PanelApp (test)
  1. Genes and Genomic Entities
  2. BRCA2:Ensemblv90

BRCA2:Ensemblv90

BRCA2, DNA repair associated
OMIM: 600185, ClinGen, DECIPHER

36 panels

Panel Reviews Mode of inheritance Details
36 panels

Green BRCA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews 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 1.18

    		1 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 1.24

    		1 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 0.370

    		1 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 1.376

    		1 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 0.132

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green BRCA2 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 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 1.130

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Breast-ovarian cancer, familial, 2, MIM#612555
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Green BRCA2 in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

    		0 reviews Unknown
    Sources
    • Expert list
    • Expert Review Green
    Tags
    • umccr

    Green BRCA2 in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 0.40

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

    Red BRCA2 in CGC_86


    Version 0.3

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

    Red BRCA2 in NCGC


    Version 0.3

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

    Red BRCA2 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews 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 0.391

    		1 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

    		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

    		0 reviews 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

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BRCA2 in Growth failure


    Version 1.87

    		1 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 1.482

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

    Green BRCA2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 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


    Level 2: Screening
    Version 0.20

    		0 reviews 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 Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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

    Red BRCA2 in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Green BRCA2 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Green BRCA2 in Incidentalome


    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Breast-ovarian cancer, familial, 2, MIM#612555
    Tags
    • cancer

    Green BRCA2 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green BRCA2 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Green BRCA2 in Additional findings_Adult


    Level 2: Screening
    Version 2.0

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Breast-ovarian cancer, familial, 2, MIM#612555
    • Fanconi anaemia, complementation group D1, MIM# 605724

    Green BRCA2 in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 1.0

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

    Red BRCA2 in TCGA_PANCAN_2018


    Version 1.0

    		0 reviews 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 1.0

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

    Green BRCA2 in Medulloblastoma


    Level 2: Cancer Predisposition
    Version 2.0

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

    Green BRCA2 in Growth failure


    Version 2.0

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

    Green BRCA2 in Fetal anomalies


    Version 2.0

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

    Green BRCA2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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

    Green BRCA2 in Transplant Co-Morbidity


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Melbourne Genomics Health Alliance
    • Expert Review Green
    Phenotypes
    • Breast-ovarian cancer, familial, 2, MIM#612555