Cytopenias and congenital anaemias
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
3 reviews
Louise Daugherty (Genomics England Curator)
added watchlist tag for Fanconi anaemiaCreated: 12 Apr 2018, 1:27 p.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In view of mutations in a single case, await further evidence in humans. D/W Richard Scott - in agreement. Amber.Created: 2 Mar 2017, 9:25 p.m.
Biallelic mutations reported in one case with Fanconi anaemia to date. RAD51C is in the BRCA/FA pathway and therefore it is likely to be relevant to the phenotype but based upon the current evidence I have judged this to be amber - further evidence required.Created: 22 Feb 2017, 5:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group O 613390
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group O 613390
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for RAD51C were set to Fanconi anemia, complementation group O 613390
Set publications
Louise Daugherty (Genomics England Curator)Publications for RAD51C were set to 20400963; 22232082
Added New Source
Louise Daugherty (Genomics England Curator)RAD51C was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list
Created
Louise Daugherty (Genomics England Curator)RAD51C was created by LouiseD