Breast Cancer
Gene: BARD1EnsemblGeneIds (GRCh38): ENSG00000138376
EnsemblGeneIds (GRCh37): ENSG00000138376
OMIM: 601593, Gene2Phenotype
BARD1 is in 3 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert ReviewCreated: 25 Sep 2024, 11:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer, MONDO:0007254; BARD1-related cancer predisposition, MONDO:0700267; Breast cancer, susceptibility to, MIM#114480
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Breast cancer, MONDO:0007254
- BARD1-related cancer predisposition, MONDO:0700267
- Breast cancer, susceptibility to, MIM#114480
- OMIM
- 601593
- Clinvar variants
- Variants in BARD1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bard1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: bard1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: BARD1 was added gene: BARD1 was added to Breast Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BARD1 were set to Breast cancer, MONDO:0007254; BARD1-related cancer predisposition, MONDO:0700267; Breast cancer, susceptibility to, MIM#114480 Review for gene: BARD1 was set to GREEN