Haematological malignancies for rare disease
Gene: RAD51
Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with de novo heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene with a dominant negative effect. The phenotype was consistent with Fanconi anemia involving chromosomal instability but was atypical in that no patients displayed any features of bone marrow failure or malignancies.
Therefore, maintaining Amber rating on this panel as it is unclear whether this atypical form of FA is associated with cancer.Created: 13 Oct 2021, 4:14 p.m. | Last Modified: 13 Oct 2021, 4:14 p.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fanconi anemia, complementation group R, OMIM:617244
Publications
Third individual reported with de novo variant in this gene and a FA phenotype.Created: 23 Apr 2021, 9:07 a.m. | Last Modified: 23 Apr 2021, 9:07 a.m.
Panel Version: 1.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi anemia, complementation group R 617244
Publications
Comment on list classification: Demoted to amber after discussion with Clare Turnbull - there does not seem to be enough evidence for this geen currently and the mode of inheritance is unclear.Created: 30 Jan 2018, 11:54 a.m.
Comment on mode of inheritance: Mode of inheritance is dominant in OMIM for ?Fanconi anemia, complementation group R 617244, and {Breast cancer, susceptibility to} 114480.Created: 24 Jan 2018, 1:33 p.m.
Publications for gene: RAD51 were set to 28297620
Phenotypes for gene: RAD51 were changed from Class: BM failure FA, (typ AR); Fanconi anemia; MDS; AML; Squamous cell carcinoma: oral, GI, vulvar to Fanconi anemia, complementation group R, OMIM:617244
22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
RAD51 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Amber
RAD51 was created by Ellen McDonagh