Limb disorders
Gene: RAD51CComment on list classification: 2 cases reportedCreated: 7 Nov 2018, 3:48 p.m.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in two unrelated cases, displaying some relevant feature as part of Fanconi anemia, complementation group O 613390.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group O 613390
Publications
Comment when marking as ready: Amber and watchlist based upon single case with biallelic mutations and FA diagnosis.Created: 11 May 2017, 9:59 a.m.
Comment on list classification: Only a single case with biallelic mutations to dateCreated: 11 May 2017, 9:58 a.m.
Comment when marking as ready: In view of mutations in a single case, await further evidence in humans. D/W Richard Scott - in agreement. Amber.Created: 2 Mar 2017, 9:25 p.m.
Biallelic mutations reported in one case with Fanconi anaemia to date. RAD51C is in the BRCA/FA pathway and therefore it is likely to be relevant to the phenotype but based upon the current evidence I have judged this to be amber - further evidence required.Created: 22 Feb 2017, 5:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group O 613390
Publications
Helen Brittain: Biallelic mutations reported i
Gene: rad51c has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group O 613390 for gene: RAD51C Publications for gene RAD51C were changed from to 20400963; 29278735
RAD51C was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
RAD51C was created by Ellen McDonagh