Refuted genes
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
RAD51C was green on the non-Fanconi anaemia panel. Based on re-evaluation of evidence, changed rating from Green to Amber on the non-FA panel, and any other live panels where biallelic MOI was recorded alongside the FA phenotype: Only 1 reported (biallelic) case supporting the FA phenotype.Created: 1 Aug 2017, 1:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group O, 613390
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Phenotypes
-
- Fanconi anemia, complementation group O, 613390
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- DDG2P
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Refuted genespanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)RAD51C was created by rfoulger