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Cytopenias and congenital anaemias

Gene: RAD51C

Amber List (moderate evidence)

RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 22 panels

3 reviews

Louise Daugherty (Genomics England Curator)

added watchlist tag for Fanconi anaemia
Created: 12 Apr 2018, 1:27 p.m.

Helen Brittain (Genomics England Curator)

I don't know

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 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Mar 2017, Gel status: 2

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for RAD51C were set to Fanconi anemia, complementation group O 613390

28 Feb 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RAD51C were set to 20400963; 22232082

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

RAD51C was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RAD51C was created by LouiseD