IFT140-related recessive ciliopathy
MONDO:0100509Mondo
Findings
No curated finding names IFT140-related recessive ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.
Definition from the Mondo Disease Ontology (MONDO:0100509), 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.
- IFT140HGNC:29077
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of