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Fetal anomalies

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 8 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

Green List (high evidence)

[consistency check - other Fanconi anemia genes are on panel]. Case report (PMID: 22232082) of a 2.5 year old Saudi child born to consanguineous parents with an atypical form of Fanconi anemia. At birth he showed microcephaly, left facial nerve palsy, aand bilaterally absent thumbs (could identify prenatally). Also had ectopic left kidney and patent ductus arteriosus, and radiographs showed complete absence bilaterally of the first metacarpal and scaphoid bones, absent left radius, and hypoplastic right radius. Growth was continuously poor. A premature biallelic stop gain mutation in XRCC2 (NM_005431.1:c.643C>T; p.(Arg215*)). They performed functional studies on cells derived from the patient. They found that wild type XRCC2 corrects each of three phenotype characteristics of FA cells (PMID:22232082). PMID: 42071175, 2 related adult individuals (19yo female and 20yo male) from a consanguineous Egyptian family, homozygous for XRCC2 p.(Arg215Ter). Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected. Diagnosed with 'Fanconi anemia-like disorder' without major hematological manifestations. PMID: 30237576, Report of a 3 years old Saudi girl, homozygous for XRCC2 c.643C>T:p.(Arg215*), diagnosed with XRCC2-related Fanconi anemia. At birth, she was noted to have borderline microcephaly (OFC was 33 cm); also noted to have bilateral hypoplastic thumb, multiple caf late spots, strabismus, and dysmorphic facial features. She developed failure to thrive with progressive microcephaly (at age of 3 years, head circumference was 45 cm. Investigation showed pancytopenia. Chromosomal breakage was 100%. Brain MRI at 3 months of age was unremarkable. Her parents are second cousins. Sister was similarly affected, died of respiratory failure and pancytopenia.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group U, OMIM:617247

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Fanconi anemia, complementation group U, OMIM:617247
OMIM
600375
Clinvar variants
Variants in XRCC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: XRCC2 was added gene: XRCC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC2 were set to 27208205; 42071175; 22232082; 30237576 Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, OMIM:617247