Radial dysplasia
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
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Fanconi anemia, complementation group D1, OMIM:605724
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- NICE approved PARP inhibitor treatment
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Familial melanoma
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- DDG2P
- Intellectual disability
- Prostate cancer pertinent cancer susceptibility
- Monogenic short stature
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724 to Fanconi anemia, complementation group D1, OMIM:605724
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for BRCA2 were set to Fanconi anemia, complementation group D1, 605724
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for BRCA2 were set to Fanconi anemia, complementation group D1 605724
Set publications
Helen Brittain (Genomics England Curator)Publications for BRCA2 were set to 11239453; 12065746; 14670928; 28185119
Upload gene information
Rebecca Foulger (Genomics England curator)BRCA2 was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)BRCA2 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)BRCA2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)BRCA2 was added to Radial dysplasiapanel. Source: UKGTN
Created
Rebecca Foulger (Genomics England curator)BRCA2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)BRCA2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing