Genomics England
GMS Panels
Panels
Genes and Entities

BRCA2

BRCA2, DNA repair associated
OMIM: 600185
PanelMode of inheritanceDetails
15 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Breast and Ovarian Cancer
Green
in Breast cancer pertinent cancer susceptibility
Signed-off version 1.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer
Green
in Confirmed Fanconi anaemia or Bloom syndrome
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
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Green
in Growth failure in early childhood
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
Green
in Haematological malignancies cancer susceptibility
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
Green
in Inherited breast cancer and ovarian cancer
R-numbers: R208
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Breast-ovarian cancer, familial, 2}, OMIM:612555
Green
in Inherited ovarian cancer (without breast cancer)
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
Green
in Inherited pancreatic cancer
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
Green
in Limb disorders
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
Green
in Ovarian cancer pertinent cancer susceptibility
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ovarian cancer
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCD1, FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group D1, 605724 (Microcephaly)
Green
in Tumour predisposition - childhood onset
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