Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AKT1 gene AKT1 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes Unknown Breast cancer, somatic 114480;Colorectal cancer, somatic 114500;Cowden syndrome 6 615109;Ovarian cancer, somatic 167000;Proteus syndrome, somatic 176920 25273821 False 2 0;0;0 1.95 False ENSG00000142208 ENSG00000142208 HGNC:391 BARD1 gene BARD1 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Breast cancer, susceptibility to} 114480" False 2 0;0;0 1.95 False ENSG00000138376 ENSG00000138376 HGNC:952 BRAF gene BRAF Expert Review Amber;Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100 19416762, 19206169 False 2 0;0;0 1.95 False ENSG00000157764 ENSG00000157764 HGNC:1097 CASR gene CASR Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes Unknown Pituitary Cancer, Parathyroid and Hypercalcaemia False 2 0;0;0 1.95 False ENSG00000036828 ENSG00000036828 HGNC:1514 CHEK2 gene CHEK2 Expert Review Amber;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Breast cancer False 2 0;0;0 1.95 False ENSG00000183765 ENSG00000183765 HGNC:16627 CTRC gene CTRC Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Pancreatitis, chronic, susceptibility to} 167800" 24624459 False 2 0;0;0 1.95 False ENSG00000162438 ENSG00000162438 HGNC:2523 EPCAM gene EPCAM Expert Review Amber;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome; Hereditary Non-Polyposis Colon Cancer (HNPCC); Muir-Torre SyndromeColorectal cancer; Endometrial cancer; Ovarian cancer Kuiper et al. Recurrence and variability of germline EPCAM deletions in Lynch syndrome.Hum Mutat. 32(4):407-14 (2011);. Ligtenberg et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3-prime exons of TACSTD1. Nat Genet. 41(1):112-7 (2009) False 2 0;0;0 1.95 False Other - please provide details in the comments ENSG00000119888 ENSG00000119888 HGNC:11529 GALNT12 gene GALNT12 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "{Colorectal cancer, susceptibility to, 1} 608812" 19617566;26448050;24115450;24038392;22473939;22461326;20551049;15557789 False 2 0;0;0 1.95 False ENSG00000119514 ENSG00000119514 HGNC:19877 GNAS gene GNAS Expert Review Amber;Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown McCune-Albright syndrome, 174800; Pseudohypoparathyroidism Ia 1944469,1594625 False 2 0;0;0 1.95 False ENSG00000087460 ENSG00000087460 HGNC:4392 HNF1A gene HNF1A Expert Review Amber;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-Onset Diabetes of The Young, Type 3 (MODY3); Hepatic adenoma Rebouissou, S., et al., 2005 Germline hepatocyte nuclear factor 1-alpha and 1-beta mutations in renal cell carcinomas. Hum. Molec. Genet. 14: 603-614 False 2 0;0;0 1.95 False ENSG00000135100 ENSG00000135100 HGNC:11621 KIT gene KIT Expert Review Amber;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastro-Intestinal Stromal Tumor 9697690;28314314 False 2 0;0;0 1.95 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157404 ENSG00000157404 HGNC:6342 MITF gene MITF Expert Review Amber;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Melanoma Bertolotto C, et al., 2011 Nature 480, 94-8 A SUM Oylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma False 2 0;0;0 1.95 False Other - please provide details in the comments ENSG00000187098 ENSG00000187098 HGNC:7105 PDGFRA gene PDGFRA Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes Unknown "Gastrointestinal stromal tumor, somatic 606764;Hypereosinophilic syndrome, idiopathic, resistant to imatinib 607685 " False 2 0;0;0 1.95 False ENSG00000134853 ENSG00000134853 HGNC:8803 PDGFRB gene PDGFRB Expert Review Amber;Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550 23731537;23731542 False 2 0;0;0 1.95 False ENSG00000113721 ENSG00000113721 HGNC:8804 PIK3CA gene PIK3CA Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes Unknown Breast cancer, somatic 114480;CLOVE syndrome, somatic 612918;Colorectal cancer, somatic 114500;Cowden syndrome 5 615108;Gastric cancer, somatic 613659;Hepatocellular carcinoma, somatic 114550;Keratosis, seborrheic, somatic 182000;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501;Nevus, epidermal, somatic 162900;Nonsmall cell lung cancer, somatic 211980;Ovarian cancer, somatic 167000 False 2 0;0;0 1.95 False ENSG00000121879 ENSG00000121879 HGNC:8975 PPM1D gene PPM1D Expert Review Amber;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes Other - please specify in evaluation comments Breast cancer; Ovarian cancer False 2 0;0;0 1.95 False ENSG00000170836 ENSG00000170836 HGNC:9277 PRSS1 gene PRSS1 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatitis, hereditary 167800 False 2 0;0;0 1.95 False ENSG00000204983 ENSG00000204983 HGNC:9475 PRSS2 gene PRSS2 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pancreatitis, chronic, protection against} 167800 False 2 0;0;0 1.95 False - ENSG00000275896 HGNC:9483 SPINK1 gene SPINK1 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pancreatitis, hereditary 167800;Tropical calcific pancreatitis 608189;{Fibrocalculous pancreatic diabetes, susceptibility to} 608189 False 2 0;0;0 1.95 False ENSG00000164266 ENSG00000164266 HGNC:11244 SPRED1 gene SPRED1 Expert Review Amber;UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Legius syndrome 611431" False 2 0;0;0 1.95 False ENSG00000166068 ENSG00000166068 HGNC:20249 VSIG10L gene VSIG10L Expert Review Amber;Literature Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Barrett Neoplasia 27467440 False 2 0;0;100 1.95 False ENSG00000186806 ENSG00000186806 HGNC:27111