Eichsfeld type congenital muscular dystrophy: genes and variants
Eichsfeld type congenital muscular dystrophy is linked to 1 analyzed protein (SELENON). 7 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Eichsfeld type congenital muscular dystrophy
SELENON: Selenoprotein N
It helps maintain redox and calcium homeostasis within the endoplasmic reticulum of skeletal muscle, particularly during oxidative and mechanical stress. Biallelic loss-of-function variants cause SELENON-related myopathy, often with axial weakness, rigid spine, and disproportionate respiratory impairment.
7 disease-causing and 0 uncertain variants in SELENON are linked to Eichsfeld type congenital muscular dystrophy.
Known disease-causing variants in Eichsfeld type congenital muscular dystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SELENON R469Q | 469 | Disease-causing (★★) | |
| SELENON R469W | 469 | Disease-causing (★★) | |
| SELENON H293R | 293 | Disease-causing (★★) | |
| SELENON G315S | 315 | Disease-causing (★★) | |
| SELENON R466Q | 466 | Disease-causing (★★) | |
| SELENON W453S | 453 | Disease-causing (★) | |
| SELENON G273E | 273 | Disease-causing |
Diseases related to Eichsfeld type congenital muscular dystrophy
- Muscular dystrophy, also linked to SELENON
- Myopathy, also linked to SELENON
Frequently asked questions
Which genes are linked to Eichsfeld type congenital muscular dystrophy?
In CATVariant, Eichsfeld type congenital muscular dystrophy is linked to 1 analyzed protein: SELENON (Selenoprotein N).
How many genetic variants are linked to Eichsfeld type congenital muscular dystrophy?
7 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Eichsfeld type congenital muscular dystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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