Additional findings health related
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_000059.3Created: 21 May 2018, 3:52 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- {Breast-ovarian cancer, familial, 2}, OMIM:612555
- {Breast cancer, male, susceptibility to}, OMIM:114480
- Adult only
- Transcripts
-
- ENST00000544455.5
- NM_000059.3
- Tags
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- None
- Panels with this gene
-
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Limb disorders
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- 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
- 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 Breast and ovarian cancer predisposition; Adult only to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; Adult only
Set transcript
Catherine Snow (Genomics England)Transcript for gene BRCA2 was changed from ENST00000544455.5 to ENST00000544455.5; NM_000059.3
Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from BRCA2. Source ACMG was removed from BRCA2. Source Expert list was added to BRCA2. Phenotypes for gene: BRCA2 were changed from ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only Transcript for gene BRCA2 was changed from None to ENST00000544455.5
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: BRCA2 were changed from NM_000059.3; Breast and ovarian cancer predisposition; Adult only to ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for BRCA2 were set to NM_000059.3; Breast and ovarian cancer predisposition; Adult only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BRCA2 were set to Breast and ovarian cancer predisposition; Adult only
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)BRCA2 was created by Ellen McDonagh