This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: BRCA2
BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
EnsemblGeneIds (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
- Phenotypes
-
- {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
- {Glioblastoma 3},
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Panels with this gene
-
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Familial melanoma
- Haematological malignancies cancer susceptibility
- DDG2P
- NICE approved PARP inhibitor treatment
- Monogenic short stature
- Fetal anomalies
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited breast cancer and ovarian cancer
- Inherited prostate cancer
- Inherited pancreatic cancer
- 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
- Limb disorders
- 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
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- Childhood solid tumours
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Confirmed Fanconi anaemia or Bloom syndrome
History Filter Activity
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRCA2 was created by ellenmcdonagh