Childhood solid tumours
Gene: RAD51C
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
Added 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.
Created: 31 Jul 2017, 8:03 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, 8:02 a.m.
Source NHS GMS was added to RAD51C. Added phenotypes Fanconi Anemia for gene: RAD51C Publications for gene RAD51C were changed from to 19686080
Source Expert List was added to RAD51C.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen