Neurofibromatosis Type 1
Gene: RAD51C
Variants in this GENE are reported as part of current diagnostic practice
Added 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.Created: 31 Jul 2017, 8 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 a.m.
Mutations identified in three affected siblings. No other literature. Listed on OMIM and G2P as causing Fanconi anaemiaCreated: 2 Nov 2016, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia 613390
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia complementation group O
This gene has been classified as Amber List (Moderate Evidence).
Publications for RAD51C were set to 20400963
Panel finalised 14th November 2016
This gene has been classified as Green List (High Evidence).
RAD51C was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
RAD51C was created by agardham