exudative vitreoretinopathy 5
Findings
No curated finding names exudative vitreoretinopathy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene.
Definition from the Mondo Disease Ontology (MONDO:0013218), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced visual acuityHPOHP:0007663
- 3 of 6 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 6 reported patients
- Falciform retinal foldHPOHP:0001493
- 2 of 6 reported patients
- Exudative vitreoretinopathyHPOHP:0030490
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.
- TSPAN12HGNC:21641
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: exudative vitreoretinopathy 5
- Also called
- exudative vitreoretinopathy caused by mutation in TSPAN12exudative vitreoretinopathy type 5TSPAN12 exudative vitreoretinopathy