SNRNP200-related dominant retinopathy
MONDO:0800098Mondo
Findings
No curated finding names SNRNP200-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 heterozygous variants in the SNRNP200 gene.
Definition from the Mondo Disease Ontology (MONDO:0800098), 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.
- SNRNP200HGNC:30859
- Definitive · ClinGen · Autosomal dominant · 2022
Where it sits
- A kind of
- Narrower terms (1)