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
-
- Childhood solid tumours
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Severe microcephaly
- Ovarian cancer pertinent cancer susceptibility
- Fetal anomalies
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Intellectual disability
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
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