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Limb disorders

Gene: RAD51C

Amber List (moderate evidence)

RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: 2 cases reported
Created: 7 Nov 2018, 3:48 p.m.

Sarah Leigh (Genomics England Curator)

I don't know

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

Helen Brittain (Genomics England Curator)

I don't know

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 date
Created: 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Biallelic mutations reported i

7 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rad51c has been classified as Amber List (Moderate Evidence).

7 Nov 2018, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RAD51C was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RAD51C was created by Ellen McDonagh