Fanconi anemia complementation group G
MONDO:0013565Mondo
Findings
No curated finding names Fanconi anemia complementation group G yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fanconi anemia caused by mutations of the FANCG gene.
Definition from the Mondo Disease Ontology (MONDO:0013565), read 2026-09-29. CC BY 4.0.
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.
- Growth delayHPOHP:0001510
- 19 of 23 reported patients
- MicrocephalyHPOHP:0000252
- 14 of 22 reported patients
- MicrophthalmiaHPOHP:0000568
- 8 of 22 reported patients
- Abnormal thumb morphologyHPOHP:0001172
- Abnormality of chromosome stabilityHPOHP:0003220
- AnemiaHPOHP:0001903
- Decreased total neutrophil countHPOHP:0001875
- LeukemiaHPOHP:0001909
- Multiple cafe-au-lait spotsHPOHP:0007565
- MyelodysplasiaHPOHP:0002863
- ThrombocytopeniaHPOHP:0001873
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.
- FANCGHGNC:3588
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Fanconi anemia complementation group G
- Also called
- FANCGFanconi anaemia complementation group type GFanconi anemia complementation group type GFanconi Anemia, complementation group type G