Genomics England
GMS Panels
Panels
Genes and Entities

BRIP1

BRCA1 interacting protein C-terminal helicase 1
OMIM: 605882
PanelMode of inheritanceDetails
12 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
predisposition to ovarian cancer
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054
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 J, OMIM:609054
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054
Green
in Haematological malignancies cancer susceptibility
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054
Green
in Inherited ovarian cancer (without breast cancer)
R-numbers: R207
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
familial ovarian cancer, MONDO:0016248
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054, Radial ray abnormality
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054
Green
in Ovarian cancer pertinent cancer susceptibility
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
familial ovarian cancer, MONDO:0016248
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J, OMIM:609054