ATF6-related retinopathy
MONDO:0100447Mondo
Findings
No curated finding names ATF6-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy caused by biallelic variants in the AFT6 gene.
Definition from the Mondo Disease Ontology (MONDO:0100447), 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.
- ATF6HGNC:791
- Definitive · ClinGen · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: ATF6-related retinopathy
- Also called
- ATF6 retinopathy