progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
MONDO:0012241Mondo
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.
Definition from the Mondo Disease Ontology (MONDO:0012241), 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.
- TWNKHGNC:1160
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- Also called
- progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNKprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions