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Newborns main panel

Gene: XRCC2

Amber List (moderate evidence)
XRCC2 (X-ray repair cross complementing 2)
EnsemblGeneIds (GRCh38): ENSG00000196584
EnsemblGeneIds (GRCh37): ENSG00000196584
OMIM: 600375, Gene2Phenotype
XRCC2 is in 7 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 22232082 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group U
OMIM
600375
Clinvar variants
Variants in XRCC2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to XRCC2. Added phenotypes Fanconi anemia, complementation group U for gene: XRCC2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to XRCC2. Added phenotypes Fanconi anemia, complementation group U for gene: XRCC2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to XRCC2. Added phenotypes Fanconi anemia, complementation group U for gene: XRCC2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: XRCC2 were changed from ?Fanconi anemia, complementation group U; Fanconi anemia, complementation group U to Fanconi anemia, complementation group U

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: xrcc2 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Fanconi anemia, complementation group U for gene: XRCC2

9 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: XRCC2 was added gene: XRCC2 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XRCC2 were set to ?Fanconi anemia, complementation group U