IRF6-related condition
MONDO:1040010Mondo
Findings
No curated finding names IRF6-related condition yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those conditions in which the cause of the disease is a mutation in the IRF6 gene.
Definition from the Mondo Disease Ontology (MONDO:1040010), read 2026-09-29. CC BY 4.0.
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.
- IRF6HGNC:6121
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (2)