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 APC gene APC Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis False 3 100;0;0 2.35 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 100;0;0 2.35 False ENSG00000149311 ENSG00000149311 HGNC:795 BAP1 gene BAP1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tumor predisposition syndrome 1, OMIM:614327;{Uveal melanoma, susceptibility to, 2}, OMIM:606661 False 3 100;0;0 2.35 False ENSG00000163930 ENSG00000163930 HGNC:950 BMPR1A gene BMPR1A Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Mixed Polyposis Syndrome False 3 100;0;0 2.35 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370;Fanconi anemia, complementation group S, OMIM:617883 False 3 100;0;0 2.35 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480;{Prostate cancer}, OMIM:176807 False 3 100;0;0 2.35 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast cancer, early-onset, susceptibility to}, OMIM:114480 False 3 100;0;0 2.35 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 23875798 False 3 100;0;0 2.35 False ENSG00000110395 ENSG00000110395 HGNC:1541 CDC73 gene CDC73 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperparathyroidism-Jaw Tumor Syndrome False 3 100;0;0 2.35 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDH1 gene CDH1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215 False 3 100;0;0 2.35 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDK4 gene CDK4 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Melanoma False 3 100;0;0 2.35 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 list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia, type IV, OMIM:610755;Thyroid cancer;Pituitary adenoma False 3 100;0;0 2.35 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2A gene CDKN2A Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Melanoma, cutaneous malignant, 2}, OMIM:155601;{Melanoma and neural system tumor syndrome}, OMIM:155755;{Melanoma-pancreatic cancer syndrome}, OMIM:606719 False 3 100;0;0 2.35 False ENSG00000147889 ENSG00000147889 HGNC:1787 DDB2 gene DDB2 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 12812979;21107348;26884178;104693112 False 3 100;0;0 2.35 False ENSG00000134574 ENSG00000134574 HGNC:2718 DICER1 gene DICER1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800;Pleuropulmonary blastoma, OMIM:601200;Pleuropulmonary blastoma, MONDO:0011014;Rhabdomyosarcoma, embryonal, 2, OMIM:180295;Embryonal rhabdomyosarcoma (disease), MONDO:0009993;DICER1 syndrome False 3 100;0;0 2.35 False ENSG00000100697 ENSG00000100697 HGNC:17098 EPCAM gene EPCAM Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 False 3 100;0;0 2.35 False ENSG00000119888 ENSG00000119888 HGNC:11529 ERCC2 gene ERCC2 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D, 278730 26884178;28376890 False 3 100;0;0 2.35 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, 610651 26884178;16947863 False 3 100;0;0 2.35 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, group F, 278760 False 3 100;0;0 2.35 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G, 278780 26884178;10026181;7951246;11841555;9096355;23255472;1206391 False 3 100;0;0 2.35 False ENSG00000134899 ENSG00000134899 HGNC:3437 FANCA gene FANCA Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi anemia, complementation group B, 300514 False 3 100;0;0 2.35 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 2.35 False ENSG00000115392 ENSG00000115392 HGNC:20748 FH gene FH Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leiomyomatosis and renal cell cancer, OMIM:150800 False 3 100;0;0 2.35 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown renal oncocytoma False 3 100;0;0 2.35 False ENSG00000154803 ENSG00000154803 HGNC:27310 HRAS gene HRAS Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome 23875798 False 3 100;0;0 2.35 False ENSG00000174775 ENSG00000174775 HGNC:5173 KIT gene KIT Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor, familial, OMIM:606764 False 3 100;0;0 2.35 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 KRAS gene KRAS Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2 615278 23875798 False 3 100;0;0 2.35 False ENSG00000133703 ENSG00000133703 HGNC:6407 MAX gene MAX Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pheochromocytoma, susceptibility to}, OMIM:171300;Familial Pheochromocytoma, adrenal False 3 100;0;0 2.35 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 3 100;0;0 2.35 False ENSG00000133895 ENSG00000133895 HGNC:7010 MET gene MET Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cell cancer, papillary carcinoma False 3 100;0;0 2.35 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 list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 2.35 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 2.35 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 2.35 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 67;0;33 2.35 False ENSG00000132781 ENSG00000132781 HGNC:7527 NF1 gene NF1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis False 3 100;0;0 2.35 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acoustic neuroma False 3 100;0;0 2.35 False ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardio-Facio-cutanenous syndrome;Noonan syndrome 6 613224;CFC Syndrome 23875798 False 3 100;0;0 2.35 False ENSG00000213281 ENSG00000213281 HGNC:7989 NTHL1 gene NTHL1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 100;0;0 2.35 False ENSG00000065057 ENSG00000065057 HGNC:8028 PALB2 gene PALB2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group N, 610832;{Breast cancer, susceptibility to}, 114480;{Pancreatic cancer, susceptibility to, 3}, 613348;High Risk Breast Cancer;Breast and Ovarian Cancer 17200672;17200668;17287723;18053174;19264984;22241545;23448497;24556926;25099575;25337758;33811135 False 3 100;0;0 2.35 False ENSG00000083093 ENSG00000083093 HGNC:26144 PMS2 gene PMS2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 2.35 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer; Endometrial cancer False 3 100;0;0 2.35 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer False 3 100;0;0 2.35 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLH gene POLH Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 24877075;11773631;26884178;30511002 False 3 100;0;0 2.35 False ENSG00000170734 ENSG00000170734 HGNC:9181 PTCH1 gene PTCH1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400;Gorlin syndrome False 3 100;0;0 2.35 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome False 3 100;0;0 2.35 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 23875798 False 3 100;0;0 2.35 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAD51C gene RAD51C Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ovarian cancer False 3 100;0;0 2.35 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer False 3 100;0;0 2.35 False ENSG00000185379 ENSG00000185379 HGNC:9823 RAF1 gene RAF1 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 2 611554;Noonan syndrome 5 611553 23875798 False 3 100;0;0 2.35 False ENSG00000132155 ENSG00000132155 HGNC:9829 RB1 gene RB1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma False 3 100;0;0 2.35 False ENSG00000139687 ENSG00000139687 HGNC:9884 RET gene RET Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 3 100;0;0 2.35 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 RTEL1 gene RTEL1 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 615190;615190 DC type 4 and 5;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related;Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis congenita, autosomal recessive 5, 615190;615190 Dyskeratosis congenita;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 24582487 False 3 100;0;0 2.35 False ENSG00000258366 ENSG00000258366 HGNC:15888 SDHA gene SDHA Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown gastrointestinal stromal tumors False 3 100;0;0 2.35 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 2.35 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paragangliomas 4, OMIM:115310;Pheochromocytoma, OMIM:171300;Paraganglioma and gastric stromal sarcoma, OMIM:606864;Gastrointestinal stromal tumor, OMIM:606764 False 3 100;0;0 2.35 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 2.35 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 2.35 False ENSG00000204370 ENSG00000204370 HGNC:10683 SHOC2 gene SHOC2 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair 23875798 False 3 100;0;0 2.35 False ENSG00000108061 ENSG00000108061 HGNC:15454 SMAD4 gene SMAD4 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis False 3 100;0;0 2.35 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown predisposition to small cell ca ;Ovary with hypercalcemia False 3 100;0;0 2.35 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atypical rhabdoid tumor predisposition False 3 100;0;0 2.35 False ENSG00000099956 ENSG00000099956 HGNC:11103 SOS1 gene SOS1 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 23875798 False 3 100;0;0 2.35 False ENSG00000115904 ENSG00000115904 HGNC:11187 STK11 gene STK11 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz Jeghers syndrome False 3 100;0;0 2.35 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400;{Medulloblastoma}, OMIM:155255;{Meningioma, familial, susceptibility to}, OMIM:607174 False 3 100;0;0 2.35 False ENSG00000107882 ENSG00000107882 HGNC:16466 TERC gene TERC Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 1, 127550 22285015 False 3 100;0;0 2.35 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742;{Leukemia, acute myeloid}, OMIM:601626;{Melanoma, cutaneous malignant, 9}, OMIM:615134 22285015 False 3 100;0;0 2.35 False ENSG00000164362 ENSG00000164362 HGNC:11730 TMEM127 gene TMEM127 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Pheochromocytoma, adrenal False 3 100;0;0 2.35 False ENSG00000135956 ENSG00000135956 HGNC:26038 TP53 gene TP53 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li Fraumeni Syndrome False 3 100;0;0 2.35 False ENSG00000141510 ENSG00000141510 HGNC:11998 TSC1 gene TSC1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 1 False 3 100;0;0 2.35 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 2 False 3 100;0;0 2.35 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma;VON HIPPEL-LINDAU (VHL) SYNDROME, 193300 False 3 100;0;0 2.35 False ENSG00000134086 ENSG00000134086 HGNC:12687 WRAP53 gene WRAP53 Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 22285015 False 3 100;0;0 2.35 False ENSG00000141499 ENSG00000141499 HGNC:25522 WT1 gene WT1 Expert list;Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Wilms tumor False 3 100;0;0 2.35 False ENSG00000184937 ENSG00000184937 HGNC:12796 XPA gene XPA Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 21097776;26975629;30565713 False 3 100;0;0 2.35 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;NHS GMS Adult solid tumours cancer susceptibility Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 21097776;26975629;30565713 False 3 100;0;0 2.35 False ENSG00000154767 ENSG00000154767 HGNC:12816