C | 99.89 | 99.99 | NM_015294.6 | |
TRIP13 | C | 100.00 | 100.00 | NM_004237.4 | |
TSC1 | C | 100.00 | 100.00 | NM_000368.5 | |
TSC2 | C | 99.98 | 99.99 | NM_000548.5 | |
VHL | C | 100.00 | 100.00 | NM_000551.4 | |
WAS | C | 99.81 | 100.00 | NM_000377.3 | |
WRN | C | 100.00 | 100.00 | NM_000553.6 | |
WT1 | C | 99.92 | 100.00 | NM_024426.6 | |
XPA | C | 100.00 | 100.00 | NM_000380.4 | |
XPC | C | 100.00 | 100.00 | NM_004628.5 | |
XRCC2 | C | 100.00 | 100.00 | NM_005431.2 |
Indication(s) |
---|
Tumor syndromes |
** 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