Early onset pancytopenia and red cell disorders
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fanconi anemia
- {Breast-ovarian cancer, familial, 2}, 612555
- Fanconi anemia, complementation group D1, 605724
- Prostate cancer, 176807
- {Breast cancer, male, susceptibility to}, 114480
- Wilms tumor, 194070
- {Medulloblastoma}, 155255
- {Glioblastoma 3}, 613029
- Pancreatic cancer, 613347
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- NICE approved PARP inhibitor treatment
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Limb disorders
- Severe microcephaly
- Fetal anomalies
- Inherited prostate cancer
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Inherited breast cancer and ovarian cancer
- Familial melanoma
- Childhood solid tumours cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Monogenic short stature
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- 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
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list