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 ATM gene ATM Expert Review Green Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast cancer, susceptibility to}, OMIM:114480 35084436 False 3 100;0;0 2.11 False ENSG00000149311 ENSG00000149311 HGNC:795 BRCA1 gene BRCA1 Expert Review Green;NHS GMS Inherited breast cancer and ovarian cancer BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370 False 3 100;0;0 2.11 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, 2}, OMIM:612555 False 3 100;0;0 2.11 False ENSG00000139618 ENSG00000139618 HGNC:1101 CHEK2 gene CHEK2 Expert Review Green Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast cancer, susceptibility to}, OMIM:114480 22853031 False 3 100;0;0 2.11 False ENSG00000183765 ENSG00000183765 HGNC:16627 PALB2 gene PALB2 Expert Review Green Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast cancer, susceptibility to}, OMIM:114480 False 3 100;0;0 2.11 False ENSG00000083093 ENSG00000083093 HGNC:26144 RAD51C gene RAD51C Expert list;Expert Review Green;NHS GMS Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399 False 3 0;0;0 2.11 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert list;Expert Review Green;NHS GMS Inherited breast cancer and ovarian cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291 False 3 0;0;0 2.11 False ENSG00000185379 ENSG00000185379 HGNC:9823