Non-Fanconi anaemia
Gene: BRCA2EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels
4 reviews
Helen Lindsay (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Mark Greenslade (Bristol Genetics Laboratory)
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Biallelic mode of ineritance for Fanconi anemia, complementation group D1 (MIM:605724) confirmed by OMIM and G2P.Created: 4 May 2017, 9:06 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi anemia, complementation group D1, 605724
- OMIM
- 600185
- Clinvar variants
- Variants in BRCA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- NICE approved PARP inhibitor treatment
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- DDG2P
- Fetal anomalies
- Inherited prostate cancer
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Inherited breast cancer and ovarian cancer
- Familial melanoma
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenias and congenital anaemias
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Intellectual disability
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Limb disorders
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for BRCA2 were set to Fanconi anemia, complementation group D1, 605724
Set publications
Rebecca Foulger (Genomics England curator)Publications for BRCA2 were set to 12065746; 16825431
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene BRCA2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)BRCA2 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN