Additional findings health related - CNV analysis adult specific
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 28 panels
0 reviews
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
- 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 Adult only; Breast and ovarian cancer predisposition to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Adult only
Set Phenotypes, Set transcript, Added Tag
Eleanor Williams (Genomics England Curator)Phenotypes for gene: BRCA1 were changed from Adult only; ENST00000357654.8; Breast and ovarian cancer predisposition to Adult only; Breast and ovarian cancer predisposition Transcript for gene BRCA1 was changed from None to ENST00000357654.8; NM_007294.3 Tag adult-onset tag was added to BRCA1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: BRCA1 was added gene: BRCA1 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BRCA1 were set to Adult only; ENST00000357654.8; Breast and ovarian cancer predisposition