Batten-Turner congenital myopathy: genes and variants
Batten-Turner congenital myopathy is linked to 1 analyzed protein (CLCN1). 2 DNA variants are known to cause it; 20 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 Batten-Turner congenital myopathy
CLCN1: Chloride channel protein 1
Its chloride conductance stabilizes the resting membrane potential of skeletal muscle and prevents repetitive firing after contraction. Loss-of-function variants cause myotonia congenita, with delayed muscle relaxation and stiffness.
2 disease-causing and 20 uncertain variants in CLCN1 are linked to Batten-Turner congenital myopathy.
Known disease-causing variants in Batten-Turner congenital myopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CLCN1 C254W | 254 | Cytoplasmic | Disease-causing (★★) |
| CLCN1 V465F | 465 | Helical | Disease-causing (★) |
Same protein, different disease
- Congenital myotonia, autosomal dominant form is also caused by CLCN1 variants; they fall mostly in different places as the Batten-Turner congenital myopathy variants (92 disease-causing).
- Congenital myotonia, autosomal recessive form is also caused by CLCN1 variants; they fall mostly in different places as the Batten-Turner congenital myopathy variants (90 disease-causing).
- Skeletal muscle channelopathy is also caused by CLCN1 variants; they fall mostly in different places as the Batten-Turner congenital myopathy variants (11 disease-causing).
Diseases related to Batten-Turner congenital myopathy
- Congenital myotonia, autosomal dominant form, also linked to CLCN1
- Congenital myotonia, autosomal recessive form, also linked to CLCN1
- Hyperkalemic periodic paralysis, also linked to CLCN1
- Hypokalemic periodic paralysis, also linked to CLCN1
- Skeletal muscle channelopathy, also linked to CLCN1
Frequently asked questions
Which genes are linked to Batten-Turner congenital myopathy?
In CATVariant, Batten-Turner congenital myopathy is linked to 1 analyzed protein: CLCN1 (Chloride channel protein 1).
How many genetic variants are linked to Batten-Turner congenital myopathy?
26 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 20 are of uncertain significance or have conflicting reports.
Which uncertain variants in Batten-Turner congenital myopathy 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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