Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: BRCA2

Green List (high evidence)

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 29 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:34 a.m.
Comment when marking as ready: Evidence of causation of FA in biallelic cases
Created: 28 Feb 2017, 1:14 p.m.
Comment on list classification: Sufficient evidence of causation for FA in biallelic cases
Created: 28 Feb 2017, 1:13 p.m.
Established cause in biallelic cases. Although there is a predisposition to presentation with early onset leukaemia / solid tumours (e.g. medulloblastoma) presentation with anaemia / cytopaenia is also reported. Considered appropriate for inclusion.
Created: 20 Feb 2017, 9:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group D1 605724

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Established cause in biallelic

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to BRCA2. Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2 Publications for gene BRCA2 were changed from to 11239453; 12065746; 14670928; 28185119

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BRCA2 was created by Ellen McDonagh