Myoclonus, intractable, neonatal: genes and variants
Myoclonus, intractable, neonatal is linked to 1 analyzed protein (KIF5A). 1 DNA variants are known to cause it; 7 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 Myoclonus, intractable, neonatal
KIF5A: Kinesin heavy chain isoform 5A
It drives anterograde transport of organelles and proteins along axonal microtubules and is especially important in long motor neurons. Pathogenic variants can cause hereditary spastic paraplegia, axonal Charcot-Marie-Tooth disease, or amyotrophic lateral sclerosis depending on the affected region and mechanism.
1 disease-causing and 7 uncertain variants in KIF5A are linked to Myoclonus, intractable, neonatal.
Known disease-causing variants in Myoclonus, intractable, neonatal
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KIF5A R204Q | 204 | Kinesin motor | Disease-causing (★★) |
Same protein, different disease
- Hereditary spastic paraplegia is also caused by KIF5A variants; they fall mostly in different places as the Myoclonus, intractable, neonatal variants (24 disease-causing).
Diseases related to Myoclonus, intractable, neonatal
- Hereditary spastic paraplegia, also linked to KIF5A
- Charcot-Marie-Tooth disease, also linked to KIF5A
- Amyotrophic lateral sclerosis, also linked to KIF5A
- Auditory neuropathy, also linked to KIF5A
- Peripheral neuropathy, also linked to KIF5A
Frequently asked questions
Which genes are linked to Myoclonus, intractable, neonatal?
In CATVariant, Myoclonus, intractable, neonatal is linked to 1 analyzed protein: KIF5A (Kinesin heavy chain isoform 5A).
How many genetic variants are linked to Myoclonus, intractable, neonatal?
10 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myoclonus, intractable, neonatal 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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