Limb disordersGene: BRCA2
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
Fanconi anemia, complementation group D1 605724
Helen Brittain: Established cause in biallelic
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
BRCA2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
BRCA2 was created by Ellen McDonagh