PanelApp
  1. Genes and Genomic Entities
  2. BRCA1

BRCA1

BRCA1, DNA repair associated
OMIM: 113705, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green BRCA1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group S, MIM# 617883

    Green BRCA1 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group S, MIM# 617883

    Green BRCA1 in Incidentalome


    Version 0.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    • Victorian Clinical Genetics Services
    Phenotypes
    • Breast-ovarian cancer, familial, 1, MIM# 604370

    Green BRCA1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRCA1 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Breast-ovarian cancer, familial, 1, MIM# 604370

    Red BRCA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Breast-ovarian cancer, familial, 1

    Green BRCA1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BRCA1 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fanconi anaemia, complementation group S, MIM# 617883

    Green BRCA1 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fanconi anaemia, complementation group S, MIM# 617883

    Green BRCA1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Fanconi anemia, complementation group S, MIM# 617883
    Tags
    • treatable
    • haematological

    Green BRCA1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Breast-ovarian cancer, familial, 1, MIM# 604370

    Green BRCA1 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Soft tissue sarcoma, MONDO:0018078
    • Sarcoma, MONDO:0005089
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370

    Green BRCA1 in Pancreatic Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Malignant pancreatic neoplasm, MONDO:0009831
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370

    Green BRCA1 in Prostate Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Prostate cancer, MONDO:0008315
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370

    Green BRCA1 in Endometrial Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Endometrial cancer, MONDO:0011962
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370

    Green BRCA1 in Ovarian Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Ovarian cancer, MONDO:0008170
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370

    Green BRCA1 in Breast Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Breast cancer, MONDO:0007254
    • BRCA1-related cancer predisposition, MONDO:0700268
    • Breast-ovarian cancer, familial, 1, MIM#604370