Additional findings_Adult
Gene: BRCA2
BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 22 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast-ovarian cancer, familial, 2, MIM#612555
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Breast-ovarian cancer, familial, 2, MIM#612555
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Panels with this gene
-
- Chromosome Breakage Disorders
- Additional findings_Adult
- Prostate Cancer
- Microcephaly
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Radial Ray Abnormalities
- Medulloblastoma
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Congenital diaphragmatic hernia
- Wilms Tumour
- Growth failure
History Filter Activity
30 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brca2 has been classified as Green List (High Evidence).
30 Jul 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555
30 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BRCA2 was added gene: BRCA2 was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: BRCA2 was set to Unknown