FLCN |

Analyte Export to PDF
Name:	folliculin
Symbol:	FLCN
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	BHD DENND8B MGC17998 MGC23445
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (148genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ADAMTS9	100.00	1	NM_182920.2
ALG8	100.00	1	NM_024079.5
ANKS6	100.00	1	NM_173551.5
ARL6	100.00	1	NM_001278293.3
BBIP1	100.00	1	NM_001195305.3
BBS1	100.00	1	NM_024649.5
BBS10	100.00	1	NM_024685.4
BBS12	100.00	1	NM_152618.3
BBS2	100.00	1	NM_031885.5
BBS4	100.00	1	NM_033028.5
BBS5	100.00	1	NM_152384.3
BBS7	100.00	1	NM_176824.3
BBS9	100.00	1	NM_198428.3
CDC73	100.00	1	NM_024529.5
CEP164	100.00	1	NM_014956.5
CEP290	100.00	1	NM_025114.4
CEP83	100.00	1	NM_016122.3
COL4A1	100.00	1	NM_001845.6
COL4A3	100.00	1	NM_000091.5
COL4A4	100.00	1	NM_000092.5
COL4A5	100.00	1	NM_033380.3
DCDC2	100.00	1	NM_016356.5
DNAJB11	100.00	1	NM_016306.6
DZIP1L	100.00	1	NM_173543.3
EYA1	100.00	1	NM_000503.6
FAN1	100.00	1	NM_014967.5
FH	100.00	1	NM_000143.4
FLCN	100.00	1	NM_144997.7
GANAB	100.00	1	NM_198334.3
GATA3	100.00	1	NM_001002295.2
GATM	100.00	1	NM_001482.3
GLIS2	100.00	1	NM_032575.3
HNF1B	100.00	1	NM_000458.4
IFT172	100.00	1	NM_015662.3
IFT27	100.00	1	NM_001177701.3
INVS	100.00	1	NM_014425.5
IQCB1	100.00	1	NM_001023570.4
LRP5	100.00	1	NM_002335.4
LRP6	100.00	1	NM_002336.3
LZTFL1	100.00	1	NM_020347.4
MAPKBP1	100.00	1	NM_014994.3
MET	100.00	1	NM_000245.4
MKKS	100.00	1	NM_170784.3
MKS1	100.00	1	NM_017777.4
NEK8	100.00	1	NM_178170.3
NOTCH2	99.00	1	NM_024408.4
NPHP1	100.00	1	NM_001128178.3
NPHP3	100.00	1	NM_153240.5
NPHP4	100.00	1	NM_015102.5
OFD1	100.00	1	NM_003611.3
PAX2	100.00	1	NM_000278.5
PKD1	100.00	1	NM_001009944.3
PKD2	100.00	1	NM_000297.4
PKHD1	100.00	1	NM_138694.4
PMM2	0.00	1	NM_000303.2 une seule position
PRKCSH	100.00	1	NM_001289104.2
PTEN	100.00	1	NM_000314.8
REN	100.00	1	NM_000537.4
RPGRIP1L	96.00	1	NM_015272.5
SDCCAG8	100.00	1	NM_006642.5
SDHB	100.00	1	NM_003000.3
SDHD	100.00	1	NM_003002.4
SEC61A1	100.00	1	NM_013336.4
SEC63	100.00	1	NM_007214.5
TMEM67	100.00	1	NM_153704.6
TRIM32	100.00	1	NM_012210.4
TSC1	100.00	1	NM_000368.5
TSC2	100.00	1	NM_000548.5
TTC21B	100.00	1	NM_024753.5
TTC8	100.00	1	NM_144596.4
UMOD	100.00	1	NM_003361.4
VHL	100.00	1	NM_000551.4
WDPCP	100.00	1	NM_015910.7
WDR19	100.00	1	NM_025132.4
XPNPEP3	100.00	1	NM_022098.4
ZNF423	100.00	1	NM_001379286.1
AHI1	100.00	1	NM_001134831.2
ALG5	100.00	1	NM_013338.5
ALG9	100.00	1	NM_024740.2
ARL13B	100.00	1	NM_001174150.2
ARL3	100.00	1	NM_004311.4
ARMC9	100.00	1	NM_001352754.2
ATXN10	100.00	1	NM_013236.4
B9D1	100.00	1	NM_015681.6
B9D2	100.00	1	NM_030578.4
BAP1	100.00	1	NM_004656.4
C2CD3	100.00	1	NM_001286577.2
CC2D2A	100.00	1	NM_001378615.1
CCDC28B	100.00	1	NM_024296.5
CEP104	100.00	1	NM_014704.4
CEP120	100.00	1	NM_001375405.1
CEP41	100.00	1	NM_018718.3
CFAP418	100.00	1	NM_177965.4
CPLANE1	100.00	1	NM_001384732.1
CSPP1	100.00	1	NM_001382391.1
CYP24A1	100.00	1	NM_000782.5
DLG5	100.00	1	NM_004747.4
DYNC2H1	100.00	1	NM_001377.3
DYNC2I1	100.00	1	NM_018051.5
DYNC2I2	100.00	1	NM_052844.4
DYNC2LI1	100.00	1	NM_016008.4
DYNLT2B	100.00	1	NM_152773.5
EVC	100.00	1	NM_153717.3
EVC2	100.00	1	NM_147127.5
FAM149B1	100.00	1	NM_173348.2
HNF1A	100.00	1	NM_000545.8
HYLS1	100.00	1	NM_001134793.2
IFT122	100.00	1	NM_052989.3
IFT140	100.00	1	NM_014714.4
IFT43	100.00	1	NM_001102564.3
IFT52	100.00	1	NM_016004.5
IFT74	100.00	1	NM_025103.4
IFT80	100.00	1	NM_020800.3
IFT81	100.00	1	NM_014055.4
INPP5E	100.00	1	NM_019892.6
INTU	100.00	1	NM_015693.4
JAG1	100.00	1	NM_000214.3
KATNIP	100.00	1	NM_015202.5
KIAA0586	100.00	1	NM_001329943.3
KIAA0753	100.00	1	NM_014804.3
KIF14	100.00	1	NM_014875.3
KIF7	100.00	1	NM_198525.3
NEK1	100.00	1	NM_001199397.3
PARN	100.00	1	NM_002582.4
PDE6D	100.00	1	NM_002601.4
PIBF1	100.00	1	NM_006346.4
POC1B	100.00	1	NM_172240.3
RNF139	100.00	1	NM_007218.4
SDHA	100.00	1	NM_004168.4
SDHC	100.00	1	NM_003001.5
SEC61B	100.00	1	NM_006808.3
SLC41A1	100.00	1	NM_173854.6
SREBF1	100.00	1	NM_004176.5
SUFU	100.00	1	NM_016169.4
TCTN1	100.00	1	NM_001082538.3
TCTN2	100.00	1	NM_024809.5
TCTN3	100.00	1	NM_015631.6
TFAP2A	100.00	1	NM_001372066.1
TMEM107	100.00	1	NM_183065.4
TMEM138	100.00	1	NM_016464.5
TMEM216	100.00	1	NM_001173990.3
TMEM218	100.00	1	NM_001258244.2
TMEM231	100.00	1	NM_001077418.3
TMEM237	100.00	1	NM_001044385.3
TOGARAM1	100.00	1	NM_001308120.2
TRAF3IP1	100.00	1	NM_015650.4
TXNDC15	100.00	1	NM_024715.4
WDR35	100.00	1	NM_020779.4

Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	100.00
AAGAB	97.88
ABCA12	100.00
ABCB6	100.00
ABCC6	99.97
ABHD5	100.00
ACD	100.00
ADAM10	100.00
ADAMTS2	95.82
ADAR	100.00
AIM1	100.00
AKT1	100.00
ALDH18A1	100.00
ALDH3A2	99.94
ALOX12B	100.00
ALOXE3	100.00
ANTXR1	100.00
AP1S1	100.00
AP3B1	100.00
APCDD1	99.97
AQP5	99.87
ARHGAP31	100.00
ARSL	99.95
ASAH1	100.00
ATM	100.00
ATP2A2	100.00
ATP2C1	100.00
ATP6V0A2	99.98
ATP6V1A	100.00
ATP6V1E1	99.99
ATP7A	100.00
AXIN2	100.00
B3GALT6	63.11
B4GALT7	90.91
BANF1	97.55
BCS1L	100.00
BLM	100.00
BLOC1S3	95.69
BLOC1S6	100.00
BRAF	96.86
LRMDA	100.00
KDF1	100.00
CARD14	99.96
CBL	100.00
CBS	99.92
CD151	99.99
CDH3	100.00
CDK4	100.00
CDKN1B	100.00
CDKN2A	99.69
CDSN	99.93
CERS3	100.00
CHST14	99.81
CHST8	100.00
CHUK	99.59
CLCF1	100.00
CLDN1	100.00
CLDN10	100.00
COG6	100.00
COL11A1	100.00
COL12A1	100.00
COL17A1	100.00
COL1A1	100.00
COL1A2	99.41
COL3A1	99.99
COL5A1	98.23
COL5A2	100.00
COL7A1	100.00
CREBBP	99.98
CRLF1	89.67
CSTA	100.00
CTC1	99.71
CTSC	100.00
CYLD	100.00
CYP26C1	97.30
CYP4F22	99.27
DDB2	100.00
DIP2B	99.71
DKC1	99.92
DLL4	100.00
DLX3	99.95
DNMT1	99.69
DOCK6	99.13
DOLK	100.00
DSC3	98.96
DSE	100.00
DSG1	100.00
DSG2	99.89
DSG4	100.00
DSP	100.00
DST	100.00
DTNBP1	99.96
GLB1	100.00
ECM1	100.00
EDA	99.05
EDAR	100.00
EDARADD	100.00
EDN3	99.95
EDNRB	100.00
EFEMP2	100.00
ELN	99.96
ELOVL4	100.00
ENPP1	97.25
EOGT	100.00
EP300	100.00
EPG5	99.99
ERCC2	99.35
ERCC3	100.00
ERCC4	99.99
ERCC5	100.00
ERCC6	100.00
ERCC8	100.00
EVC	94.53
EVC2	98.69
EXPH5	100.00
F12	99.81
FAM111B	100.00
RETREG1	93.87
FAM83G	100.00
FBLN5	100.00
FBN1	100.00
FBN2	100.00
FERMT1	99.96
FGFR2	100.00
FGFR3	99.36
FH	100.00
FKBP14	100.00
FLCN	100.00
FGFR1	100.00
FLG2	100.00
FOXN1	100.00
FZD6	100.00
GALNT3	100.00
GAN	98.95
GBA1	100.00
GGCX	99.91
GHR	99.21
GJA1	100.00
GJB2	100.00
GJB3	100.00
GJB4	100.00
GJB6	100.00
GLA	100.00
GNAS	100.00
GORAB	100.00
GPR143	89.17
GRHL2	100.00
GSN	97.95
GTF2E2	100.00
GTF2H5	100.00
HAMP	100.00
HCCS	100.00
HDAC8	99.82
HFE	100.00
HJV	100.00
HGD	100.00
HLCS	100.00
HOXC13	96.56
HPGD	99.87
HPS1	100.00
HPS3	99.99
HPS4	99.99
HPS5	100.00
HPS6	96.32
HR	99.78
HRAS	100.00
IFT122	99.99
IFT43	100.00
ELP1	100.00
IKBKG	96.27
IL31RA	100.00
INSR	96.81
ITGA3	99.99
ITGA6	100.00
ITGB4	98.77
JUP	100.00
KANK2	99.99
KCNH1	100.00
KCTD1	100.00
KDM6A	99.63
KDSR	99.98
KIF1A	99.07
KIT	99.98
KITLG	100.00
KL	96.52
KLHL24	100.00
KLLN	100.00
KMT2D	99.99
KRAS	100.00
KREMEN1	92.10
KRT1	99.80
KRT10	99.93
KRT14	100.00
KRT16	99.48
KRT17	92.10
KRT2	100.00
KRT5	100.00
KRT6A	100.00
KRT6B	100.00
KRT6C	99.44
KRT71	99.95
KRT74	99.99
KRT81	100.00
KRT83	99.99
KRT85	99.27
KRT86	99.98
KRT9	100.00
LAMA4	99.75
LAMB3	100.00
LAMC2	99.43
LEMD3	99.97
LIPH	100.00
LIPN	100.00
LMNA	99.52
LMX1B	99.55
LORICRIN	100.00
LPAR6	100.00
LRP1	100.00
LTBP4	99.49
LYST	100.00
LZTR1	99.92
MAP2K1	100.00
MAP2K2	99.99
MAPRE2	100.00
MBTPS2	100.00
MC1R	100.00
MEN1	99.83
MITF	100.00
MLH1	99.99
MLPH	100.00
MMP1	99.99
MMP2	99.93
MPDU1	100.00
MPLKIP	100.00
MSH2	100.00
MSH6	99.92
MSMO1	100.00
MSX1	99.53
MUTYH	100.00
MYO5A	99.78
NF1	98.85
NF2	99.97
NFKBIA	99.97
NGF	100.00
NHP2	100.00
NIPAL4	100.00
NIPBL	99.62
RMRP	100.00
NOP10	100.00
NOTCH1	98.81
NRAS	100.00
NSDHL	100.00
NTRK1	98.91
OCA2	99.73
OFD1	97.68
ORAI1	93.55
OSMR	100.00
PADI3	100.00
PARN	100.00
PAX3	100.00
PDGFRB	100.00
PEX7	96.12
PHYH	99.87
PIGL	100.00
PIK3CA	100.00
PKP1	100.00
PLCD1	99.74
PLEC	99.33
PLOD1	98.77
PLOD3	99.97
PMS2	98.83
PNPLA1	99.66
POFUT1	99.99
POGLUT1	100.00
POLD1	99.84
POLH	100.00
NT5C3A	100.00
PORCN	99.13
PPP1CB	100.00
PRDM12	83.27
PRDM5	100.00
PRKAR1A	100.00
PRKD1	97.12
PSAT1	99.73
PSENEN	100.00
PTCH1	99.03
PTCH2	100.00
PTDSS1	100.00
PTEN	99.64
PTPN11	94.81
NECTIN1	99.68
NECTIN4	99.41
PYCR1	100.00
RAB27A	100.00
RAD21	100.00
RAF1	100.00
RASA2	99.74
RBPJ	99.69
RECQL4	96.90
RET	96.88
RHBDF2	100.00
RIN2	100.00
RIPK4	99.98
RIT1	100.00
RNF113A	100.00
RPL21	84.30
RRAS	98.63
RSPO1	100.00
RTEL1	100.00
SASH1	99.88
SCN11A	99.99
SCN9A	99.99
SDHB	99.35
SDHD	99.95
SEC23B	100.00
SERPINB7	100.00
SERPINB8	100.00
SERPING1	97.68
SETBP1	100.00
SGPL1	100.00
SHOC2	100.00
HHAT	93.18
SKIC2	100.00
SLC24A5	100.00
SLC27A4	99.97
SLC29A3	95.73
SLC2A10	97.06
SLC39A13	100.00
SLC39A4	100.00
SLC45A2	100.00
SLC6A19	99.99
SLURP1	100.00
SMAD3	100.00
SMARCAD1	99.97
SMARCB1	100.00
SMC3	100.00
SMPD1	100.00
SNAI2	100.00
SNAP29	100.00
SNRPE	99.04
SOS1	100.00
SOS2	99.97
SOX10	97.31
SPINK5	100.00
SPRED1	100.00
SPRY1	100.00
SPTLC1	99.44
SRD5A3	98.97
ST14	99.95
STK11	99.81
STS	99.94
SUFU	100.00
SULT2B1	100.00
SUMF1	100.00
TAT	100.00
TCHH	100.00
TERT	93.51
TFR2	100.00
TGFB2	99.97
TGFB3	100.00
TGFBR1	91.97
TGFBR2	100.00
TGM1	100.00
TGM3	100.00
TGM5	100.00
TINF2	99.96
TMC6	99.87
TNXB	100.00
TP63	100.00
TRPS1	100.00
TRPV3	99.99
TSC1	100.00
TSC2	99.99
SKIC3	99.99
TUBB	100.00
TWIST2	99.15
TYR	100.00
TYRP1	100.00
UBR1	100.00
USB1	100.00
UVSSA	100.00
VPS33B	100.00
WDR19	100.00
WDR35	100.00
WNK1	100.00
WNT10A	94.15
WRAP53	100.00
WRN	100.00
XPA	97.89
XPC	100.00
ZMPSTE24	100.00
ZNF469	99.97
ZNF750	100.00
TERC	100.00	t

Hereditary cancer predisposition - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABRAXAS1	100.00	0
ACD	100.00	0
AIP	100.00	0
AMER1	100.00	0
APC	100.00	0
ATM	100.00	0
AXIN2	100.00	0
BAP1	100.00	0
BARD1	100.00	0
BLM	100.00	0
BMPR1A	100.00	0
BRCA1	100.00	0
BRCA2	100.00	0
BRIP1	100.00	0
BUB1B	100.00	0
BUB3	100.00	0
CDH1	100.00	0
CDK12	100.00	0
CDK4	100.00	0
CDKN1B	100.00	0
CDKN2A	100.00	0
CHEK1	100.00	0
CHEK2	100.00	0
CTNNA1	100.00	0
CTNNB1	100.00	0
DICER1	100.00	0
EDN3	100.00	0
EDNRB	100.00	0
EPCAM	100.00	0
ERCC4	100.00	0
FANCA	100.00	0
FANCB	100.00	0
FANCC	100.00	0
FANCD2	100.00	0
FANCE	100.00	0
FANCF	100.00	0
FANCG	100.00	0
FANCI	100.00	0
FANCL	100.00	0
FANCM	100.00	0
FH	100.00	0
FLCN	100.00	0
GDNF	100.00	0
GREM1	100.00	0
HNF1B	100.00	0
HOXB13	100.00	0
MAD2L2	100.00	0
MAX	100.00	0
MEN1	100.00	0
MET	100.00	0
MITF	100.00	0
MLH1	100.00	0
MRE11	100.00	0
MSH2	100.00	0
MSH3	100.00	0
MSH6	100.00	0
MUTYH	100.00	0
NBN	100.00	0
NRG3	100.00	0
NRTN	100.00	0
NTHL1	100.00	0
PALB2	100.00	0
PALLD	100.00	0
PBRM1	100.00	0
PMS2	100.00	0
POLD1	100.00	0
POLE	100.00	0
POT1	100.00	0
PPP2R2A	100.00	0
PTEN	100.00	0
RABL3	100.00	0
RAD50	100.00	0
RAD51	100.00	0
RAD51B	100.00	0
RAD51C	100.00	0
RAD51D	100.00	0
RAD54L	100.00	0
RECQL	100.00	0
RET	100.00	0
RFWD3	100.00	0
RNF43	100.00	0
SDHA	100.00	0
SDHAF2	100.00	0
SDHB	100.00	0
SDHC	100.00	0
SDHD	100.00	0
SEMA3C	100.00	0
SEMA3D	100.00	0
SLX4	100.00	0
SMAD4	100.00	0
SMARCA4	100.00	0
SOX10	100.00	0
SPINK1	100.00	0
STK11	100.00	0
SUCLG2	100.00	0
TERF2IP	100.00	0
TERT	100.00	0
TMEM127	100.00	0
TP53	100.00	0
TSC1	100.00	0
TSC2	100.00	0
UBE2T	100.00	0
VHL	100.00	0
WT1	100.00	0
XRCC2	100.00	0
MBD4	100.00	0
NRG1	100.00	0

Kidney cancer (Renal Cell Carcinoma (RCC)) (14 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BAP1	100.00	1
FH	100.00	1
FLCN	100.00	1
MET	100.00	1
SDHB	100.00	1
SDHD	100.00	1
SDHC	100.00	1
SDHA	100.00	1
SDHAF2	100.00	1
VHL	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1

Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BAP1	100.00	1
FH	100.00	1
FLCN	100.00	1
MET	100.00	1
SDHB	100.00	1
SDHD	100.00	1
SDHC	100.00	1
SDHA	100.00	1
SDHAF2	100.00	1
VHL	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1

Nephropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACE	99.98	1
ACTG2	99.99	1
ACTN4	100.00	1
ADAMTS13	100.00	1
ADAMTS9	99.94	1
ADCY10	99.77	1
AGXT	100.00	1
AGTR1	99.97	1
AHI1	99.86	1
ALDOB	100.00	1
ALG1	86.66	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
ALPL	99.88	1
ABCD1	100.00	1
ANKS6	100.00	1
ANLN	99.85	1
ANOS1	99.96	1
AP2S1	99.98	1
APOA1	100.00	1
APOA2	99.84	1
APOL1	99.99	1
APRT	100.00	1
AQP2	100.00	1
ARHGAP24	99.86	1
ARHGDIA	100.00	1
ARL13B	99.53	1
ARL6	99.90	1
ARSA	99.99	1
ATP6V0A4	99.93	1
ATP6V1B1	99.98	1
ATP7B	100.00	1
NLRP3	100.00	1
AVPR2	100.00	1
B9D1	99.80	1
B9D2	99.88	1
BBIP1	99.99	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BICC1	99.76	1
BMP4	100.00	1
BMP7	100.00	1
BSND	99.92	1
C3	100.00	1
C5	99.92	1
CA2	99.62	1
CACNA1S	99.96	1
CASR	99.99	1
CC2D2A	99.95	1
CCDC39	99.74	1
CCNQ	99.98	1
CD151	100.00	1
CD2AP	99.69	1
CD46	99.86	1
CDC5L	99.83	1
CDKN1C	100.00	1
CEP104	99.99	1
CEP120	99.90	1
CEP164	99.99	1
CEP290	98.10	1
CEP41	99.99	1
CEP83	98.68	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CHD1L	98.53	1
CHD7	99.99	1
CHRM3	100.00	1
CHRNA3	99.95	1
CLCN5	99.67	1
CLCN7	99.99	1
CLCNKA	99.98	1
CLCNKB	99.98	1
CLDN10	99.97	1
CLDN16	99.98	1
CLDN19	99.02	1
CNNM2	99.94	1
COL4A1	99.99	1
COL4A3	99.94	1
COL4A4	99.95	1
COL4A5	99.64	1
COQ2	99.90	1
COQ6	99.94	1
COQ7	100.00	1
COQ8A	100.00	1
COQ8B	99.94	1
COQ9	99.62	1
CPLANE1	99.81	1
CPT2	99.65	1
CRB2	99.95	1
CSPP1	98.31	1
CTNS	100.00	1
CUBN	99.99	1
CUL3	99.76	1
CYP11B2	100.00	1
CYP24A1	100.00	1
DAAM2	99.99	1
DCDC2	99.96	1
DGKE	99.10	1
DMP1	99.99	1
DNAJB11	99.97	1
DSTYK	99.83	1
DYNC2H1	99.66	1
DYNC2I1	99.99	1
DZIP1L	98.46	1
EGF	99.96	1
EGFR	99.68	1
EHHADH	99.99	1
EMP2	100.00	1
ENPP1	99.88	1
EVC	99.95	1
EVC2	99.97	1
EYA1	99.81	1
FANCA	99.98	1
FAHD2A	100.00	1
FAM186B	99.99	1
FAM20A	100.00	1
FAN1	99.73	1
FAT1	99.99	1
FGA	99.98	1
FGF20	99.71	1
FGF23	100.00	1
FGFR1	100.00	1
FH	99.95	1
FLCN	99.51	1
FN1	99.95	1
FRAS1	99.97	1
FREM1	99.98	1
FREM2	99.97	1
FXYD2	100.00	1
G6PC1	99.93	1
GALNT3	99.52	1
GALT	100.00	1
GANAB	99.97	1
GATA3	99.96	1
GATM	99.92	1
GDNF	99.99	1
GLA	99.90	1
GLI3	100.00	1
GLIS2	100.00	1
GNA11	99.99	1
GON7	99.92	1
GPC3	99.60	1
GRHPR	99.93	1
GRIP1	99.83	1
GSN	99.93	1
HNF1B	100.00	1
HNF4A	100.00	1
HOGA1	100.00	1
HPRT1	97.80	1
HPSE2	100.00	1
HSD11B2	99.99	1
IFT122	99.98	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT80	99.69	1
IFT81	94.64	1
INCENP	99.99	1
INF2	99.99	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITGA3	99.86	1
ITGA8	99.95	1
ITGB4	99.99	1
JAG1	100.00	1
KANK1	99.99	1
KANK2	99.99	1
KANK4	99.70	1
KCNA1	100.00	1
KCNJ1	100.00	1
KCNJ10	99.98	1
KIAA0586	95.75	1
KIF14	97.80	1
KIF7	100.00	1
KL	99.98	1
KLHL3	99.97	1
LAGE3	99.99	1
LAMB2	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRIG2	97.97	1
LRP2	99.86	1
LRP5	99.95	1
LRP6	99.91	1
LYZ	99.86	1
LZTFL1	100.00	1
MAGED2	99.98	1
MAGI2	99.89	1
MAPKBP1	99.98	1
MET	99.97	1
MKKS	100.00	1
MKS1	99.92	1
MMACHC	99.98	1
MUC1	99.98	1
MYH9	99.95	1
MYO1E	99.94	1
NEIL1	99.99	1
NEK1	99.83	1
NEK9	99.99	1
NOTCH2	99.03	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NPHS1	99.97	1
NPHS2	99.87	1
NR3C2	100.00	1
NUP107	97.46	1
NUP133	99.45	1
NUP205	99.92	1
NUP93	99.87	1
NXF5	96.29	1
OCRL	99.89	1
OFD1	99.68	1
PAX2	99.99	1
PAX8	99.99	1
PBX1	99.88	1
PCBD1	99.84	1
PDE6D	99.94	1
PDSS1	95.70	1
PDSS2	99.87	1
PHEX	99.83	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PLCE1	99.98	1
PLG	99.89	1
PMM2	99.93	1
PRKCSH	99.99	1
PSAP	99.94	1
PTEN	99.89	1
PTPRO	99.91	1
PYGM	99.96	1
RBM48	99.09	1
RCOR1	99.97	1
REN	99.85	1
RET	99.97	1
ROBO2	99.80	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RRM2B	99.97	1
SALL1	100.00	1
SALL4	100.00	1
SARS2	99.99	1
SCARB2	99.99	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SDCCAG8	100.00	1
SDHB	97.32	1
SDHD	82.93	1
SEC61A1	99.99	1
SEC63	99.84	1
SGPL1	99.95	1
SIX1	100.00	1
SIX2	100.00	1
SIX5	100.00	1
SLC12A1	99.90	1
SLC12A3	99.84	1
SLC22A12	99.99	1
SLC26A1	100.00	1
SLC26A3	99.97	1
SLC2A2	99.96	1
SLC2A9	99.98	1
SLC34A1	99.99	1
SLC34A3	100.00	1
SLC37A4	99.90	1
SLC3A1	99.98	1
SLC41A1	99.98	1
SLC4A1	99.94	1
SLC4A4	99.97	1
SLC7A9	99.97	1
NHERF1	100.00	1
SMARCAL1	99.97	1
SOX17	100.00	1
SRGAP1	99.68	1
STRADA	99.98	1
STX16	100.00	1
SYNPO	100.00	1
TBC1D1	99.96	1
TBC1D8B	99.31	1
TBX18	99.50	1
TCTN1	99.92	1
TCTN2	99.99	1
TCTN3	99.92	1
THBD	100.00	1
TMEM107	100.00	1
TMEM138	100.00	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM237	99.30	1
TMEM67	99.69	1
TNFRSF25	99.98	1
TNXB	90.86	1
TP53RK	81.09	1
TRAP1	100.00	1
TRIM32	100.00	1
TRPC6	99.99	1
TRPM6	99.93	1
TSC1	99.99	1
TSC2	99.98	1
TTC21B	99.50	1
TTC8	99.67	1
UMOD	99.98	1
UPK3A	100.00	1
UPK3B	99.62	1
VDR	99.86	1
VHL	100.00	1
VIPAS39	99.87	1
VPS33B	99.95	1
WDPCP	99.87	1
WDR19	99.80	1
WDR35	99.92	1
WDR4	99.95	1
WDR73	99.92	1
WNK1	99.98	1
WNK4	99.98	1
WNT4	99.94	1
WT1	99.99	1
XDH	99.97	1
XPNPEP3	99.99	1
XPO5	99.89	1
YRDC	99.85	1
ZMPSTE24	98.70	1
ZMYM2	99.88	1
ZNF423	98.94	1

Onco-endocine pathologies (50 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AIP	100.00	1	Part of Custom Onco-endocrino panel
ALK	100.00	1	Part of Custom Onco-endocrino panel
ARMC5	100.00	1	Part of Custom Onco-endocrino panel
AXIN2	100.00	1	Part of Custom Onco-endocrino panel
BAP1	100.00	1	Part of Custom Onco-endocrino panel
CDK4	100.00	1	Part of Custom Onco-endocrino panel
CDKN1B	100.00	1	Part of Custom Onco-endocrino panel
CDKN2A	100.00	1	Part of Custom Onco-endocrino panel
CYLD	100.00	1	Part of Custom Onco-endocrino panel
DNMT3A	100.00	1	Part of Custom Onco-endocrino panel
EGLN1	100.00	1	Part of Custom Onco-endocrino panel
EGLN2	100.00	1	Part of Custom Onco-endocrino panel
EGLN3	100.00	1	Part of Custom Onco-endocrino panel
EPAS1	100.00	1	Part of Custom Onco-endocrino panel
FH	100.00	1	Part of Custom Onco-endocrino panel
FLCN	100.00	1	Part of Custom Onco-endocrino panel
GOT2	100.00	1	Part of Custom Onco-endocrino panel
HIF1A	100.00	1	Part of Custom Onco-endocrino panel
HOXB13	100.00	1	Part of Custom Onco-endocrino panel
IDH3B	100.00	1	Part of Custom Onco-endocrino panel
KIF1B	100.00	1	Part of Custom Onco-endocrino panel
KIT	100.00	1	Part of Custom Onco-endocrino panel
KMT2D	100.00	1	Part of Custom Onco-endocrino panel
MAX	100.00	1	Part of Custom Onco-endocrino panel
MC1R	100.00	1	Part of Custom Onco-endocrino panel
MDH1	100.00	1	Part of Custom Onco-endocrino panel
MDH2	100.00	1	Part of Custom Onco-endocrino panel
MEN1	100.00	1	Part of Custom Onco-endocrino panel
MERTK	100.00	1	Part of Custom Onco-endocrino panel
MET	100.00	1	Part of Custom Onco-endocrino panel
MITF	100.00	1	Part of Custom Onco-endocrino panel
NF1	100.00	1	Part of Custom Onco-endocrino panel
PDGFRA	100.00	1	Part of Custom Onco-endocrino panel
PHOX2B	100.00	1	Part of Custom Onco-endocrino panel
POT1	100.00	1	Part of Custom Onco-endocrino panel
PRKAR1A	100.00	1	Part of Custom Onco-endocrino panel
PTCH1	100.00	1	Part of Custom Onco-endocrino panel
PTCH2	100.00	1	Part of Custom Onco-endocrino panel
RB1	100.00	1	Part of Custom Onco-endocrino panel
RET	100.00	1	Part of Custom Onco-endocrino panel
SDHA	100.00	1	Part of Custom Onco-endocrino panel
SDHAF1	100.00	1	Part of Custom Onco-endocrino panel
SDHAF2	100.00	1	Part of Custom Onco-endocrino panel
SDHAF3	100.00	1	Part of Custom Onco-endocrino panel
SDHB	100.00	1	Part of Custom Onco-endocrino panel
SDHC	100.00	1	Part of Custom Onco-endocrino panel
SDHD	100.00	1	Part of Custom Onco-endocrino panel
SUFU	100.00	1	Part of Custom Onco-endocrino panel
TMEM127	100.00	1	Part of Custom Onco-endocrino panel
VHL	100.00	1	Part of Custom Onco-endocrino panel

Panel Nephro-ULG-V1

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACE	97.24	,
ACTG2	100.00	,
ACTN4	100.00	,
ADAMTS13	96.63	,
ADAMTS9	100.00	,
ADCY10	100.00	,
AGT	100.00	,
AGTR1	100.00	,
AGXT	100.00	,
ALDOB	100.00	,
ALG5	100.00	,
ALG8	100.00	,
ALG9	99.28	,
ALMS1	100.00	,
ALPL	100.00	,
AMN	86.23	,
ANKS6	91.46	,
ANLN	100.00	,
ANOS1	94.70	,
AP2S1	100.00	,
APOA1	100.00	,
APOL1	100.00	,
APRT	100.00	,
AQP2	100.00	,
ARHGAP24	99.80	,
ARHGDIA	100.00	,
ARL6	100.00	,
ATP6V0A4	100.00	,
ATP6V1B1	100.00	,
ATP7B	100.00	,
ATXN10	99.92	,
AVIL	100.00	,
AVPR2	100.00	,
B2M	100.00	,
B9D1	100.00	,
B9D2	100.00	,
BBIP1	100.00	,
BBS1	100.00	,
BBS10	100.00	,
BBS12	100.00	,
BBS2	100.00	,
BBS4	100.00	,
BBS5	100.00	,
BBS7	100.00	,
BBS9	100.00	,
BICC1	99.81	,
BMP4	100.00	,
BMP7	100.00	,
BNC2	100.00	,
BSND	100.00	,
C3	100.00	,
CA2	100.00	,
CASR	100.00	,
CC2D2A	100.00	,
CD151	100.00	,
CD2AP	100.00	,
CD46	100.00	,
CDC5L	100.00	,
CDC73	100.00	,
CENPF	100.00	,
CEP164	100.00	,
CEP290	99.95	,
CEP41	100.00	,
CEP55	100.00	,
CEP83	100.00	,
CFB	100.00	,
CFH	100.00	,
CFHR1	95.06	,
CFHR3	99.44	,
CFHR5	100.00	,
CFI	100.00	,
CHD1L	99.95	,
CHD7	100.00	,
CHRM3	100.00	,
CHRNA3	99.35	,
CLCN5	100.00	,
CLCNKA	100.00	,
CLCNKB	100.00	,
CLDN10	100.00	,
CLDN16	100.00	,
CLDN19	100.00	,
CNNM2	99.42	,
COL4A1	99.52	,
COL4A3	99.47	,
COL4A4	100.00	,
COL4A5	99.90	,
COL4A6	99.82	,
COQ2	95.50	,
COQ6	100.00	,
COQ8A	100.00	,
COQ8B	100.00	,
CRB2	94.59	,
CSPP1	100.00	,
CTNS	100.00	,
CTU2	98.44	,
CUBN	100.00	,
CUL3	100.00	,
CYP24A1	100.00	,
DAAM2	100.00	,
DCDC2	100.00	,
DGKE	100.00	,
DHCR7	99.99	,
DIS3L2	100.00	,
DMP1	100.00	,
DNAJB11	100.00	,
DSTYK	100.00	,
DYNC2H1	99.97	,
DZIP1L	100.00	,
EGF	100.00	,
EGFR	99.63	,
EHHADH	100.00	,
EMP2	100.00	,
EYA1	100.00	,
FAH	100.00	,
FAM20A	99.78	,
CCNQ	82.12	,
FAN1	100.00	,
FAT1	100.00	,
FGA	100.00	,
FGF20	99.13	,
FGF23	100.00	,
FH	100.00	,
FLCN	100.00	,
FN1	99.98	,
FRAS1	100.00	,
FREM1	100.00	,
FREM2	100.00	,
FXYD2	100.00	,
G6PC1	100.00	,
GALT	100.00	,
GANAB	100.00	,
GATA3	100.00	,
GATM	100.00	,
GLA	100.00	,
GLI3	100.00	,
GLIS2	100.00	,
GNA11	99.87	,
GPC3	99.84	,
GREB1L	100.00	,
GRHPR	100.00	,
GRIP1	100.00	,
GSN	100.00	,
HAAO	100.00	,
HNF1B	100.00	,
HNF4A	100.00	,
HOGA1	100.00	,
HOXA13	71.26	,
HPRT1	97.10	,
HPSE2	100.00	,
HSD11B2	78.40	,
IFT122	100.00	,
IFT140	99.96	,
IFT172	100.00	,
IFT27	100.00	,
IFT80	100.00	,
INF2	99.98	,
INVS	100.00	,
IQCB1	100.00	,
ITGA3	99.70	,
ITGA8	99.76	,
JAG1	99.83	,
KANK1	100.00	,
KANK2	100.00	,
KANK4	100.00	,
KCNA1	100.00	,
KCNJ1	100.00	,
KCNJ10	100.00	,
KCNJ16	100.00	,
KDM6A	99.90	,
KL	95.50	,
KLHL3	100.00	,
KMT2D	100.00	,
KYNU	99.98	,
LAMA5	98.59	,
LAMB2	100.00	,
LIFR	100.00	,
LMX1B	100.00	,
LRIG2	99.95	,
LRP2	100.00	,
LRP4	99.14	,
LRP5	97.83	,
LRP6	100.00	,
LYZ	100.00	,
LZTFL1	100.00	,
MAGED2	99.94	,
MAGI2	93.63	,
MAPKBP1	100.00	,
MET	100.00	,
MKKS	100.00	,
MKS1	100.00	,
MMACHC	100.00	,
MUC1	100.00	,
MYH9	100.00	,
MYO1E	100.00	,
MYOCD	100.00	,
NADSYN1	100.00	,
NEK8	100.00	,
NIPBL	100.00	,
NOTCH2	100.00	,
NPHP1	100.00	,
NPHP3	99.73	,
NPHP4	100.00	,
NPHS1	100.00	,
NPHS2	100.00	,
NR3C2	100.00	,
NRIP1	100.00	,
NUP107	100.00	,
NUP133	100.00	,
NUP160	100.00	,
NUP205	100.00	,
NUP85	100.00	,
NUP93	100.00	,
NXF5	0.00	,
OCRL	99.96	,
OFD1	100.00	,
PAX2	100.00	,
PBX1	100.00	,
PCBD1	92.70	,
PDE6D	100.00	,
PDSS2	100.00	,
PHEX	98.98	,
PKD1	96.86	,
PKD2	92.32	,
PKHD1	100.00	,
PLCE1	100.00	,
PLG	100.00	,
PLVAP	100.00	,
PMM2	100.00	,
PODXL	90.59	,
PRKCSH	100.00	,
PTPRO	100.00	,
REN	100.00	,
RET	99.35	,
ROBO1	100.00	,
ROBO2	100.00	,
ROR2	98.01	,
RPGRIP1L	99.18	,
RRAGD	99.90	,
RRM2B	100.00	,
SALL1	100.00	,
SARS2	100.00	,
SCARB2	100.00	,
SCNN1A	100.00	,
SCNN1B	100.00	,
SCNN1G	100.00	,
SDCCAG8	100.00	,
SDHB	100.00	,
SDHD	100.00	,
SEC61A1	100.00	,
SEC63	99.95	,
SGPL1	99.92	,
SIX1	100.00	,
SIX2	100.00	,
SIX5	93.51	,
SLC12A1	100.00	,
SLC12A3	100.00	,
SLC1A1	100.00	,
SLC22A12	100.00	,
SLC26A1	100.00	,
SLC26A3	100.00	,
SLC2A2	100.00	,
SLC2A9	100.00	,
SLC34A1	100.00	,
SLC34A3	100.00	,
SLC3A1	100.00	,
SLC41A1	100.00	,
SLC4A1	100.00	,
SLC4A4	100.00	,
SLC5A2	100.00	,
SLC6A19	100.00	,
SLC7A7	100.00	,
SLC7A9	100.00	,
NHERF1	100.00	,
SLIT2	99.95	,
SMARCAL1	100.00	,
SOX17	99.26	,
STRA6	100.00	,
STX16	100.00	,
TBC1D1	100.00	,
TBC1D8B	100.00	,
TBX18	99.84	,
TCTN2	100.00	,
TCTN3	100.00	,
TFAP2A	100.00	,
THBD	100.00	,
TMEM138	100.00	,
TMEM216	100.00	,
TMEM231	100.00	,
TMEM237	100.00	,
TMEM260	97.92	,
TMEM67	100.00	,
TRAP1	95.57	,
TRIM32	100.00	,
TRIM8	100.00	,
TRPC6	100.00	,
TRPM6	100.00	,
TSC1	100.00	,
TSC2	100.00	,
TTC21B	50.00	,
TTC8	100.00	,
TTR	100.00	,
TULP3	100.00	,
UMOD	100.00	,
UPK3A	100.00	,
VHL	100.00	,
VIPAS39	100.00	,
VPS33B	100.00	,
WBP11	100.00	,
WDPCP	100.00	,
WDR19	100.00	,
WDR35	100.00	,
WDR73	100.00	,
WNK1	100.00	,
WNK4	100.00	,
WNT4	93.15	,
WNT5A	88.79	,
WT1	95.16	,
XDH	100.00	,
XPNPEP3	100.00	,
XPO5	99.80	,
ZIC3	100.00	,
ZMYM2	99.97	,
ZNF423	100.00	,

Renal carcinoma (4 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
MET	100.00	1	Part of custom Onco-endocrino panel
FH	100.00	1	Part of custom Onco-endocrino panel
FLCN	100.00	1	Part of custom Onco-endocrino panel
VHL	100.00	1	Part of custom Onco-endocrino panel

Renal cell carcinoma - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BAP1	100.00	1
FH	100.00	0
FLCN	100.00	1
MAX	100.00	1
MET	100.00	0
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1
PTEN	100.00	1
RET	100.00	0
SDHA	100.00	1
SDHB	100.00	1
SDHC	100.00	1
SDHD	100.00	1
TMEM127	100.00	1
VHL	100.00	1
TSC1	100.00	0
TSC2	100.00	0
HNF1B	100.00	0
PBRM1	100.00	0