PanelApp (test)
  1. Genes and Genomic Entities
  2. BRCA2

BRCA2

BRCA2, DNA repair associated
OMIM: 600185, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green BRCA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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 1.14

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 1.19

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 0.301

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 1.269

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 1.10

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 Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

    		review Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Green BRCA2 in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 0.39

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Red BRCA2 in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome
    • Fanconi anemia, complementation group D1

    Red BRCA2 in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome
    • Fanconi anemia, complementation group D1

    Red BRCA2 in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Fanconi anemia, complementation group D1
    • Hereditary breast and ovarian cancer syndrome

    Green BRCA2 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

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

    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 1.255

    		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 1.114

    		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