BRCA2

BRCA2, DNA repair associated
OMIM: 600185
PanelMode of inheritanceDetails
16 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Breast and Ovarian Cancer
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555, {Breast cancer, male, susceptibility to}, OMIM:114480
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724, Wilms tumor, OMIM:194070, {Glioblastoma 3}, OMIM:613029, {Medulloblastoma}, OMIM:155255
R-numbers: R229, R258
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM: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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
R-numbers: R147
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724
R-numbers: R208
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555
R-numbers: R207
Signed-off version 4.0
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 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pancreatic cancer 2}, OMIM:613347, Pancreatic cancer, susceptibility to, 2, MONDO:0013235
R-numbers: R430
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, OMIM:605724