Cytopenias and congenital anaemias
Gene: RAD51

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

1 review

Øystein Holla (Telemark Hospital Trust)

Green List (high evidence)

Three cases published, all with de novo variants and atypical Fanconi phenotype. Dominant negative effect. RAD51 haploinsufficiency cause mirror movements.
Sources: Literature
Created: 15 Feb 2023, 1:45 p.m.

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

Phenotypes
Fanconi anemia, atypical

Publications

Created: 15 Feb 2023, 1:45 p.m.

Panel version: 1.111

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Phenotypes

Fanconi anemia, atypical

OMIM

179617

Clinvar variants

Variants in RAD51

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

15 Feb 2023, Gel status: 0

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

Øystein Holla (Telemark Hospital Trust)

gene: RAD51 was added gene: RAD51 was added to Cytopenias and congenital anaemias. Sources: Literature Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 26681308; 30907510; 26253028 Phenotypes for gene: RAD51 were set to Fanconi anemia, atypical Penetrance for gene: RAD51 were set to unknown Review for gene: RAD51 was set to GREEN

Cytopenias and congenital anaemias Gene: RAD51