Belgian Genetic Tests database- Analytes
- MUTYH
MUTYH
| Name: |
mutY DNA glycosylase
|
| Symbol: |
MUTYH
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
MYH
|
| XREF(s): | |
| Created: |
17 Jul 2019 - 00:38
|
| Changed: |
22 Jun 2023 - 16:14
|
- Adenomatous polyposis, familial (gene panel)
- Breast and Ovarian cancer, HBOC, familial (gene panel - 17 genes)
- Breast cancer, hereditary (gene panel)
- Colon carcinoma (hereditary/familial) (gene panel)
- Colorectal cancer / Polyposis (gene panel)
- Colorectal cancer, hereditary (gene panel)
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
- Familial cancer predisposition (gene panel)
- Hereditary Polyposis Panel (11 genes) - ULG
- Hereditary cancer (Breast, ovary, colon) (26 genes)
- Hereditary cancer (gene panel)
- Hereditary cancer panel (gene panel)
- Hereditary nonpolyposis colorectal cancer (gene panel)
- Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes)
-
Extended Breast Cancer Panel (26 gene) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 1 No comment BARD1 100.00 1 No comment BLM 100.00 1 No comment BRCA1 100.00 1 No comment BRCA2 100.00 1 No comment BRIP1 100.00 1 No comment CDH1 100.00 1 No comment CHEK2 100.00 1 No comment EPCAM 100.00 1 No comment ABRAXAS1 100.00 1 No comment MEN1 100.00 1 No comment MLH1 100.00 1 No comment MRE11 100.00 1 No comment MSH2 100.00 1 No comment MSH6 100.00 1 No comment MUTYH 100.00 1 No comment NBN 100.00 1 No comment PALB2 100.00 1 No comment PMS2 100.00 1 No comment PTEN 100.00 1 No comment RAD50 100.00 1 No comment RAD51C 100.00 1 No comment RAD51D 100.00 1 No comment STK11 100.00 1 No comment TP53 100.00 1 No comment XRCC2 100.00 1 No comment -
Adenomatous polyposis, familial (2 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 77.00 0 MUTYH 77.00 1 -
Breast/Ovarian cancer (17 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 Core gene BRCA2 100.00 1 Core gene TP53 100.00 1 Core gene PALB2 100.00 1 Core gene CHEK2 100.00 1 Core gene for c.1100delC ATM 100.00 1 BARD1 100.00 1 BRIP1 100.00 1 CDH1 100.00 1 EPCAM 100.00 1 ABRAXAS1 100.00 1 MLH1 100.00 1 MRE11 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 NBN 100.00 1 PIK3CA 100.00 1 PMS2 100.00 1 PMS2CL 100.00 1 PTEN 100.00 1 RAD50 100.00 1 RAD51C 100.00 1 RAD51D 100.00 1 STK11 100.00 1 XRCC2 100.00 1 -
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABRAXAS1 ATM BARD1 BRCA1 BRCA2 BLM BRIP1 CDH1 CHEK2 EPCAM MEN1 MLH1 MRE11 MSH2 MSH6 MUTYH NBN PALB2 PMS2 PTEN RAD50 RAD51C RAD51D STK11 TP53 XRCC2 -
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 MUTYH 100.00 1 PMS2 100.00 1 POLD1 100.00 1 POLE 100.00 1 PTEN 100.00 1 STK11 100.00 1 BRIP1 100.00 1 PMS1 100.00 1 -
Colorectal cancer/polyposis (18 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 PMS2 100.00 1 EPCAM 100.00 1 POLD1 100.00 1 POLE 100.00 1 CHEK2 100.00 1 TP53 100.00 1 APC 100.00 1 STK11 100.00 1 BMPR1A 100.00 1 SMAD4 100.00 1 PTEN 100.00 1 RNF43 100.00 1 NTHL1 100.00 1 MSH3 100.00 1 MUTYH 100.00 1 -
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 -
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 Polyposis Panel (11 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 CNV assessed by MLPA MUTYH 100.00 1 CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit) BMPR1A 100.00 0 NTHL1 100.00 0 SMAD4 100.00 0 MSH3 100.00 0 POLE 100.00 0 POLD1 100.00 0 PTEN 100.00 1 CNV assessed by MLPA (on demand) STK11 100.00 0 GREM1 100.00 1 CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit) -
Hereditary breast and ovarian cancer (26 genes) - CHULg
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATM 100.00 -2 BARD1 100.00 -2 BLM 100.00 -2 BRCA1 100.00 -2 BRCA2 100.00 -2 BRIP1 100.00 -2 CDH1 100.00 -2 CHEK2 100.00 -2 EPCAM 100.00 -2 ABRAXAS1 100.00 -2 MEN1 100.00 -2 MLH1 100.00 -2 MRE11 100.00 -2 MSH2 100.00 -2 MSH6 100.00 -2 MUTYH 100.00 -2 NBN 100.00 -2 PALB2 100.00 -2 PMS2 100.00 -2 PTEN 100.00 -2 RAD50 100.00 -2 RAD51C 100.00 -2 RAD51D 100.00 -2 STK11 100.00 -2 TP53 100.00 -2 XRCC2 100.00 -2 -
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 colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APC 100.00 1 BMPR1A 100.00 1 GREM1 100.00 1 CNV for recurrent 40kb duplication MLH1 100.00 1 MSH2 100.00 1 MSH3 100.00 0 MSH6 100.00 1 MUTYH 100.00 1 NTHL1 100.00 0 PMS2 100.00 1 POLD1 100.00 0 POLE 100.00 1 PTEN 100.00 1 SMAD4 100.00 1 STK11 100.00 1 RNF43 100.00 0 AXIN2 100.00 0 EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2 -
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 -
Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MLH1 100.00 1 CNV assessed by MLPA MSH2 100.00 1 CNV assessed by MLPA MSH6 100.00 1 CNV assessed by MLPA EPCAM 100.00 0 TP53 100.00 1 CNV assessed by MLPA MUTYH 100.00 1 CNV assessed by MLPA (on demand) POLE 100.00 0 POLD1 100.00 0