Childhood solid tumours
Gene: BRIP1EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anaemia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group J, OMIM:609054
- OMIM
- 605882
- Clinvar variants
- Variants in BRIP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- 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
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; Fanconi anemia, complementation group J, 609054; Fanconi Anaemia; ?Breast cancer, early-onset, 114480; Fanconi Anemia to Fanconi anemia, complementation group J, OMIM:609054
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BRIP1. Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1 Publications for gene BRIP1 were changed from to 21964575
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to BRIP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BRIP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)BRIP1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen