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A reference for what the literature reports. Not medical advice.

Disease

TOPORS-related retinopathy

MONDO:0700233Mondo

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Findings

No curated finding names TOPORS-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 TOPORS gene.

Definition from the Mondo Disease Ontology (MONDO:0700233), 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.

TOPORSHGNC:21653
- Definitive · ClinGen · Autosomal dominant · 2023

Where it sits

A kind of: inherited retinal dystrophy
Narrower terms (1): retinitis pigmentosa 31