Autosomal recessive inheritance: genes and variants
Autosomal recessive inheritance is linked to 1 analyzed protein (SCN8A). 3 DNA variants are known to cause it; 1 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 Autosomal recessive inheritance
SCN8A: Sodium channel protein type 8 subunit alpha
The protein forms Nav1.6, a voltage-gated sodium channel that sets the threshold and propagation of neuronal action potentials. It is widely important for neuronal excitability, and SCN8A variants are associated with developmental and epileptic encephalopathies.
3 disease-causing and 1 uncertain variants in SCN8A are linked to Autosomal recessive inheritance.
Known disease-causing variants in Autosomal recessive inheritance
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN8A G269R | 269 | I | Disease-causing (★★) |
| SCN8A G822R | 822 | II | Disease-causing (★★) |
| SCN8A T1360N | 1360 | III | Disease-causing (★) |
Same protein, different disease
- Early-infantile DEE is also caused by SCN8A variants; they fall mostly in different places as the Autosomal recessive inheritance variants (90 disease-causing).
- Cognitive impairment with or without cerebellar ataxia is also caused by SCN8A variants; they fall mostly in different places as the Autosomal recessive inheritance variants (22 disease-causing).
- Seizures, benign familial infantile, 3 is also caused by SCN8A variants; they fall mostly in different places as the Autosomal recessive inheritance variants (12 disease-causing).
- Complex neurodevelopmental disorder is also caused by SCN8A variants; they fall mostly in different places as the Autosomal recessive inheritance variants (8 disease-causing).
- Myoclonus, familial, 2 is also caused by SCN8A variants; they fall mostly in different places as the Autosomal recessive inheritance variants (3 disease-causing).
Diseases related to Autosomal recessive inheritance
- Early-infantile DEE, also linked to SCN8A
- Seizures, benign familial infantile, 3, also linked to SCN8A
- Amyotrophic lateral sclerosis, also linked to SCN8A
- Cardiac arrhythmia, also linked to SCN8A
- Complex neurodevelopmental disorder, also linked to SCN8A
- Cognitive impairment with or without cerebellar ataxia, also linked to SCN8A
- Epilepsy, also linked to SCN8A
- Fetal akinesia deformation sequence, also linked to SCN8A
- Infantile spasms, also linked to SCN8A
- Genetic developmental and epileptic encephalopathy, also linked to SCN8A
- Cerebellar ataxia, also linked to SCN8A
- Myoclonus, familial, 2, also linked to SCN8A
Frequently asked questions
Which genes are linked to Autosomal recessive inheritance?
In CATVariant, Autosomal recessive inheritance is linked to 1 analyzed protein: SCN8A (Sodium channel protein type 8 subunit alpha).
How many genetic variants are linked to Autosomal recessive inheritance?
4 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive inheritance 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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