Additional findings health related
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_007294.3Created: 21 May 2018, 3:51 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- {Breast-ovarian cancer, familial, 1}, OMIM:604370
- Breast and ovarian cancer predisposition
- Adult only
- Transcripts
-
- ENST00000357654.8
- NM_007294.3
- Tags
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- NICE approved PARP inhibitor treatment
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Breast cancer pertinent cancer susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from Breast and ovarian cancer predisposition; Adult only to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Breast and ovarian cancer predisposition; Adult only
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only
Set transcript
Catherine Snow (Genomics England)Transcript for gene BRCA1 was changed from ENST00000357654.8 to ENST00000357654.8; NM_007294.3
Removed Source, Removed Source, Added New Source, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from BRCA1. Source ACMG was removed from BRCA1. Source Expert list was added to BRCA1. Transcript for gene BRCA1 was changed from None to ENST00000357654.8
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from NM_007294.3; Breast and ovarian cancer predisposition; Adult only to ENST00000357654.8; Breast and ovarian cancer predisposition; Adult only
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for BRCA1 were set to NM_007294.3; Breast and ovarian cancer predisposition; Adult only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BRCA1 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)BRCA1 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)BRCA1 was created by Ellen McDonagh