Fanconi anemia complementation group U
Findings
No curated finding names Fanconi anemia complementation group U yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014987), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent radiusHPOHP:0003974
- 1 of 1 reported patient
- Absent scaphoidHPOHP:0011835
- 1 of 1 reported patient
- Absent thumbHPOHP:0009777
- 1 of 1 reported patient
- Aplasia of the 1st metacarpalHPOHP:0010035
- 1 of 1 reported patient
- Chromosome breakageHPOHP:0040012
- 1 of 1 reported patient
- Ectopic kidneyHPOHP:0000086
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- XRCC2HGNC:12829
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · LiferaOmics · Autosomal recessive · 2026
Where it sits
- A kind of
Other names
9 names
Resolves to: Fanconi anemia complementation group U
- Also called
- Fanconi anaemia caused by mutation in XRCC2Fanconi anaemia complementation group type UFanconi anemia caused by mutation in XRCC2Fanconi anemia complementation group type UFanconi Anemia, complementation group type UFanconi Anemia, complementation group UFANCUXRCC2 Fanconi anaemiaXRCC2 Fanconi anemia