Fanconi anemia complementation group E
MONDO:0010953Mondo
Findings
No curated finding names Fanconi anemia complementation group E 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 FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
Definition from the Mondo Disease Ontology (MONDO:0010953), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- FANCEHGNC:3586
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- 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
9 names
Resolves to: Fanconi anemia complementation group E
- Also called
- FACEFANCEFANCE Fanconi anaemiaFANCE Fanconi anemiaFanconi anaemia caused by mutation in FANCEFanconi anaemia complementation group type EFanconi anemia caused by mutation in FANCEFanconi anemia complementation group type EFanconi Anemia, complementation group type E