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Newborns main panel

Gene: RAD51C

Amber List (moderate evidence)
RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 20400963 - 1 family PMID: 37031326 - 1 case - a fetus
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RAD51C. Added phenotypes Fanconi anemia, complementation group O for gene: RAD51C Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RAD51C. Added phenotypes Fanconi anemia, complementation group O for gene: RAD51C Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RAD51C. Added phenotypes Fanconi anemia, complementation group O for gene: RAD51C Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: rad51c has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group O for gene: RAD51C

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: RAD51C was added gene: RAD51C was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O