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  2. Radial Ray Abnormalities
  3. RAD51
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Radial Ray Abnormalities

Gene: RAD51

Amber List (moderate evidence)
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)

I don't know

Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.
Sources: Expert Review
Created: 23 Apr 2021, 9:30 a.m. | Last Modified: 23 Apr 2021, 9:30 a.m.
Panel Version: 0.85

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fanconi anaemia, complementation group R, MIM# 617244

Publications

Created: 23 Apr 2021, 9:30 a.m.
Last Modified: 23 Apr 2021, 9:30 a.m.
Panel version: 0.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Fanconi anaemia, complementation group R, MIM# 617244
OMIM
179617
Clinvar variants
Variants in RAD51
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad51 has been classified as Amber List (Moderate Evidence).

23 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad51 has been classified as Amber List (Moderate Evidence).

23 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAD51 was added gene: RAD51 was added to Radial Ray Abnormalities. Sources: Expert Review Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD51 were set to 26253028; 26681308; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244 Review for gene: RAD51 was set to GREEN