Microcephaly
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
Ain Roesley (Victorian Clinical Genetics Services)
Approx 75% of FA patients present with microcephaly and approx 3% of FA patients have variants in BRCA2 (GeneReviews)
Sources: LiteratureCreated: 31 Aug 2020, 6:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1 (MIM#605724)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group D1 (MIM#605724)
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- unknown
- Panels with this gene
-
- Chromosome Breakage Disorders
- 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
- Additional findings_Adult
- Congenital diaphragmatic hernia
- Wilms Tumour
- Growth failure
History Filter Activity
31 Aug 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).
31 Aug 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).
31 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: BRCA2 was added gene: BRCA2 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 (MIM#605724) Penetrance for gene: BRCA2 were set to unknown Review for gene: BRCA2 was set to GREEN