This Panel is marked as Internal
DNA Repair Genes pertinent cancer susceptibility
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
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Fanconi anemia
- Tolerance and repair of DNA crosslinks and other adducts in DNA: DNA helicase, BRCA1-interacting
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Limb disorders
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Childhood solid tumours
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRIP1 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database