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;NHS GMS Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer;Pituitary adenoma, growth hormone-secreting, 102200;pituitary tumours;Familial Isolated Pituitary Adenomas;Pituitary adenoma, prolactin-secreting, 600634;Pituitary adenoma, ACTH-secreting, 219090 False 3 100;0;0 3.3 True ENSG00000110711 ENSG00000110711 HGNC:358 CDC73 gene CDC73 Expert Review Green;NHS GMS Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer False 3 100;0;0 3.3 True ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1B gene CDKN1B Expert Review Green;NHS GMS Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia, type IV, OMIM:610755 False 3 100;0;0 3.3 True ENSG00000111276 ENSG00000111276 HGNC:1785 MEN1 gene MEN1 Expert Review Green;NHS GMS Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer;pituitary tumours;Multiple Endocrine Neoplasia Type 1: MEN1 Gene Deletion/Duplication;Parathyroid adenoma, somatic;Multiple endocrine neoplasia 1, 131100;Carcinoid tumor of lung;Angiofibroma, somatic;Adrenal adenoma, somatic;Lipoma, somatic;MEN1-like spectrum;Multiple Endocrine Neoplasia False 3 100;0;0 3.3 True ENSG00000133895 ENSG00000133895 HGNC:7010 PRKAR1A gene PRKAR1A Expert Review;Expert Review Green Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Endocrine Cancer False 3 0;100;0 3.3 False ENSG00000108946 ENSG00000108946 HGNC:9388 RET gene RET Expert Review Green;NHS GMS Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MEN2-like spectrum;Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication;Multiple endocrine neoplasia IIA, 171400;Endocrine Cancer;Multiple Endocrine Neoplasia False 3 100;0;0 3.3 True ENSG00000165731 ENSG00000165731 HGNC:9967 VHL gene VHL Expert Review;Expert Review Green Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Endocrine Cancer;Paragangliomas 1, with or without deafness, 168000;Pheochromocytoma, 171300;Carcinoid tumors, intestinal, 114900;Merkel cell carcinoma, somatic;Paraganglioma and gastric stromal sarcoma, 606864;Cowden syndrome 3, 615106 False 3 0;100;0 3.3 False ENSG00000134086 ENSG00000134086 HGNC:12687 EGFR gene EGFR Expert Review Amber;Literature Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adrenocortical carcinoma 33326033 False 2 0;100;0 3.3 False ENSG00000146648 ENSG00000146648 HGNC:3236 MLH1 gene MLH1 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000116062 ENSG00000116062 HGNC:7329 PMS2 gene PMS2 Expert Review;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000122512 ENSG00000122512 HGNC:9122 PTEN gene PTEN Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000171862 ENSG00000171862 HGNC:9588 TP53 gene TP53 Expert Review;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Endocrine Cancer;Paragangliomas 1, with or without deafness, 168000;Pheochromocytoma, 171300;Carcinoid tumors, intestinal, 114900;Merkel cell carcinoma, somatic;Paraganglioma and gastric stromal sarcoma, 606864;Cowden syndrome 3, 615106 False 2 0;100;0 3.3 False ENSG00000141510 ENSG00000141510 HGNC:11998