Bone Marrow Failure
Gene: BRCA1EnsemblGeneIds (GRCh38): ENSG00000012048
EnsemblGeneIds (GRCh37): ENSG00000012048
OMIM: 113705, Gene2Phenotype
BRCA1 is in 17 panels
2 reviews
Santosh Varughese (University of Melbourne)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group S
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert listCreated: 6 Apr 2020, 1:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group S, MIM# 617883
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group S, MIM# 617883
- OMIM
- 113705
- Clinvar variants
- Variants in BRCA1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Chromosome Breakage Disorders
- Additional findings_Adult
- Prostate Cancer
- Breast Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Endometrial Cancer
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brca1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brca1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BRCA1 was added gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865 Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883 Review for gene: BRCA1 was set to GREEN