IMPDH1-related retinopathy
MONDO:1040051Mondo
Findings
No curated finding names IMPDH1-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinopathy caused by a variant in the IMPDH1 gene.
Definition from the Mondo Disease Ontology (MONDO:1040051), 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.
- IMPDH1HGNC:6052
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (2)