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IBMDx study

Gene: XRCC2

Green List (high evidence)
XRCC2 (X-ray repair cross complementing 2)
EnsemblGeneIds (GRCh38): ENSG00000196584
EnsemblGeneIds (GRCh37): ENSG00000196584
OMIM: 600375, Gene2Phenotype
XRCC2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family reported, functional data.
Created: 15 Sep 2020, 6:22 a.m. | Last Modified: 15 Sep 2020, 6:22 a.m.
Panel Version: 0.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group U, MIM# 617247

Publications

Created: 15 Sep 2020, 6:22 a.m.
Last Modified: 15 Sep 2020, 6:22 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.157

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group U, MIM# 617247
OMIM
600375
Clinvar variants
Variants in XRCC2
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: XRCC2 was added gene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: XRCC2 was set to Unknown Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247