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 CDC73 gene CDC73 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism, familial primary, 145000; Hyperparathyroidism-jaw tumor syndrome, 145001; Parathyroid adenoma with cystic changes, 145001; Parathyroid carcinoma, 608266;Parathyroid Carcinoma;Pituitary Cancer, Parathyroid and Hypercalcemia;Parathyroid Cancer False 3 100;0;0 1.4 True ENSG00000134371 ENSG00000134371 HGNC:16783 MEN1 gene MEN1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, 131100; Carcinoid tumor of lung; Parathyroid adenoma, somatic; Lipoma, somatic; Angiofibroma, somatic; Adrenal adenoma, somatic;Pituitary Cancer, Parathyroid and Hypercalcemia False 3 100;0;0 1.4 True ENSG00000133895 ENSG00000133895 HGNC:7010 AIP gene AIP Expert Review Red;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes Pituitary Cancer, Parathyroid and Hypercalcemia False 1 0;0;100 1.4 True ENSG00000110711 ENSG00000110711 HGNC:358 CASR gene CASR Expert Review Red;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes Pituitary Cancer, Parathyroid and Hypercalcemia False 1 0;0;100 1.4 True ENSG00000036828 ENSG00000036828 HGNC:1514 CDKN1B gene CDKN1B UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes Multiple endocrine neoplasia, type IV, OMIM:610755;Pituitary Cancer, Parathyroid and Hypercalcemia False 1 0;0;100 1.4 False ENSG00000111276 ENSG00000111276 HGNC:1785 PRKAR1A gene PRKAR1A Expert Review Red;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes Pituitary Cancer, Parathyroid and Hypercalcemia False 1 0;100;0 1.4 True ENSG00000108946 ENSG00000108946 HGNC:9388 RET gene RET Expert Review Red;UKGTN Parathyroid Cancer Breast and endocrine Tumour syndromes Pituitary Cancer, Parathyroid and Hypercalcemia False 1 0;0;0 1.4 True ENSG00000165731 ENSG00000165731 HGNC:9967