BRCA1

BRCA1, DNA repair associated
OMIM: 113705
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast 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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DISABILITY 616579
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, MDS, AML, Squamous cell carcinoma: oral, GI, vulvar
R-numbers: R208
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370
R-numbers: R207
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370, Hereditary breast ovarian cancer syndrome, MONDO:0003582
R-numbers: R367
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pancreatic cancer, susceptibility to, 4}, OMIM:614320, Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ovarian cancer
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCS, FANCONI ANEMIA, COMPLEMENTATION GROUP S
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer