Childhood solid tumours
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
2 reviews
Lara Hawkes (Genomics England)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Amber
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
- Fanconi anemia, complementation group O, 613390
- Fanconi Anaemia
- Fanconi Anemia
- Tags
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
History Filter Activity
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
Added New Source
Ivone Leong (Genomics England Curator)Source Expert List was added to RAD51C.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene RAD51C was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)RAD51C was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen