Belgian Genetic Tests database- Analytes
- CDKN2A
CDKN2A
| Name: |
cyclin dependent kinase inhibitor 2A
|
| Symbol: |
CDKN2A
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
ARF
CDK4I
CMM2
INK4
INK4a
MTS1
p14
p14ARF
p16
p16INK4a
p19
p19Arf
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
26 Oct 2023 - 23:49
|
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
- Epidermal nevus syndrome (gene panel)
- Familial cancer predisposition (gene panel)
- Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel)
- Hereditary Melanoma Panel (7 genes)
- Hereditary cancer (gene panel)
- Hereditary cancer panel (gene panel)
- Maffucci syndrome (gene panel)
- Malignant Mesothelioma (BAP1; CDKN2A genes)
- Melanoma (6 genes)
- Melanoma / Familial Atypical Multiple Mole Melanoma Syndrome (gene panel)
- Onco-endocrine pathologies (gene panel)
- Overgrowth & vascular anomalies (gene panel)
- Pancreatic cancer (12 genes)
- Pancreatic cancer (gene panel)
- Pancreatic cancer, familial (gene panel)
- Pediatric oncopredisposition (gene panel)
- Sturge-Weber syndrome (gene panel)
- Adrenocortical carcinoma
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
- Familial atypical multiple mole melanoma syndrome
- Familial melanoma
- Familial pancreatic carcinoma
- Li-Fraumeni syndrome
- Melanoma and neural system tumor syndrome
- Precursor B-cell acute lymphoblastic leukemia
- Precursor T-cell acute lymphoblastic leukemia
-
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 AAGAB 97.88 0 ABCA12 100.00 0 ABCB6 100.00 0 ABCC6 99.97 0 ABHD5 100.00 0 ACD 100.00 0 ADAM10 100.00 0 ADAMTS2 95.82 0 ADAR 100.00 0 AIM1 100.00 0 AKT1 100.00 0 ALDH18A1 100.00 0 ALDH3A2 99.94 0 ALOX12B 100.00 0 ALOXE3 100.00 0 ANTXR1 100.00 0 AP1S1 100.00 0 AP3B1 100.00 0 APCDD1 99.97 0 AQP5 99.87 0 ARHGAP31 100.00 0 ARSL 99.95 0 ASAH1 100.00 0 ATM 100.00 0 ATP2A2 100.00 0 ATP2C1 100.00 0 ATP6V0A2 99.98 0 ATP6V1A 100.00 0 ATP6V1E1 99.99 0 ATP7A 100.00 0 AXIN2 100.00 0 B3GALT6 63.11 0 B4GALT7 90.91 0 BANF1 97.55 0 BCS1L 100.00 0 BLM 100.00 0 BLOC1S3 95.69 0 BLOC1S6 100.00 0 BRAF 96.86 0 LRMDA 100.00 0 KDF1 100.00 0 CARD14 99.96 0 CBL 100.00 0 CBS 99.92 0 CD151 99.99 0 CDH3 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 99.69 0 CDSN 99.93 0 CERS3 100.00 0 CHST14 99.81 0 CHST8 100.00 0 CHUK 99.59 0 CLCF1 100.00 0 CLDN1 100.00 0 CLDN10 100.00 0 COG6 100.00 0 COL11A1 100.00 0 COL12A1 100.00 0 COL17A1 100.00 0 COL1A1 100.00 0 COL1A2 99.41 0 COL3A1 99.99 0 COL5A1 98.23 0 COL5A2 100.00 0 COL7A1 100.00 0 CREBBP 99.98 0 CRLF1 89.67 0 CSTA 100.00 0 CTC1 99.71 0 CTSC 100.00 0 CYLD 100.00 0 CYP26C1 97.30 0 CYP4F22 99.27 0 DDB2 100.00 0 DIP2B 99.71 0 DKC1 99.92 0 DLL4 100.00 0 DLX3 99.95 0 DNMT1 99.69 0 DOCK6 99.13 0 DOLK 100.00 0 DSC3 98.96 0 DSE 100.00 0 DSG1 100.00 0 DSG2 99.89 0 DSG4 100.00 0 DSP 100.00 0 DST 100.00 0 DTNBP1 99.96 0 GLB1 100.00 0 ECM1 100.00 0 EDA 99.05 0 EDAR 100.00 0 EDARADD 100.00 0 EDN3 99.95 0 EDNRB 100.00 0 EFEMP2 100.00 0 ELN 99.96 0 ELOVL4 100.00 0 ENPP1 97.25 0 EOGT 100.00 0 EP300 100.00 0 EPG5 99.99 0 ERCC2 99.35 0 ERCC3 100.00 0 ERCC4 99.99 0 ERCC5 100.00 0 ERCC6 100.00 0 ERCC8 100.00 0 EVC 94.53 0 EVC2 98.69 0 EXPH5 100.00 0 F12 99.81 0 FAM111B 100.00 0 RETREG1 93.87 0 FAM83G 100.00 0 FBLN5 100.00 0 FBN1 100.00 0 FBN2 100.00 0 FERMT1 99.96 0 FGFR2 100.00 0 FGFR3 99.36 0 FH 100.00 0 FKBP14 100.00 0 FLCN 100.00 0 FGFR1 100.00 0 FLG2 100.00 0 FOXN1 100.00 0 FZD6 100.00 0 GALNT3 100.00 0 GAN 98.95 0 GBA1 100.00 0 GGCX 99.91 0 GHR 99.21 0 GJA1 100.00 0 GJB2 100.00 0 GJB3 100.00 0 GJB4 100.00 0 GJB6 100.00 0 GLA 100.00 0 GNAS 100.00 0 GORAB 100.00 0 GPR143 89.17 0 GRHL2 100.00 0 GSN 97.95 0 GTF2E2 100.00 0 GTF2H5 100.00 0 HAMP 100.00 0 HCCS 100.00 0 HDAC8 99.82 0 HFE 100.00 0 HJV 100.00 0 HGD 100.00 0 HLCS 100.00 0 HOXC13 96.56 0 HPGD 99.87 0 HPS1 100.00 0 HPS3 99.99 0 HPS4 99.99 0 HPS5 100.00 0 HPS6 96.32 0 HR 99.78 0 HRAS 100.00 0 IFT122 99.99 0 IFT43 100.00 0 ELP1 100.00 0 IKBKG 96.27 0 IL31RA 100.00 0 INSR 96.81 0 ITGA3 99.99 0 ITGA6 100.00 0 ITGB4 98.77 0 JUP 100.00 0 KANK2 99.99 0 KCNH1 100.00 0 KCTD1 100.00 0 KDM6A 99.63 0 KDSR 99.98 0 KIF1A 99.07 0 KIT 99.98 0 KITLG 100.00 0 KL 96.52 0 KLHL24 100.00 0 KLLN 100.00 0 KMT2D 99.99 0 KRAS 100.00 0 KREMEN1 92.10 0 KRT1 99.80 0 KRT10 99.93 0 KRT14 100.00 0 KRT16 99.48 0 KRT17 92.10 0 KRT2 100.00 0 KRT5 100.00 0 KRT6A 100.00 0 KRT6B 100.00 0 KRT6C 99.44 0 KRT71 99.95 0 KRT74 99.99 0 KRT81 100.00 0 KRT83 99.99 0 KRT85 99.27 0 KRT86 99.98 0 KRT9 100.00 0 LAMA4 99.75 0 LAMB3 100.00 0 LAMC2 99.43 0 LEMD3 99.97 0 LIPH 100.00 0 LIPN 100.00 0 LMNA 99.52 0 LMX1B 99.55 0 LORICRIN 100.00 0 LPAR6 100.00 0 LRP1 100.00 0 LTBP4 99.49 0 LYST 100.00 0 LZTR1 99.92 0 MAP2K1 100.00 0 MAP2K2 99.99 0 MAPRE2 100.00 0 MBTPS2 100.00 0 MC1R 100.00 0 MEN1 99.83 0 MITF 100.00 0 MLH1 99.99 0 MLPH 100.00 0 MMP1 99.99 0 MMP2 99.93 0 MPDU1 100.00 0 MPLKIP 100.00 0 MSH2 100.00 0 MSH6 99.92 0 MSMO1 100.00 0 MSX1 99.53 0 MUTYH 100.00 0 MYO5A 99.78 0 NF1 98.85 0 NF2 99.97 0 NFKBIA 99.97 0 NGF 100.00 0 NHP2 100.00 0 NIPAL4 100.00 0 NIPBL 99.62 0 RMRP 100.00 0 NOP10 100.00 0 NOTCH1 98.81 0 NRAS 100.00 0 NSDHL 100.00 0 NTRK1 98.91 0 OCA2 99.73 0 OFD1 97.68 0 ORAI1 93.55 0 OSMR 100.00 0 PADI3 100.00 0 PARN 100.00 0 PAX3 100.00 0 PDGFRB 100.00 0 PEX7 96.12 0 PHYH 99.87 0 PIGL 100.00 0 PIK3CA 100.00 0 PKP1 100.00 0 PLCD1 99.74 0 PLEC 99.33 0 PLOD1 98.77 0 PLOD3 99.97 0 PMS2 98.83 0 PNPLA1 99.66 0 POFUT1 99.99 0 POGLUT1 100.00 0 POLD1 99.84 0 POLH 100.00 0 NT5C3A 100.00 0 PORCN 99.13 0 PPP1CB 100.00 0 PRDM12 83.27 0 PRDM5 100.00 0 PRKAR1A 100.00 0 PRKD1 97.12 0 PSAT1 99.73 0 PSENEN 100.00 0 PTCH1 99.03 0 PTCH2 100.00 0 PTDSS1 100.00 0 PTEN 99.64 0 PTPN11 94.81 0 NECTIN1 99.68 0 NECTIN4 99.41 0 PYCR1 100.00 0 RAB27A 100.00 0 RAD21 100.00 0 RAF1 100.00 0 RASA2 99.74 0 RBPJ 99.69 0 RECQL4 96.90 0 RET 96.88 0 RHBDF2 100.00 0 RIN2 100.00 0 RIPK4 99.98 0 RIT1 100.00 0 RNF113A 100.00 0 RPL21 84.30 0 RRAS 98.63 0 RSPO1 100.00 0 RTEL1 100.00 0 SASH1 99.88 0 SCN11A 99.99 0 SCN9A 99.99 0 SDHB 99.35 0 SDHD 99.95 0 SEC23B 100.00 0 SERPINB7 100.00 0 SERPINB8 100.00 0 SERPING1 97.68 0 SETBP1 100.00 0 SGPL1 100.00 0 SHOC2 100.00 0 HHAT 93.18 0 SKIC2 100.00 0 SLC24A5 100.00 0 SLC27A4 99.97 0 SLC29A3 95.73 0 SLC2A10 97.06 0 SLC39A13 100.00 0 SLC39A4 100.00 0 SLC45A2 100.00 0 SLC6A19 99.99 0 SLURP1 100.00 0 SMAD3 100.00 0 SMARCAD1 99.97 0 SMARCB1 100.00 0 SMC3 100.00 0 SMPD1 100.00 0 SNAI2 100.00 0 SNAP29 100.00 0 SNRPE 99.04 0 SOS1 100.00 0 SOS2 99.97 0 SOX10 97.31 0 SPINK5 100.00 0 SPRED1 100.00 0 SPRY1 100.00 0 SPTLC1 99.44 0 SRD5A3 98.97 0 ST14 99.95 0 STK11 99.81 0 STS 99.94 0 SUFU 100.00 0 SULT2B1 100.00 0 SUMF1 100.00 0 TAT 100.00 0 TCHH 100.00 0 TERT 93.51 0 TFR2 100.00 0 TGFB2 99.97 0 TGFB3 100.00 0 TGFBR1 91.97 0 TGFBR2 100.00 0 TGM1 100.00 0 TGM3 100.00 0 TGM5 100.00 0 TINF2 99.96 0 TMC6 99.87 0 TNXB 100.00 0 TP63 100.00 0 TRPS1 100.00 0 TRPV3 99.99 0 TSC1 100.00 0 TSC2 99.99 0 SKIC3 99.99 0 TUBB 100.00 0 TWIST2 99.15 0 TYR 100.00 0 TYRP1 100.00 0 UBR1 100.00 0 USB1 100.00 0 UVSSA 100.00 0 VPS33B 100.00 0 WDR19 100.00 0 WDR35 100.00 0 WNK1 100.00 0 WNT10A 94.15 0 WRAP53 100.00 0 WRN 100.00 0 XPA 97.89 0 XPC 100.00 0 ZMPSTE24 100.00 0 ZNF469 99.97 0 ZNF750 100.00 0 TERC 100.00 0 t -
Familial melanoma - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BAP1 100.00 1 CDK4 100.00 1 CDKN2A 100.00 1 MITF 100.00 0 POT1 100.00 0 ACD 100.00 0 TERF2IP 100.00 0 TERT 100.00 0 MBD4 100.00 0 -
Familial pancreatic cancer
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 BRCA2 ATM PALB2 STK11 CDKN2A RABL3 MLH1 MSH2 MSH6 PMS2 -
Familial pancreatic cancer
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 CDKN2A 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PALB2 100.00 1 PMS2 100.00 1 RABL3 100.00 0 STK11 100.00 1 TP53 100.00 1 -
Hereditary Cancer Solution (35 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 ISO15189 ATM 100.00 1 ISO15189 BAP1 100.00 1 ISO15189 BARD1 100.00 1 ISO15189 BMPR1A 100.00 1 ISO15189 BRCA1 100.00 1 ISO15189 BRCA2 100.00 1 ISO15189 BRIP1 100.00 1 ISO15189 CDH1 100.00 1 ISO15189 CDKN2A 100.00 1 ISO15189 CHEK2 100.00 1 ISO15189 EPCAM 100.00 1 ISO15189 GREM1 100.00 1 ISO15189 MLH1 100.00 1 ISO15189 MRE11 100.00 1 ISO15189 MSH2 100.00 1 ISO15189 MSH3 100.00 1 ISO15189 MSH6 100.00 1 ISO15189 MUTYH 100.00 1 ISO15189 NBN 100.00 1 ISO15189 NTHL1 100.00 1 ISO15189 PALB2 100.00 1 ISO15189 PIK3CA 100.00 1 ISO15189 PMS2 100.00 1 ISO15189 POLD1 100.00 1 ISO15189 POLE 100.00 1 ISO15189 PTEN 100.00 1 ISO15189 RAD50 100.00 1 ISO15189 RAD51C 100.00 1 ISO15189 RAD51D 100.00 1 ISO15189 SCG5 100.00 1 ISO15189 SMAD4 100.00 1 ISO15189 STK11 100.00 1 ISO15189 TP53 100.00 1 ISO15189 XRCC2 100.00 1 ISO15189 -
Hereditary Melanoma Panel (7 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN2A 100.00 0 CDK4 100.00 0 POT1 100.00 0 TERT 100.00 0 TERF2IP 100.00 0 BAP1 100.00 0 MITF 100.00 0 -
Hereditary cancer predisposition - UGent
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 -
Hereditary predisposition to cancer (47 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 NM_000038.6 ATM 100.00 1 NM_000051.3 BAP1 100.00 1 NM_004656.4 BARD1 100.00 1 NM_000465.4 BMPR1A 100.00 1 NM_004329.3 BRCA1 100.00 1 NM_007294.4 BRCA2 100.00 1 NM_000059.3 BRIP1 100.00 1 NM_032043.3 CDH1 100.00 1 NM_004360.5 CDKN1B 100.00 1 NM_004064.4 CDKN2A 100.00 1 NM_001195132.1 CHEK2 100.00 1 NM_007194.4 EPCAM 100.00 1 NM_002354.3 GATA2 100.00 1 NM_032638.5 GREM1 100.00 1 NM_013372.7 MEN1 100.00 1 NM_001370259.2 MLH1 100.00 1 NM_000249.4 MSH2 100.00 1 NM_000251.3 MSH3 100.00 1 NM_002439.5 MSH6 100.00 1 NM_000179.3 MUTYH 100.00 1 NM_001128425.2 NBN 100.00 1 NM_002485.5 NTHL1 100.00 1 NM_002528.7 PALB2 100.00 1 NM_024675.4 PIK3CA 100.00 1 NM_006218.4 PMS2 100.00 1 NM_000535.7 POLD1 100.00 1 NM_002691.4 POLE 100.00 1 NM_006231.4 PTEN 100.00 1 NM_000314.8 RAD50 100.00 1 NM_005732.4 RAD51C 100.00 1 NM_058216.3 RAD51D 100.00 1 NM_002878.3 RPS20 100.00 1 NM_001146227.2 SCG5 100.00 1 NM_001144757.2 SMAD4 100.00 1 NM_005359.6 STK11 100.00 1 NM_000455.5 TP53 100.00 1 NM_000546.5 WWP1 100.00 1 NM_007013.4 AXIN2 100.00 1 NM_004655.4 CDK4 100.00 1 NM_000075.4 DICER1 100.00 1 NM_030621.4 HOXB13 100.00 1 NM_006361.6 NF1 100.00 1 NM_001042492.3 POT1 100.00 1 NM_015450.3 PTCH1 100.00 1 NM_000264.5 RB1 100.00 1 NM_000321.2 RET 100.00 1 NM_020975.6 -
Maffucci syndrome (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 0.00 0 Only hotspots in the gene AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene APC 0.00 0 Only hotspots in the gene ATM 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene BRCA1 0.00 0 Only hotspots in the gene BRCA2 0.00 0 Only hotspots in the gene CDH1 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CSF1R 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene DNMT3A 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB3 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene EZH2 0.00 0 Only hotspots in the gene FBXW7 0.00 0 Only hotspots in the gene FGFR1 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene FLT3 0.00 0 Only hotspots in the gene FOXL2 0.00 0 Only hotspots in the gene GNA11 0.00 0 Only hotspots in the gene GNAQ 0.00 0 Only hotspots in the gene GNAS 0.00 0 Only hotspots in the gene HNF1A 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene JAK2 0.00 0 Only hotspots in the gene JAK3 0.00 0 Only hotspots in the gene KDR 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene MLH1 0.00 0 Only hotspots in the gene MPL 0.00 0 Only hotspots in the gene MSH6 0.00 0 Only hotspots in the gene MTOR 0.00 0 Only hotspots in the gene NF1 0.00 0 Only hotspots in the gene NF2 0.00 0 Only hotspots in the gene NOTCH1 0.00 0 Only hotspots in the gene NPM1 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTCH1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene PTPN11 0.00 0 Only hotspots in the gene RB1 0.00 0 Only hotspots in the gene RET 0.00 0 Only hotspots in the gene SMAD4 0.00 0 Only hotspots in the gene SMARCB1 0.00 0 Only hotspots in the gene SMO 0.00 0 Only hotspots in the gene SRC 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene TERT 0.00 0 Only hotspots in the gene TP53 0.00 0 Only hotspots in the gene TSC1 0.00 0 Only hotspots in the gene VHL 0.00 0 Only hotspots in the gene -
Malignant Mesothelioma (2 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BAP1 CDKN2A -
Melanoma (6 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BAP1 100.00 1 Part of Custom Onco-endocrino panel CDK4 100.00 1 Part of Custom Onco-endocrino panel CDKN2A 100.00 1 Part of Custom Onco-endocrino panel MC1R 100.00 1 Part of Custom Onco-endocrino panel MITF 100.00 1 Part of Custom Onco-endocrino panel POT1 100.00 1 Part of Custom Onco-endocrino panel -
Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN2A 100.00 1 CDK4 100.00 1 BAP1 100.00 1 POT1 100.00 1 ACD 100.00 1 TERF2IP 100.00 1 TERT 0.00 0 only promoter MITF 100.00 1 -
Onco-endocine pathologies (50 genes) - UCL
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 -
Overgrowth & vascular anomalies (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 0.00 0 Only hotspots in the gene AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene APC 0.00 0 Only hotspots in the gene ATM 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene BRCA1 0.00 0 Only hotspots in the gene BRCA2 0.00 0 Only hotspots in the gene CDH1 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CSF1R 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene DNMT3A 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB3 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene EZH2 0.00 0 Only hotspots in the gene FBXW7 0.00 0 Only hotspots in the gene FGFR1 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene FLT3 0.00 0 Only hotspots in the gene FOXL2 0.00 0 Only hotspots in the gene GNA11 0.00 0 Only hotspots in the gene GNAQ 0.00 0 Only hotspots in the gene GNAS 0.00 0 Only hotspots in the gene HNF1A 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene JAK2 0.00 0 Only hotspots in the gene JAK3 0.00 0 Only hotspots in the gene KDR 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene MLH1 0.00 0 Only hotspots in the gene MPL 0.00 0 Only hotspots in the gene MSH6 0.00 0 Only hotspots in the gene MTOR 0.00 0 Only hotspots in the gene NF1 0.00 0 Only hotspots in the gene NF2 0.00 0 Only hotspots in the gene NOTCH1 0.00 0 Only hotspots in the gene NPM1 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTCH1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene PTPN11 0.00 0 Only hotspots in the gene RB1 0.00 0 Only hotspots in the gene RET 0.00 0 Only hotspots in the gene SMAD4 0.00 0 Only hotspots in the gene SMARCB1 0.00 0 Only hotspots in the gene SMO 0.00 0 Only hotspots in the gene SRC 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene TERT 0.00 0 Only hotspots in the gene TP53 0.00 0 Only hotspots in the gene TSC1 0.00 0 Only hotspots in the gene VHL 0.00 0 Only hotspots in the gene -
Pancreas cancer (12 genes-) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 ATM 100.00 1 CDK4 100.00 1 CDKN2A 100.00 1 EPCAM 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PALB2 100.00 1 STK11 100.00 1 TP53 100.00 1 -
Pancreatic Cancer (9 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDKN2A 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 BRCA1 100.00 1 BRCA2 100.00 1 PALB2 100.00 1 TP53 100.00 1 STK11 100.00 1 -
Pediatric oncopredisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.97 1 ABCB11 99.86 1 ACD 100.00 1 AIP 99.99 1 ALK 99.93 1 APC 99.97 1 ASXL1 100.00 1 ATM 99.83 1 RNF2 99.99 1 BLM 99.80 1 BMPR1A 99.58 1 BRAF 99.78 1 BRCA1 98.33 1 BRCA2 99.99 1 BRIP1 99.39 1 BUB1B 100.00 1 CBL 99.95 1 CD27 99.95 1 CD70 99.99 1 CDC73 99.60 1 CDH1 99.98 1 CDK4 100.00 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDKN2A 100.00 1 CEBPA 100.00 1 CEP57 99.92 1 CREBBP 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTR9 99.98 1 DDB2 100.00 1 DICER1 99.96 1 DIS3L2 99.90 1 DKC1 99.59 1 DNAJC21 99.67 1 EFL1 99.83 1 EGLN1 99.86 1 EGLN2 99.97 1 ELP1 99.96 1 EPAS1 99.99 1 EPCAM 99.89 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6L2 99.94 1 ETV6 99.99 1 EZH2 99.89 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FAS 99.99 1 FBXW7 99.90 1 FH 99.95 1 GATA1 99.97 1 GATA2 99.99 1 GPC3 99.60 1 GPC4 99.89 1 GPR161 99.92 1 HAVCR2 99.93 1 HRAS 100.00 1 IKZF1 99.92 1 ITK 99.91 1 KRAS 99.13 1 L2HGDH 99.92 1 LIG4 100.00 1 LZTR1 99.46 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAX 99.96 1 MDH2 99.54 1 MDM4 99.43 1 MEN1 99.98 1 MLH1 99.64 1 MRAS 99.97 1 MSH2 99.23 1 MSH6 99.97 1 MYSM1 94.16 1 NBN 99.93 1 NF1 99.88 1 NF2 100.00 1 NHP2 99.96 1 NOP10 99.99 1 NRAS 99.66 1 NSD1 99.98 1 PALB2 99.71 1 PARN 99.75 1 PAX5 99.82 1 PHOX2B 99.98 1 PIK3CA 99.74 1 PMS2 70.47 1 POLD1 99.96 1 POLE 99.99 1 POLH 99.85 1 POT1 99.91 1 PPP1CB 99.89 1 PRF1 100.00 1 PRKAR1A 100.00 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 RAF1 99.97 1 RB1 99.84 1 RECQL4 100.00 1 REST 99.99 1 RET 99.97 1 RIT1 99.78 1 RMRP 100.00 1 RPL11 99.81 1 RPL15 31.77 1 RPL18 100.00 1 RPL26 30.55 1 RPL27 99.83 1 RPL35 99.99 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS15A 22.14 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS27 27.45 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RRAS 99.98 1 RRAS2 99.94 1 RTEL1 100.00 1 RUNX1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SBDS 99.93 1 SDHA 99.98 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHC 99.67 1 SDHD 82.93 1 SETBP1 100.00 1 SH2D1A 98.98 1 SHOC2 99.96 1 SLX4 100.00 1 SMARCA4 99.99 1 SMARCB1 99.99 1 SMARCE1 99.87 1 SOS1 99.68 1 SOS2 99.39 1 SRP72 99.91 1 STK11 100.00 1 SUFU 100.00 1 TERC 98.59 1 TERT 100.00 1 TINF2 100.00 1 TMEM127 99.99 1 TP53 99.98 1 TRIM28 100.00 1 TRIM37 98.19 1 TRIP13 100.00 1 TSC1 99.99 1 TSC2 99.98 1 TSR2 99.96 1 UBE2T 99.89 1 USB1 89.62 1 VHL 100.00 1 WAS 99.90 1 WRAP53 100.00 1 WT1 99.99 1 XPA 99.68 1 XPC 99.98 1 SRP54 99.90 1 -
Sturge-Weber syndrome (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 0.00 0 Only hotspots in the gene AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene APC 0.00 0 Only hotspots in the gene ATM 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene BRCA1 0.00 0 Only hotspots in the gene BRCA2 0.00 0 Only hotspots in the gene CDH1 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CSF1R 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene DNMT3A 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB3 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene EZH2 0.00 0 Only hotspots in the gene FBXW7 0.00 0 Only hotspots in the gene FGFR1 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene FLT3 0.00 0 Only hotspots in the gene FOXL2 0.00 0 Only hotspots in the gene GNA11 0.00 0 Only hotspots in the gene GNAQ 0.00 0 Only hotspots in the gene GNAS 0.00 0 Only hotspots in the gene HNF1A 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene JAK2 0.00 0 Only hotspots in the gene JAK3 0.00 0 Only hotspots in the gene KDR 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene MLH1 0.00 0 Only hotspots in the gene MPL 0.00 0 Only hotspots in the gene MSH6 0.00 0 Only hotspots in the gene MTOR 0.00 0 Only hotspots in the gene NF1 0.00 0 Only hotspots in the gene NF2 0.00 0 Only hotspots in the gene NOTCH1 0.00 0 Only hotspots in the gene NPM1 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTCH1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene PTPN11 0.00 0 Only hotspots in the gene RB1 0.00 0 Only hotspots in the gene RET 0.00 0 Only hotspots in the gene SMAD4 0.00 0 Only hotspots in the gene SMARCB1 0.00 0 Only hotspots in the gene SMO 0.00 0 Only hotspots in the gene SRC 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene TERT 0.00 0 Only hotspots in the gene TP53 0.00 0 Only hotspots in the gene TSC1 0.00 0 Only hotspots in the gene VHL 0.00 0 Only hotspots in the gene -
epidermal nevus syndrome (65 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AKT1 0.00 0 Only hotspots in the gene ALK 0.00 0 Only hotspots in the gene BRAF 0.00 0 Only hotspots in the gene CDKN2A 0.00 0 Only hotspots in the gene CTNNB1 0.00 0 Only hotspots in the gene DDR2 0.00 0 Only hotspots in the gene EGFR 0.00 0 Only hotspots in the gene ERBB2 0.00 0 Only hotspots in the gene ERBB4 0.00 0 Only hotspots in the gene FGFR2 0.00 0 Only hotspots in the gene FGFR3 0.00 0 Only hotspots in the gene H3-3A 0.00 0 Only hotspots in the gene H3C2 0.00 0 Only hotspots in the gene HRAS 0.00 0 Only hotspots in the gene IDH1 0.00 0 Only hotspots in the gene IDH2 0.00 0 Only hotspots in the gene KIT 0.00 0 Only hotspots in the gene KRAS 0.00 0 Only hotspots in the gene MAP2K1 0.00 0 Only hotspots in the gene MET 0.00 0 Only hotspots in the gene NRAS 0.00 0 Only hotspots in the gene PDGFRA 0.00 0 Only hotspots in the gene PIK3CA 0.00 0 Only hotspots in the gene PIK3R1 0.00 0 Only hotspots in the gene PTEN 0.00 0 Only hotspots in the gene STK11 0.00 0 Only hotspots in the gene