BRCA2

BRCA2 DNA repair associated
OMIM: 600185, ClinGen, DECIPHER

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green BRCA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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 2.0

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 2.0

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 1.0

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 2.0

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 1.0

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 2.0

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 2.0

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 1.0

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

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
  • Expert Review Green
  • Literature
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 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 1.0

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 1.0

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

Green BRCA2 in Growth failure


Version 2.0

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 2.0

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 2.0

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 1.0

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 Sarcoma soft tissue


Level 2: Cancer Predisposition
Version 2.0

1 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 2.0

1 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 2.0

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 2.0

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 2.0

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 2.0

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

Amber BRCA2 in Infertility and Recurrent Pregnancy Loss


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure