This Panel is marked as Internal
Early onset pancytopenia and red cell 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
- Expert list
- Phenotypes
-
- Fanconi anemia
- ?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
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Familial prostate cancer
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
History Filter Activity
30 Sep 2015, Gel status: 3
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BRIP1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list