Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
5 cases from 4 families with biallelic variants and POI
PMID: 30207912 - 2 sisters with biallelic variants and ovarian dysgenesis as a feature of the condition. Also, supporting Drosophila model.
PMID: 30865812 - premature ovarian insufficiency present in 2 unrelated cases with biallelic variants
PMID: 32482800 - a homozygous hypomorphic BRCA2 variant in a patient with POI without cancer or FA
Sources: LiteratureCreated: 29 Nov 2021, 6:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1 MIM#605724; premature ovarian failure
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group D1 MIM#605724
- premature ovarian failure
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: brca2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: brca2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BRCA2 was added gene: BRCA2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 34794894; 30207912; 30865812 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 MIM#605724; premature ovarian failure Review for gene: BRCA2 was set to GREEN