BRCA1

BRCA1, DNA repair associated
OMIM: 113705, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green BRCA1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review 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 1.19

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

Green BRCA1 in Incidentalome


Version 0.301

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • Breast-ovarian cancer, familial, 1, MIM# 604370

Green BRCA1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Green BRCA1 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, 1, MIM# 604370

Green BRCA1 in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 0.43

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

Red BRCA1 in CGC_86


Version 0.2

review Other
Sources
  • CGC_86
Phenotypes
  • Hereditary breast and ovarian cancer syndrome

Red BRCA1 in NCGC


Version 0.2

review Other
Sources
  • NCGC
Phenotypes
  • Hereditary breast and ovarian cancer syndrome

Red BRCA1 in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Hereditary breast and ovarian cancer syndrome

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

Green BRCA1 in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green BRCA1 in Growth failure


Version 1.76

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 1.255

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

Green BRCA1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

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 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, 1, MIM# 604370