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Haematological malignancies for rare disease

Gene: RAD51

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

4 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: 1.6

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: 1.6

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 23 Apr 2021, 9:07 a.m.
Last Modified: 23 Apr 2021, 9:07 a.m.
Panel version: 1.1

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: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.12

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Curated sources
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group R, OMIM:617244
OMIM
179617
Clinvar variants
Variants in RAD51
Penetrance
None
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

22 Aug 2018, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RAD51 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Amber

10 Apr 2018, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

RAD51 was created by Ellen McDonagh