This Panel is marked as Retired
Multiple Tumours
Gene: BRIP1
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Fanconi Anemia (J) (biallelic mutations)
- Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) (biallelic mutations)
- Squamous cell carcinoma (head and neck, esophagus, genital tract) (biallelic mutations)
- Breast cancer (monoallelic mutations)
- Ovarian cancer (monoallelic mutations)
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Severe microcephaly
- Ovarian cancer pertinent cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Childhood solid tumours
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Monogenic short stature
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Limb disorders
- DDG2P
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
30 May 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BRIP1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRIP1 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)