GUCY2D-related dominant retinopathy
MONDO:0100441Mondo
Findings
No curated finding names GUCY2D-related dominant retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
Definition from the Mondo Disease Ontology (MONDO:0100441), 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.
- GUCY2DHGNC:4689
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: GUCY2D-related dominant retinopathy
- Also called
- dominant GUCY2D retinopathy