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 AIP gene AIP Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary adenoma;Multiple endocrine tumours False 3 0;0;0 1.95 False ENSG00000110711 ENSG00000110711 HGNC:358 ALK gene ALK Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroblastoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000171094 ENSG00000171094 HGNC:427 APC gene APC Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Adenomatous Polyposis (FAP); Gardner Syndrome; Turcot Syndrome; Colorectal cancer, adenoma ;Familial colon cancer;Multiple bowel polyps;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Ataxia-Telangiectasia (biallelic mutations); Lymphoid hematological malignancy (leukemia, lymphoma) (biallelic mutations); Breast cancer (monoallelic mutations) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000149311 ENSG00000149311 HGNC:795 BAP1 gene BAP1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome, 614327;Tumor Predisposition Syndrome;Melanoma (cutaneous, uveal); Mesothelioma; Meningioma; Lung cancer (adenocarcinoma) False 3 0;0;0 1.95 False ENSG00000163930 ENSG00000163930 HGNC:950 BLM gene BLM Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome; Lymphoid hematological malignancy; Myeloid hematological malignancy; Squamous cell carcinoma; Gastrointestinal cancers;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000197299 ENSG00000197299 HGNC:1058 BMPR1A gene BMPR1A Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile Polyposis Syndrome; Colorectal cancer, hamartoma ;Familial colon cancer;Multiple bowel polyps False 3 0;0;0 1.95 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer; Ovarian cancer;Familial breast cancer False 3 0;0;0 1.95 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi Anemia (D1) (biallelic mutations); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations); Medulloblastoma (biallelic mutations); Wilms tumor (biallelic mutations); Breast cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations); Prostate cancer (monoallelic mutations); Pancreatic cancer (monoallelic mutations);Familial breast cancer;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi Anemia (J) (biallelic mutations); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations); Squamous cell carcinoma (head and neck, esophagus, genital tract) (biallelic mutations); Breast cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1B gene BUB1B Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic Variegated Aneuploidy Syndrome Wilms Tumor; Rhabdomyosarcoma; Myeloid hematological malignancy;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paediatric congenital malformation-dysmorphism-tumour syndromes 20619386 False 3 0;0;0 1.95 False ENSG00000110395 ENSG00000110395 HGNC:1541 CDC73 gene CDC73 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-Jaw Tumor Syndrome; Parathyroid cancer, adenoma; Ossifying fibroma (bone);Multiple endocrine tumours;Paediatric congenital malformation-dysmorphism-tumour syndromes ;Parathyroid Cancer False 3 0;0;0 1.95 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDH1 gene CDH1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Diffuse Gastric Cancer; Breast cancer (lobular); Gastric cancer (diffuse);Familial breast cancer False 3 0;0;0 1.95 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDK4 gene CDK4 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melanoma;Malignant Melanoma False 3 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 ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN1B gene CDKN1B Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine tumours False 3 0;0;0 1.95 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN1C gene CDKN1C Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann Syndrome; Embryonal tumors;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDKN2A gene CDKN2A Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Melanoma(p16 and p14ARF);Pancreatic cancer (p16 only);Astrocytoma (p14ARF only);Malignant Melanoma False 3 0;0;0 1.95 False ENSG00000147889 ENSG00000147889 HGNC:1787 DICER1 gene DICER1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DICER1 Syndrome; Pleuropulmonary blastoma; Cystic nephroma; Ovarian sex cord tumor;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Perlman Syndrome; Wilms tumor;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000144535 ENSG00000144535 HGNC:28648 ERCC4 gene ERCC4 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (F); Basal cell carcinoma; Squamous cell carcinoma; Melanoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000175595 ENSG00000175595 HGNC:3436 EZH2 gene EZH2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver Syndrome; Lymphoid hematological malignancies (lymphoma, lymphoblastic leukemia); neuroblastoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000106462 ENSG00000106462 HGNC:3527 FANCA gene FANCA Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (A); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi Anemia (B); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia ( C ); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (D2); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (E); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (F); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (G); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (I); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (L); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000115392 ENSG00000115392 HGNC:20748 FH gene FH Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC); Renal cell cancer; Leiomyosarcoma (uterus); Leiomyomata (cutaneous, uterus);Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube Syndrome; Renal cell cancer, oncocytoma False 3 0;0;0 1.95 True ENSG00000154803 ENSG00000154803 HGNC:27310 GPC3 gene GPC3 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel Syndrome; Wilms tumor; Hepatoblastoma; hepatocellular carcinoma; Neuroblastoma; Gonadoblastoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000147257 ENSG00000147257 HGNC:4451 HRAS gene HRAS Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello Syndrome; Rhabdomyosarcoma; Neuroblastoma; Transitional cell carcinoma (bladder);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000174775 ENSG00000174775 HGNC:5173 LZTR1 gene LZTR1 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Tumours Syndromes of the central & peripheral Nervous system PubMed: 24362817 False 3 0;0;0 1.95 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAX gene MAX Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paraganglioma-Pheochromocytoma Syndrome; Paraganglioma; Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple Endocrine Neoplasia Type 1; Parathyroid adenoma; Pituitary adenoma; Neuroendocrine tumor (gastro-entero-pancreatic tract); Carcinoid tumor; Adrenocortical carcinoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL;Parathyroid Cancer False 3 0;0;0 1.95 False ENSG00000133895 ENSG00000133895 HGNC:7010 MET gene MET Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cell cancer (papillary carcinoma) False 3 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 ENSG00000105976 ENSG00000105976 HGNC:7029 MLH1 gene MLH1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal MMR deficiency syndrome (biallelic mutations); Lynch Syndrome (monoallelic mutations); Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations); Brain tumors (biallelic mutations); Hematological malignancy (biallelic mutations); Embryonal tumors (biallelic mutations); Colorectal cancer (monoallelic mutations); Endometrial cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations);Familial colon cancer;Familial Tumours Syndromes of the central & peripheral Nervous system;Genodermatoses with malignancies;Multiple bowel polyps;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal MMR deficiency syndrome (biallelic mutations); Lynch Syndrome (monoallelic mutations); Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations); Brain tumors (biallelic mutations); Hematological malignancy (biallelic mutations); Embryonal tumors (biallelic mutations); Colorectal cancer (monoallelic mutations); Endometrial cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations); Sebaceous adenoma, carcinoma, epithelioma (monoallelic mutations);Familial colon cancer;Familial Tumours Syndromes of the central & peripheral Nervous system;Genodermatoses with malignancies;Multiple bowel polyps;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal MMR deficiency syndrome (biallelic mutations); Lynch Syndrome (monoallelic mutations); Hereditary Non-Polyposis Colon Cancer (HNPCC) (monoallelic mutations); Brain tumors (biallelic mutations); Hematological malignancy (biallelic mutations); Embryonal tumors (biallelic mutations); Colorectal cancer (monoallelic mutations); Endometrial cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations);Familial colon cancer;Familial Tumours Syndromes of the central & peripheral Nervous system;Genodermatoses with malignancies;Multiple bowel polyps;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Colorectal cancer, adenoma;Familial colon cancer;Multiple bowel polyps False 3 0;0;0 1.95 False ENSG00000132781 ENSG00000132781 HGNC:7527 NBN gene NBN Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen Breakage Syndrome Lymphoid hematological malignancy; Medulloblastoma; Glioma; Rhabdomyosarcoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis Type 1; Glioma; Malignant peripheral nerve sheath tumor;Familial Tumours Syndromes of the central & peripheral Nervous system;Neuro-endocrine Tumours- PCC and PGL;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis Type 2Vestibular schwannoma; Meningioma; Ependymoma;Familial Tumours Syndromes of the central & peripheral Nervous system;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000186575 ENSG00000186575 HGNC:7773 NSD1 gene NSD1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos Syndrome; Neuroblastoma; Presacral ganglioma; Sacrococcygeal teratoma; Lymphoid hematological malignancy (leukemia);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000165671 ENSG00000165671 HGNC:14234 NTHL1 gene NTHL1 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Familial colon cancer;Multiple bowel polyps Weren, Robbert DA, et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nature genetics 47.6 (2015): 668-671. False 3 0;0;0 1.95 False ENSG00000065057 ENSG00000065057 HGNC:8028 PALB2 gene PALB2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi Anemia (N) (biallelic mutations); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations); Medulloblastoma (biallelic mutations); Neuroblastoma (biallelic mutations); Wilms tumor (biallelic mutations); Breast cancer (monoallelic mutations); Pancreatic cancer (monoallelic mutations);Familial breast cancer;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000083093 ENSG00000083093 HGNC:26144 PHOX2B gene PHOX2B Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroblastoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000109132 ENSG00000109132 HGNC:9143 PMS2 gene PMS2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal MMR deficiency syndrome (biallelic mutations); Lynch Syndrome (monoallelic mutations); Hereditary Non-Polyposis Colon Cancer (HNPCC)(monoallelic mutations); Brain tumors (biallelic mutations); Hematological malignancy (biallelic mutations);Supratentorial primitive neuroectodermal tumors (biallelic mutations); Colorectal cancer (monoallelic mutations); Endometrial cancer (monoallelic mutations); Ovarian cancer (monoallelic mutations);Familial colon cancer;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial colon cancer;Multiple bowel polyps PMID: 26133394 False 3 0;0;0 1.95 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial colon cancer;Multiple bowel polyps PMID: 26133394 False 3 0;0;0 1.95 False ENSG00000177084 ENSG00000177084 HGNC:9177 PRKAR1A gene PRKAR1A Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Carney Complex; Myxoma (cardiac/cutaneous/breast); Thyroid cancer, adenoma; Pituitary adenoma; Testicular cancer (sex cord-stromal tumor); Psammomatous melanotic schwannoma; Adrenal cortical hyperplasia (Primary pigmented nodular adrenocortical disease);Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000108946 ENSG00000108946 HGNC:9388 PTCH1 gene PTCH1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nevoid Basal Cell Carcinoma Syndrome; Gorlin Syndrome; Basal cell carcinoma; Medulloblastoma ;Genodermatoses with malignancies;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden Syndrome; PTEN Hamartoma Tumor Syndrome; Breast cancer; Thyroid cancer, adenoma; Endometrial cancer, leiomyoma; Colorectal cancer, adenoma, hamartoma; Renal cell cancer;Familial breast cancer;Genodermatoses with malignancies;Multiple bowel polyps;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paediatric congenital malformation-dysmorphism-tumour syndromes 25683281 False 3 0;0;0 1.95 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAD51C gene RAD51C Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi Anemia (O) (biallelic mutations); Ovarian cancer (monoallelic mutations);Familial breast cancer;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer ;Familial breast cancer False 3 0;0;0 1.95 False ENSG00000185379 ENSG00000185379 HGNC:9823 RB1 gene RB1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoblastoma; Pinealoma; Sarcoma;Melanoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000139687 ENSG00000139687 HGNC:9884 RECQL4 gene RECQL4 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Rothmund-Thompson SyndromeOsteosarcoma; Basal cell carcinoma; Squamous cell carcinoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000160957 ENSG00000160957 HGNC:9949 REST gene REST Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paediatric congenital malformation-dysmorphism-tumour syndromes 26551668 False 3 0;0;0 1.95 False ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple Endocrine Neoplasia 2A/2B; Familial Medullary Thyroid Carcinoma; Medullary thyroid cancer; Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 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 ENSG00000165731 ENSG00000165731 HGNC:9967 SDHA gene SDHA Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma-Pheochromocytoma Syndrome; Paraganglioma; Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paraganglioma-Pheochromocytoma Syndrome; Paraganglioma; Pheochromocytoma; Renal cell cancer;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paraganglioma-Pheochromocytoma Syndrome; Paraganglioma; Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Familial Paraganglioma-Pheochromocytoma Syndrome; Paraganglioma; Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000204370 ENSG00000204370 HGNC:10683 SLX4 gene SLX4 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (P); Squamous cell carcinoma (head and neck);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD4 gene SMAD4 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile Polyposis Syndrome; Colorectal cancer, hamartoma;Familial colon cancer;Multiple bowel polyps False 3 0;0;0 1.95 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert Review Green;Radboud University Medical Center, Nijmegen Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rhabdoid tumor predisposition syndrome 2, 613325; Mental retardation, autosomal dominant 16, 614609;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rhabdoid Tumor Predisposition Syndrome;Rhabdoid Tumor Predisposition Syndrome 1;Rhabdoid Predisposition Syndrome; Rhabdoid tumor (renal, extra-renal); Choroid plexus carcinoma; Medulloblastoma; Central primitive neuroectodermal tumor;Familial Tumours Syndromes of the central & peripheral Nervous system;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Tumours Syndromes of the central & peripheral Nervous system PMID: 23377182 False 3 0;0;0 1.95 False ENSG00000073584 ENSG00000073584 HGNC:11109 STK11 gene STK11 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers SyndromeColorectal cancer, hamartoma, adenoma; Gastric cancer, hamartoma, adenoma; Breast cancer; Ovarian cancer (epithelial, sex cord-stromal tumor); Testicular cancer (sex cord-stromal tumor); Pancreatic cancer; Cervical cancer (adenoma malignum);Familial breast cancer;Familial colon cancer False 3 0;0;0 1.95 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medulloblastoma;Genodermatoses with malignancies False 3 0;0;0 1.95 False ENSG00000107882 ENSG00000107882 HGNC:16466 TMEM127 gene TMEM127 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pheochromocytoma;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000135956 ENSG00000135956 HGNC:26038 TP53 gene TP53 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni SyndromeBreast cancer; Sarcoma; Adrenocortical carcinoma; Astrocytoma; Glioblastoma;Familial breast cancer;Multiple endocrine tumours;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000141510 ENSG00000141510 HGNC:11998 TRIM37 gene TRIM37 Expert Review Green Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Paediatric congenital malformation-dysmorphism-tumour syndromes 17100991 False 3 0;0;0 1.95 False ENSG00000108395 ENSG00000108395 HGNC:7523 TSC1 gene TSC1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 1Renal cell cancer, angiomyolipoma; Subependymal giant cell astrocytoma; Rhabdomyoma (cardiac); Hamartoma (retinal, gastrointestinal tract);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 2Renal cell cancer, angiomyolipoma; Subependymal giant cell astrocytoma; Rhabdomyoma (cardiac); Hamartoma (retinal, gastrointestinal tract);Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Von Hippel-Lindau Syndrome; Renal cell cancer; Pheochromocytoma; Neuroendocrine tumor (pancreas); Hemangioblastoma (central nervous system, retina);Familial Tumours Syndromes of the central & peripheral Nervous system;Multiple endocrine tumours;Neuro-endocrine Tumours- PCC and PGL False 3 0;0;0 1.95 False ENSG00000134086 ENSG00000134086 HGNC:12687 WT1 gene WT1 Expert Review Green;TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WAGR; Denys-Drash Syndrome; Frasier Syndrome Wilms tumor; Gonadoblastoma;Paediatric congenital malformation-dysmorphism-tumour syndromes False 3 0;0;0 1.95 False ENSG00000184937 ENSG00000184937 HGNC:12796 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 CEBPA gene CEBPA TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myeloid hematological malignancy (leukemia) False 1 0;0;0 1.95 False ENSG00000245848 ENSG00000245848 HGNC:1833 CEP57 gene CEP57 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic Variegated Aneuploidy Syndrome False 1 0;0;0 1.95 False ENSG00000166037 ENSG00000166037 HGNC:30794 CYLD gene CYLD TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Cylindromatosis; Brooke-Spiegler Syndrome; Familial Multiple Trichoepithelioma-1; Cylindroma; Trichoepithelioma; Spiradenoma False 1 0;0;0 1.95 False ENSG00000083799 ENSG00000083799 HGNC:2584 DDB2 gene DDB2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Xeroderma Pigmentosum (E); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000134574 ENSG00000134574 HGNC:2718 EGFR gene EGFR TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Non-small cell lung cancer False 1 0;0;0 1.95 False ENSG00000146648 ENSG00000146648 HGNC:3236 ERCC2 gene ERCC2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (D); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (B); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (G); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000134899 ENSG00000134899 HGNC:3437 ESR1 gene ESR1 Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Estrogen resistance, 615363; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480 False 1 0;0;0 1.95 False ENSG00000091831 ENSG00000091831 HGNC:3467 EXT1 gene EXT1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chondrosarcoma False 1 0;0;0 1.95 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chondrosarcoma False 1 0;0;0 1.95 False ENSG00000151348 ENSG00000151348 HGNC:3513 FANCM gene FANCM Expert Review Red;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (M); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes 16116422;19423727;25078778 False 1 0;0;0 1.95 False ENSG00000187790 ENSG00000187790 HGNC:23168 FAP gene FAP Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Colorectal cancer False 1 0;0;0 1.95 False ENSG00000078098 ENSG00000078098 HGNC:3590 FOXO1 gene FOXO1 Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Rhabdomyosarcoma alveolar False 1 0;0;0 1.95 False ENSG00000150907 ENSG00000150907 HGNC:3819 FOXO3 gene FOXO3 Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted " Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes " 25208626 False 1 0;0;0 1.95 False ENSG00000118689 ENSG00000118689 HGNC:3821 GATA2 gene GATA2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emberger Syndrome; Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) False 1 0;0;0 1.95 False ENSG00000179348 ENSG00000179348 HGNC:4171 GDNF gene GDNF Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711 False 1 0;0;0 1.95 False ENSG00000168621 ENSG00000168621 HGNC:4232 GREM1 gene GREM1 Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217); Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); Polyposis Syndrome, Hereditary Mixed, 1; Hereditary Mixed Polyposis Syndrome Nat Genet. 2012 May 6 44(6):699-703. doi: 10.1038/ng.2263. False 1 0;0;0 1.95 False ENSG00000166923 ENSG00000166923 HGNC:2001 HOXB13 gene HOXB13 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Prostate cancer False 1 0;0;0 1.95 False ENSG00000159184 ENSG00000159184 HGNC:5112 PRF1 gene PRF1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Familial Hemophagocytic Lymphohistiocytosis; Lymphoid hematological malignancy (lymphoma) False 1 0;0;0 1.95 False ENSG00000180644 ENSG00000180644 HGNC:9360 RHBDF2 gene RHBDF2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Esophageal cancer False 1 0;0;0 1.95 False ENSG00000129667 ENSG00000129667 HGNC:20788 RUNX1 gene RUNX1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myeloid hematological malignancy (leukemia) False 1 0;0;0 1.95 False ENSG00000159216 ENSG00000159216 HGNC:10471 SBDS gene SBDS TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Schwachman-Diamond Syndrome; Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) False 1 0;0;0 1.95 False ENSG00000126524 ENSG00000126524 HGNC:19440 WRN gene WRN TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Werner Syndrome; Sarcoma; Melanoma; Thyroid cancer False 1 0;0;0 1.95 False ENSG00000165392 ENSG00000165392 HGNC:12791 XPA gene XPA TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum (A) Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum (C) Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000154767 ENSG00000154767 HGNC:12816