Hypomagnesemia, seizures, and intellectual disability 2: genes and variants
Hypomagnesemia, seizures, and intellectual disability 2 is linked to 1 analyzed protein (ATP1A1). 6 DNA variants are known to cause it; 11 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 Hypomagnesemia, seizures, and intellectual disability 2
ATP1A1: Sodium/potassium-transporting ATPase subunit alpha-1
It maintains sodium and potassium gradients that underlie membrane potential, secondary transport, and cell-volume control in most tissues. Germline pathogenic variants can cause neurologic or electrolyte disorders, while somatic adrenal variants can drive primary aldosteronism.
6 disease-causing and 11 uncertain variants in ATP1A1 are linked to Hypomagnesemia, seizures, and intellectual disability 2.
Where Hypomagnesemia, seizures, and intellectual disability 2 variants cluster
- ATP1A1 Transmembrane (positions 291–312): 3 of 6 disease-causing changes, 23.2× more than its size predicts.
Known disease-causing variants in Hypomagnesemia, seizures, and intellectual disability 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A1 L302R | 302 | Transmembrane | Disease-causing (★) |
| ATP1A1 M859R | 859 | Transmembrane | Disease-causing (★) |
| ATP1A1 A274G | 274 | Cytoplasmic | Disease-causing (★) |
| ATP1A1 L302P | 302 | Transmembrane | Disease-causing |
| ATP1A1 G303R | 303 | Transmembrane | Disease-causing |
| ATP1A1 W931R | 931 | Transmembrane | Disease-causing |
Same protein, different disease
- Charcot-Marie-tooth disease, axonal, type 2DD is also caused by ATP1A1 variants; they fall mostly in different places as the Hypomagnesemia, seizures, and intellectual disability 2 variants (6 disease-causing).
Diseases related to Hypomagnesemia, seizures, and intellectual disability 2
- Charcot-Marie-tooth disease, axonal, type 2DD, also linked to ATP1A1
Frequently asked questions
Which genes are linked to Hypomagnesemia, seizures, and intellectual disability 2?
In CATVariant, Hypomagnesemia, seizures, and intellectual disability 2 is linked to 1 analyzed protein: ATP1A1 (Sodium/potassium-transporting ATPase subunit alpha-1).
How many genetic variants are linked to Hypomagnesemia, seizures, and intellectual disability 2?
19 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 11 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypomagnesemia, seizures, and intellectual disability 2 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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