Undiagnosed neurocutaneous disorders
Gene: RAD51CAdded 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.Created: 31 Jul 2017, 8:07 a.m.
Comment on list classification: Changed rating from Green to Amber based on re-evaluation of supporting evidence for Fanconi anaemia. Only 1 reported (biallelic) case supporting the FA phenotype (PMID:20400963). Helen Lindsay (Leeds Genetic Laboratory) also confirmed that there is only 1 reported case in literature and they have not identified any pathogenic mutations in FA patients to date. 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, 8:07 a.m.
This gene has been classified as Amber List (Moderate Evidence).
RAD51C was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
RAD51C was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
RAD51C was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
RAD51C was created by ellenmcdonagh