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  3. RAD51C
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IBMDx study

Gene: RAD51C

Green List (high evidence)
RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported, excellent biological candidate for FA.
Created: 28 Jul 2020, 10:51 p.m. | Last Modified: 28 Jul 2020, 10:51 p.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group O, MIM# 613390

Publications

Created: 28 Jul 2020, 10:51 p.m.
Last Modified: 28 Jul 2020, 10:51 p.m.
Panel version: Imported from Bone Marrow Failure panel version 0.75

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group O, MIM# 613390
OMIM
602774
Clinvar variants
Variants in RAD51C
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAD51C was added gene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RAD51C was set to Unknown Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390