Childhood solid tumours cancer susceptibility
Gene: RAD51C
RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
2 reviews
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, 7:41 a.m.
Comment on list classification: Changed rating from Green to Amber based on re-evaluation of supporting evidence. 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, 7:40 a.m.
Clare Turnbull (Queen Mary University London)
Tumour suppressor.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi Anemia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Fanconi Anemia
- Tags
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Inherited breast cancer and ovarian cancer
- Limb disorders
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- DDG2P
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
History Filter Activity
7 Sep 2018, Gel status: 2
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
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).
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RAD51C was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Childhood solid tumourspanel. Sources: Expert list