Genomics England

BRCA2

BRCA2, DNA repair associated

Panel	Mode of inheritance	Details
Filter panels17 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 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555, {Breast cancer, male, susceptibility to}, OMIM:114480
Green in Childhood solid tumours Signed-off version 5.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724, Wilms tumor, OMIM:194070, {Glioblastoma 3}, OMIM:613029, {Medulloblastoma}, OMIM:155255
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
Green in Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1
Green in Haematological malignancies cancer susceptibility Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724
Green in Inherited breast cancer and ovarian cancer R-numbers: R208 Signed-off version 3.2	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 5.2	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 3.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes {Pancreatic cancer 2}, OMIM:613347, Pancreatic cancer, susceptibility to, 2, MONDO:0013235
Green in Inherited prostate cancer R-numbers: R430 Signed-off version 1.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724
Green in NICE approved PARP inhibitor treatment R-numbers: R444 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555, {Breast cancer, male, susceptibility to}, OMIM:114480, {Prostate cancer}, OMIM:176807
Green in Ovarian cancer pertinent cancer susceptibility Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes {Breast-ovarian cancer, familial, 2}, OMIM:612555
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group D1, OMIM:605724