Neurofibromatosis Type 1

Gene: RAD51C

Amber List (moderate evidence)

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

5 reviews

Helen Lindsay (Leeds Genetics Laboratory)

Green List (high evidence)

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

Mark Greenslade (Bristol Genetics Laboratory)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

Added 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.
Created: 31 Jul 2017, 8 a.m.
Comment on list classification: Changed rating from Green to Amber based on re-evaluation of supporting evidence for Fanconi anaemia. Only 1 reported (biallelic) case supporting the FA phenotype (PMID:20400963). Helen Lindsay (Leeds Genetic Laboratory) also confirmed that there is only 1 reported case in literature and they have not identified any pathogenic mutations in FA patients to date. Agreed with Arianna Tucci and Helen Brittain that RAD51C should therefore be Amber on the basis of this single case report.
Created: 31 Jul 2017, 8 a.m.

Alice Gardham (Genomics England)

I don't know

Mutations identified in three affected siblings. No other literature. Listed on OMIM and G2P as causing Fanconi anaemia
Created: 2 Nov 2016, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia 613390

Publications

Helen Savage (Congenica Ltd)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia complementation group O

History Filter Activity

31 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for RAD51C were set to 20400963

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

RAD51C was added to Neurofibromatosis Type 1panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

RAD51C was created by agardham