Radial dysplasia
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
3 reviews
Zornitza Stark (Australian Genomics)
Second family reported, excellent biological candidate.Created: 23 Jul 2020, 7:49 a.m. | Last Modified: 23 Jul 2020, 7:49 a.m.
Panel Version: 1.10
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
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- 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
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
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
Helen Brittain (Genomics England Curator)Publications for RAD51C were set to 20400963; 22232082
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RAD51C was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Radial dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Radial dysplasiapanel. Source: UKGTN
Created
Rebecca Foulger (Genomics England curator)RAD51C was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing