Chromosome Breakage Disorders
Gene: XRCC2EnsemblGeneIds (GRCh38): ENSG00000196584
EnsemblGeneIds (GRCh37): ENSG00000196584
OMIM: 600375, Gene2Phenotype
XRCC2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single family reported, functional data.
Sources: Expert listCreated: 15 Sep 2020, 6:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group U, MIM# 617247
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Fanconi anemia, complementation group U, MIM# 617247
- OMIM
- 600375
- Clinvar variants
- Variants in XRCC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: XRCC2 was added gene: XRCC2 was added to Chromosome Breakage Disorders. Sources: Expert list Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC2 were set to 27208205; 22232082; 11118202 Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247 Review for gene: XRCC2 was set to AMBER