Radial dysplasia
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, causes FA. Therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:36 a.m.
Comment when marking as ready: Sufficient evidence of causation for FACreated: 28 Feb 2017, 1:15 p.m.
Sufficient evidence that biallelic mutations cause FACreated: 20 Feb 2017, 11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group J 609054
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Fanconi anemia, complementation group J, OMIM:609054
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054 to Fanconi anemia, complementation group J, OMIM:609054
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J, 609054
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for BRIP1 were set to Fanconi anemia, complementation group J 609054
Set publications
Helen Brittain (Genomics England Curator)Publications for BRIP1 were set to 14630800; 16116424; 16153896; 16116423
Upload gene information
Rebecca Foulger (Genomics England curator)BRIP1 was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)BRIP1 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)BRIP1 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)BRIP1 was added to Radial dysplasiapanel. Source: UKGTN
Created
Rebecca Foulger (Genomics England curator)BRIP1 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)BRIP1 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing