CAPN5-related vitreoretinopathy
MONDO:0100450Mondo
Findings
No curated finding names CAPN5-related vitreoretinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
Definition from the Mondo Disease Ontology (MONDO:0100450), 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.
- CAPN5HGNC:1482
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: CAPN5-related vitreoretinopathy
- Also called
- ADNIVautosomal dominant neovascular inflammatory vitreoretinopathyCAPN5 vitreoretinopathyretinitis proliferansvitreoretinopathy, neovascular inflammatoryvitreoretinopathy, neovascular inflammatory, autosomal dominantVRNI