Fanconi anemia complementation group R
Findings
No curated finding names Fanconi anemia complementation group R 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 RAD51 gene.
Definition from the Mondo Disease Ontology (MONDO:0014986), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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 thumbHPOHP:0009777
- 1 of 1 reported patient
- Agenesis of permanent teethHPOHP:0006349
- 1 of 1 reported patient
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- Chiari type I malformationHPOHP:0007099
- 1 of 1 reported patient
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
Show the remaining 6
- Pelvic kidneyHPOHP:0000125
- 1 of 1 reported patient
- Radial ray deficiencyHPOHP:0006433
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Tethered cordHPOHP:0002144
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 0 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 0 of 1 reported patient
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.
- RAD51HGNC:9817
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
9 names
Resolves to: Fanconi anemia complementation group R
- Also called
- Fanconi anaemia caused by mutation in RAD51Fanconi anaemia complementation group type RFanconi anemia caused by mutation in RAD51Fanconi anemia complementation group type RFanconi Anemia, complementation group RFanconi Anemia, complementation group type RFANCRRAD51 Fanconi anaemiaRAD51 Fanconi anemia