Radial dysplasia
Gene: 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 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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for BRCA2 were set to Fanconi anemia, complementation group D1, 605724
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
BRCA2 was added to Radial dysplasiapanel. Sources: Expert list
BRCA2 was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
BRCA2 was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
BRCA2 was added to Radial dysplasiapanel. Source: UKGTN
BRCA2 was created by rfoulger
BRCA2 was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing