Haematological malignancies for rare disease
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Previous 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"Created: 5 Apr 2022, 8:56 a.m. | Last Modified: 5 Apr 2022, 8:56 a.m.
Panel Version: 1.10
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Curated sources
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group J, OMIM:609054
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Familial prostate cancer
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from 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 to Fanconi anemia, complementation group J, OMIM:609054
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
Created
Ellen McDonagh (Genomics England Curator)BRIP1 was created by Ellen McDonagh