This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- ?Breast cancer, early-onset, 114480
- Fanconi anemia, complementation group J, 609054
- Fanconi Anemia
- Fanconi Anaemia
- 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
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BRIP1 was created by ellenmcdonagh