Genomics England
GMS Panels
Panels
Genes and Entities

BRCA1

BRCA1, DNA repair associated
OMIM: 113705
PanelMode of inheritanceDetails
12 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary Breast and Ovarian Cancer
Green
in Breast cancer pertinent cancer susceptibility
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370
Green
in Confirmed Fanconi anaemia or Bloom syndrome
R-numbers: R229, R258
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group S, OMIM:617883
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DISABILITY 616579
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group S, OMIM:617883
Green
in Inherited breast cancer and ovarian cancer
R-numbers: R208
Signed-off version 2.5
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370
Green
in Inherited ovarian cancer (without breast cancer)
R-numbers: R207
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370, Hereditary breast ovarian cancer syndrome, MONDO:0003582
Green
in Inherited pancreatic cancer
R-numbers: R367
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Pancreatic cancer, susceptibility to, 4}, OMIM:614320, Pancreatic cancer, susceptibility to, 4, MONDO:0013685
Green
in Inherited prostate cancer
R-numbers: R430
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Ovarian cancer pertinent cancer susceptibility
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Breast-ovarian cancer, familial, 1}, OMIM:604370
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group S, OMIM:617883