BRCA1:Ensemblv90

BRCA1, DNA repair associated
OMIM: 113705, ClinGen, DECIPHER

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green BRCA1 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
    • Expert list
    Phenotypes
    • Fanconi anemia, complementation group S, MIM# 617883

    Green BRCA1 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.24

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

    Green BRCA1 in Incidentalome


    Version 0.370

    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, 1, MIM# 604370

    Green BRCA1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.132

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

    Green BRCA1 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, 1, MIM# 604370
    • Fanconi anaemia, complementation group S, MIM# 617883

    Green BRCA1 in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

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

    Red BRCA1 in CGC_86


    Version 0.3

    0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome

    Red BRCA1 in NCGC


    Version 0.3

    0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome

    Red BRCA1 in TCGA_PANCAN_2018


    Version 0.3

    0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome

    Red BRCA1 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
    Phenotypes
    • Breast-ovarian cancer, familial, 1

    Green BRCA1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

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

    Green BRCA1 in Growth failure


    Version 1.87

    1 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 1.482

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

    Green BRCA1 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
    Phenotypes
    • Fanconi anemia, complementation group S, MIM# 617883
    Tags
    • treatable
    • haematological

    Green BRCA1 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, 1, MIM# 604370

    Green BRCA1 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

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

    Green BRCA1 in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

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

    Green BRCA1 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, 1, MIM# 604370

    Green BRCA1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

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

    Green BRCA1 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, 1, MIM# 604370
    • Fanconi anaemia, complementation group S, MIM# 617883

    Red BRCA1 in TCGA_PANCAN_2018


    Version 1.0

    0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Hereditary breast and ovarian cancer syndrome

    Green BRCA1 in Growth failure


    Version 2.0

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

    Green BRCA1 in Fetal anomalies


    Version 2.0

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

    Green BRCA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

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

    Green BRCA1 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, 1, MIM# 604370