Radial dysplasia

Gene: RAD51C

Amber List (moderate evidence)

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

2 reviews

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

23 May 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 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).

11 May 2017, Gel status: 2

Set Phenotypes

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for RAD51C were set to 20400963; 22232082

11 May 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).

6 Dec 2016, Gel status: 3

Upload gene information

Rebecca Foulger (Genomics England curator)

RAD51C was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

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

18 Oct 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

RAD51C was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen

18 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

RAD51C was added to Radial dysplasiapanel. Source: UKGTN

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RAD51C was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RAD51C was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing