Childhood solid tumours cancer susceptibility
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Changed to biallelic to reflect Clare's comment.Created: 24 Jan 2018, 9:39 a.m.
Clare Turnbull (Queen Mary University London)
Report biallelic only.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
predisposition to ovarian cancer
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group J, OMIM:609054
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J 609054 to Fanconi anemia, complementation group J, OMIM:609054
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Report biallelic only.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J 609054
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BRIP1 were set to fanconi anaemia
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRIP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Childhood solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Childhood solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)BRIP1 was created by ellenmcdonagh