PanelApp
  1. Genes and Genomic Entities
  2. BRCA2

BRCA2

BRCA2, DNA repair associated
OMIM: 600185, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green BRCA2 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Red BRCA2 in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.16

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group D1, MIM# 605724

    Green BRCA2 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group D1, MIM# 605724

    Green BRCA2 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, 2, MIM#612555
    Tags
    • cancer

    Green BRCA2 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group D1 (MIM#605724)

    Green BRCA2 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

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

    Green BRCA2 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.15

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Green BRCA2 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, 2, MIM#612555

    Green BRCA2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fanconi anemia, complementation group D1 MIM#605724
    • premature ovarian failure

    Green BRCA2 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Medulloblastoma, MONDO:0007959
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555

    Red BRCA2 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
    • BabySeq Category A gene
    Phenotypes
    • Breast-ovarian cancer, familial, 2
    • Fanconi anemia, complementation group D1

    Green BRCA2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BRCA2 in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Green BRCA2 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Literature
    Phenotypes
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Green BRCA2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Fanconi anaemia, complementation group D1, MIM# 605724
    Tags
    • treatable
    • haematological

    Green BRCA2 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, 2, MIM#612555

    Green BRCA2 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
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555

    Green BRCA2 in Wilms Tumour


    Level 2: Cancer Predisposition
    Version 1.0

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Wilms tumor, MONDO:0006058
    • Fanconi anemia complementation group D1,MONDO:0011584
    • Fanconi anemia, complementation group D1, MIM#605724

    Green BRCA2 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
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555

    Green BRCA2 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
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555

    Green BRCA2 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
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555

    Green BRCA2 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
    • BRCA2-related cancer predisposition, MONDO:0700269
    • Breast-ovarian cancer, familial, 2, MIM#612555