Tumour predisposition - childhood onset

Gene: RAD51C

Amber List (moderate evidence)

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

2 reviews

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi Anemia

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, 8:03 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, 8:02 a.m.

History Filter Activity

2 Aug 2019, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RAD51C. Added phenotypes Fanconi Anemia for gene: RAD51C Publications for gene RAD51C were changed from to 19686080

30 Jan 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source Expert List was added to RAD51C.

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).

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

22 Jul 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN

22 Jul 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen