Haematological malignancies cancer susceptibility
Gene: RAD51

RAD51 (RAD51 recombinase)
EnsemblGeneIds (GRCh38): ENSG00000051180
EnsemblGeneIds (GRCh37): ENSG00000051180
OMIM: 179617, Gene2Phenotype
RAD51 is in 11 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

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: 2.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fanconi anemia, complementation group R, OMIM:617244

Publications

Created: 13 Oct 2021, 4:14 p.m.
Last Modified: 13 Oct 2021, 4:14 p.m.
Panel version: 2.20

Ellen McDonagh (Genomics England Curator)

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.

Created: 24 Jan 2018, 1:33 p.m.

Panel version: 0.12

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Created: 26 Jul 2017, 11:15 a.m.

Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Curated sources

Phenotypes

Fanconi anemia, complementation group R, OMIM:617244

OMIM

179617

Clinvar variants

Variants in RAD51

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RAD51 were set to 28297620

13 Oct 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

7 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

30 Jan 2018, Gel status: 2