BRCA1

BRCA1, DNA repair associated
OMIM: 113705
PanelMode of inheritanceDetails
7 panels
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, 617883 Fanconi anemia, complementation group S
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DISABILITY 616579
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar
R-numbers: R207
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 1}, 604370, {Pancreatic cancer, susceptibility to, 4}, 614320, Hereditary Breast and Ovarian Cancer, Hereditary Breast and Ovarian Cancer Syndrome, Breast and Ovarian Cancer, High Risk Breast Cancer, Breast cancer
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCS, FANCONI ANEMIA, COMPLEMENTATION GROUP S
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer