Cytopenias and congenital anaemias
Gene: BRCA2
Comment when marking as ready: Evidence of causation of FA in biallelic casesCreated: 28 Feb 2017, 1:14 p.m.
Comment on list classification: Sufficient evidence of causation for FA in biallelic casesCreated: 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
Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1 605724 to Fanconi anemia, complementation group D1, OMIM:605724
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Publications for BRCA2 were set to 11239453; 12065746; 14670928; 28185119; 24395671
This gene has been classified as Green List (High Evidence).
Phenotypes for BRCA2 were set to Fanconi anemia, complementation group D1 605724
Publications for BRCA2 were set to 11239453; 12065746; 14670928; 28185119
This gene has been classified as Green List (High Evidence).
BRCA2 was created by LouiseD
BRCA2 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list