scapuloperoneal spinal muscular atrophy, autosomal dominant
MONDO:0008408Mondo
Findings
No curated finding names scapuloperoneal spinal muscular atrophy, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- TRPV4HGNC:18083
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: scapuloperoneal spinal muscular atrophy, autosomal dominant
- Also called
- neurogenic scapuloperoneal amyotrophy, New England typescapuloperoneal neuronopathyscapuloperoneal spinal muscular atrophySPSMA