Limb disorders
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
4 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: 2 cases reportedCreated: 7 Nov 2018, 3:48 p.m.
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in two unrelated cases, displaying some relevant feature as part of Fanconi anemia, complementation group O 613390.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group O 613390
Publications
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Amber and watchlist based upon single case with biallelic mutations and FA diagnosis.Created: 11 May 2017, 9:59 a.m.
Comment on list classification: Only a single case with biallelic mutations to dateCreated: 11 May 2017, 9:58 a.m.
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Radial Ray abnormality
- Fanconi anemia, complementation group O 613390
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- 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 1.0
Eleanor Williams (Genomics England Curator)Helen Brittain: Biallelic mutations reported i
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: rad51c has been classified as Amber List (Moderate Evidence).
Set mode of inheritance, Set Phenotypes, Set publications
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group O 613390 for gene: RAD51C Publications for gene RAD51C were changed from to 20400963; 29278735
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)RAD51C was created by Ellen McDonagh