TOR1AIP1-related myopathy
MONDO:0100582Mondo
Findings
No curated finding names TOR1AIP1-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.
Definition from the Mondo Disease Ontology (MONDO:0100582), 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.
- TOR1AIP1HGNC:29456
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
- Narrower terms (1)