Inherited ovarian cancer (without breast cancer)
Gene: BARD1EnsemblGeneIds (GRCh38): ENSG00000138376
EnsemblGeneIds (GRCh37): ENSG00000138376
OMIM: 601593, Gene2Phenotype
BARD1 is in 3 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast cancer, susceptibility to}, OMIM:114480
- OMIM
- 601593
- Clinvar variants
- Variants in BARD1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BARD1 were changed from {Breast cancer, susceptibility to}, 114480; Breast Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: BARD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
Added New Source
Ellen McDonagh (Genomics England Curator)BARD1 was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)BARD1 was created by ellenmcdonagh