Emery-Dreifuss muscular dystrophy 4, autosomal dominant
MONDO:0013071Mondo
Findings
No curated finding names Emery-Dreifuss muscular dystrophy 4, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013071), 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.
- SYNE1HGNC:17089
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Limited · Illumina · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
2 names
Resolves to: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- Also called
- autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy