Non-Fanconi anaemia
Gene: XRCC2

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

1 review

Kenneth Smith (Clinical scientist within SWGMC)

Green List (high evidence)

Variants in this gene are reported as part of current diagnostic practice.

J Med Genet. 2012 Mar;49(3):184-6 reports an individual with various clinical features consistent with FA who was born to consanguineous parents and is homozygous for a nonsense variant in XRCC2 gene (FANCU), following exome sequencing. Positive DEB fragility studies.
Created: 14 Aug 2017, 2:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi Anaemia

Publications

J Med Genet. 2012 Mar
49(3):184-6.

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Aug 2017, 2:18 p.m.

Panel version: 0.325

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Fanconi Anaemia

OMIM

600375

Clinvar variants

Variants in XRCC2

Penetrance

Complete

Publications

J Med Genet. 2012 Mar 49(3):184-6 PMID: 22232082
27760710
27208205
22464251
22232082

Panels with this gene