Bone Marrow Failure
Gene: RAD51

RAD51 (RAD51 recombinase)
EnsemblGeneIds (GRCh38): ENSG00000051180
EnsemblGeneIds (GRCh37): ENSG00000051180
OMIM: 179617, Gene2Phenotype
RAD51 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

At least 3 unrelated individuals reported with Fanconi Anaemia and de novo missense variants, however, bone marrow failure was not present in any of the individuals reported.
Sources: Expert list
Created: 19 Dec 2024, 11:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi anemia complementation group R MONDO:0014986

Publications

Created: 19 Dec 2024, 11:54 p.m.

Panel version: 1.111

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list

Phenotypes

Fanconi anemia complementation group R MONDO:0014986

OMIM

179617

Clinvar variants

Variants in RAD51

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Dec 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rad51 has been classified as Red List (Low Evidence).

19 Dec 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes