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Chromosome Breakage Disorders
Gene: RAD51

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with de novo missense variants in this gene.
Created: 23 Apr 2021, 9:08 a.m. | Last Modified: 23 Apr 2021, 9:08 a.m.

Panel Version: 0.141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi anaemia, complementation group R, MIM# 617244

Publications

Created: 23 Apr 2021, 9:08 a.m.
Last Modified: 23 Apr 2021, 9:08 a.m.
Panel version: 0.145

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Fanconi anaemia, complementation group R, MIM# 617244

OMIM

Clinvar variants

Variants in RAD51

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAD51 were changed from Fanconi anemia, complementation group R, MIM# 617244 to Fanconi anaemia, complementation group R, MIM# 617244

23 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad51 has been classified as Green List (High Evidence).

23 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAD51 were changed from to Fanconi anemia, complementation group R, MIM# 617244

23 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAD51 were set to

23 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAD51 was added gene: RAD51 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAD51 was set to Unknown