ClinGen Gene Validity Curations
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- ClinGen
- Phenotypes
-
- Fanconi anemia
- OrphaNet ORPHA84
- OMIM 613390
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Neurofibromatosis Type 1
- Limb disorders
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- Inherited breast cancer and ovarian cancer
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- Childhood solid tumours
- Confirmed Fanconi anaemia or Bloom syndrome
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to ClinGen Gene Validity Curationspanel. Source: Expert Review Amber
Created
Ellen McDonagh (Genomics England Curator)RAD51C was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen