collagen 6-related myopathy
Findings
No curated finding names collagen 6-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.
Definition from the Mondo Disease Ontology (MONDO:0100225), read 2026-09-29. CC BY 4.0.
Genes
3 genes
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.
- COL6A1HGNC:2211
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · ClinGen · Autosomal dominant · 2022
- COL6A2HGNC:2212
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · ClinGen · Autosomal dominant · 2022
- COL6A3HGNC:2213
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · ClinGen · Autosomal dominant · 2022
Where it sits
- Narrower terms (3)
Other names
4 names
Resolves to: collagen 6-related myopathy
- Also called
- collagen VI-related dystrophycollagen VI-related muscle disordercollagen VI-related muscular dystrophycollagen VI-related myopathy