BRIP1

BRCA1 interacting protein C-terminal helicase 1
OMIM: 605882
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
predisposition to ovarian cancer
R-numbers: R229, R258
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
609054 Fanconi anemia, complementation group J, Fanconi anemia, complementation group J, 609054
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP J
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, 609054, 609054 Fanconi anemia, complementation group J
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure FA, (typ AR), AML, leukaemia, breast, Fanconi anaemia J, breast cancer susceptiblity, MDS, Leukaemia, Bone marrow failure, Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma oral, GI, vulvar
R-numbers: R207
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Breast cancer, early-onset, 114480, Fanconi anemia, complementation group J, 609054, Breast and Ovarian Cancer, Breast Cancer
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Radial Ray abnormality, Fanconi anemia, complementation group J, 609054
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCJ, FANCONI ANEMIA, COMPLEMENTATION GROUP J
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, 609054
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, 609054, Fanconi anemia, complementation group J, 609054, Fanconi Anaemia, ?Breast cancer, early-onset, 114480, Fanconi Anemia