Thyrotoxic periodic paralysis, susceptibility to, 1: genes and variants
Thyrotoxic periodic paralysis, susceptibility to, 1 is linked to 1 analyzed protein (CACNA1S). 1 DNA variants are known to cause it; 131 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 Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S: Voltage-dependent L-type calcium channel subunit alpha-1S
Its voltage sensing in skeletal-muscle transverse tubules mechanically activates RYR1 and couples membrane depolarization to sarcoplasmic-reticulum calcium release. Pathogenic variants can cause hypokalemic periodic paralysis, malignant-hyperthermia susceptibility, and congenital myopathy.
1 disease-causing and 131 uncertain variants in CACNA1S are linked to Thyrotoxic periodic paralysis, susceptibility to, 1.
Known disease-causing variants in Thyrotoxic periodic paralysis, susceptibility to, 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CACNA1S R528H | 528 | II | Disease-causing (★★) |
Same protein, different disease
- Hypokalemic periodic paralysis is also caused by CACNA1S variants; they fall mostly in different places as the Thyrotoxic periodic paralysis, susceptibility to, 1 variants (14 disease-causing).
Diseases related to Thyrotoxic periodic paralysis, susceptibility to, 1
- Hypokalemic periodic paralysis, also linked to CACNA1S
- Skeletal muscle channelopathy, also linked to CACNA1S
- Epilepsy, also linked to CACNA1S
- Diabetes mellitus, also linked to CACNA1S
- Myocardial infarction, also linked to CACNA1S
- Myopathy, also linked to CACNA1S
Frequently asked questions
Which genes are linked to Thyrotoxic periodic paralysis, susceptibility to, 1?
In CATVariant, Thyrotoxic periodic paralysis, susceptibility to, 1 is linked to 1 analyzed protein: CACNA1S (Voltage-dependent L-type calcium channel subunit alpha-1S).
How many genetic variants are linked to Thyrotoxic periodic paralysis, susceptibility to, 1?
134 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 131 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thyrotoxic periodic paralysis, susceptibility to, 1 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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