BRCA2

BRCA2, DNA repair associated
OMIM: 600185
PanelMode of inheritanceDetails
15 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
605724 Fanconi anemia, complementation group D1, Fanconi anemia, complementation group D1, 605724
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
R-numbers: R147
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, 605724, 605724 Fanconi anemia, complementation group D1
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), Fanconi anemia, breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1), hereditary breast, ovarian cancer, MDS, AML, Leukaemia, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer ,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, 2}, OMIM:612555
R-numbers: R207
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555, 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 2}, OMIM:613347, Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, 605724, Radial Ray abnormality
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
FANCD1, FANCONI ANEMIA, COMPLEMENTATION GROUP D1
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, 605724 (Microcephaly)
R-numbers: R359
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilms tumor, 194070, Fanconi Anaemia, {Breast cancer, male, susceptibility to}, 114480, Prostate cancer, 176807, {Medulloblastoma}, 155255, {Glioblastoma 3}, 613029, Fanconi Anemia, Hereditary Breast and Ovarian Cancer, Fanconi anemia, complementation group D1, 605724, {Breast-ovarian cancer, familial, 2}, 612555, Pancreatic cancer, 613347