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 BRCA1 gene BRCA1 Expert list;Expert Review Green;NHS GMS Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370 False 3 100;0;0 2.8 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480 False 3 100;0;0 2.8 False ENSG00000139618 ENSG00000139618 HGNC:1101 PALB2 gene PALB2 Expert list;Expert Review Green Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer False 3 100;0;0 2.8 False ENSG00000083093 ENSG00000083093 HGNC:26144 TP53 gene TP53 Expert list;Expert Review Green Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer False 3 100;0;0 2.8 False ENSG00000141510 ENSG00000141510 HGNC:11998 ATRIP gene ATRIP Expert Review Amber;Literature Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast cancer 36977412;37592023 False 2 100;0;0 2.8 False ENSG00000164053 ENSG00000164053 HGNC:33499 CDH1 gene CDH1 Expert Review Amber;Literature Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215 15235021;20591882;23709761;25979631;36436516 False 2 100;0;0 2.8 False ENSG00000039068 ENSG00000039068 HGNC:1748 PTEN gene PTEN Expert list;Expert Review Red Breast cancer pertinent cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer False 1 100;0;0 2.8 False ENSG00000171862 ENSG00000171862 HGNC:9588