Limb disorders
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:34 a.m.
Comment when marking as ready: Evidence of causation of FA in biallelic casesCreated: 28 Feb 2017, 1:14 p.m.
Comment on list classification: Sufficient evidence of causation for FA in biallelic casesCreated: 28 Feb 2017, 1:13 p.m.
Established cause in biallelic cases. Although there is a predisposition to presentation with early onset leukaemia / solid tumours (e.g. medulloblastoma) presentation with anaemia / cytopaenia is also reported. Considered appropriate for inclusion.Created: 20 Feb 2017, 9:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1 605724
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anemia, complementation group D1, OMIM:605724
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Limb disorders
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- NICE approved PARP inhibitor treatment
- Pigmentary skin disorders
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Familial melanoma
- Inherited pancreatic cancer
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; Radial Ray abnormality to Fanconi anemia, complementation group D1, OMIM:605724
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Brittain: Established cause in biallelic
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to BRCA2. Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2 Publications for gene BRCA2 were changed from to 11239453; 12065746; 14670928; 28185119
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)BRCA2 was created by Ellen McDonagh