Non-Fanconi anaemia

Gene: RAD51C

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Added 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.

Created: 31 Jul 2017, 7:33 a.m.

Comment on list classification: Changed rating from Green to Amber based on re-evaluation of evidence. Only 1 reported (biallelic) case supporting the FA phenotype. Agreed with Arianna Tucci and Helen Brittain that RAD51C should therefore be Amber on the basis of this single case report.

Created: 31 Jul 2017, 7:32 a.m.

There is only 1 case of a biallelic variation and a Fanconi anaemia-like presentation (PMID:20400963) as confirmed by Arianna Tucci, Helen Brittain & Richard Scott at Genomics England, and by Helen Lindsay (Leeds Genetic Laboratory). Correspondance from Helen Lindsay to Helen Brittain states "We have included this gene in our Fanconi anaemia panel. It’s listed on OMIM phenotypic series for FA and in GeneReviews, but as you state there is only one case reported in the literature. We have not identified any pathogenic mutations in FA patients to date. The only pathogenic variant we have reported was a heterozygous variant in an ovarian cancer case".

Created: 31 Jul 2017, 7:30 a.m.

Probable DD-G2P rating for Fanconi anemia. Moderate rating in ClinGen for Fanconi anemia.

Created: 25 Jul 2017, 3:28 p.m.

In affected members of a Pakistani family with Fanconi anemia (FANCO, MIM:613390), Vaz et al. (2010, PMID:20400963) identified a homozygous mutation in the RAD51C gene (R258H); this appears to be the only reported family.

Created: 25 Jul 2017, 3:27 p.m.

Comment on publications: Functional evidence reported by PMID:22167183.

Created: 25 Jul 2017, 3:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group O