CEP290-related ciliopathy
MONDO:0100451Mondo
Findings
No curated finding names CEP290-related ciliopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A ciliopathy caused by biallelic variants in the CEP290 gene.
Definition from the Mondo Disease Ontology (MONDO:0100451), 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.
- CEP290HGNC:29021
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: CEP290-related ciliopathy
- Also called
- CEP290 ciliopathy