Radial dysplasia
Gene: RAD51C
Second family reported, excellent biological candidate.Created: 23 Jul 2020, 7:49 a.m. | Last Modified: 23 Jul 2020, 7:49 a.m.
Panel Version: 1.10
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for RAD51C were set to Fanconi anemia, complementation group O 613390
Publications for RAD51C were set to 20400963; 22232082
This gene has been classified as Amber List (Moderate Evidence).
RAD51C was added to Radial dysplasiapanel. Sources: Expert list
RAD51C was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
RAD51C was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
RAD51C was added to Radial dysplasiapanel. Source: UKGTN
RAD51C was created by rfoulger
RAD51C was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing