Cerebellar atrophy with seizures and variable developmental delay: genes and variants
Cerebellar atrophy with seizures and variable developmental delay is linked to 1 analyzed protein (CACNA2D2). 3 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 Cerebellar atrophy with seizures and variable developmental delay
CACNA2D2: Voltage-dependent calcium channel subunit alpha-2/delta-2
It promotes trafficking and functional expression of voltage-gated calcium-channel complexes and is particularly important in cerebellar neurons. Biallelic loss-of-function variants can cause developmental epileptic encephalopathy with cerebellar atrophy and ataxia.
3 disease-causing and 7 uncertain variants in CACNA2D2 are linked to Cerebellar atrophy with seizures and variable developmental delay.
Known disease-causing variants in Cerebellar atrophy with seizures and variable developmental delay
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CACNA2D2 L1128R | 1128 | Transmembrane | Disease-causing (★) |
| CACNA2D2 L1047P | 1047 | Extracellular | Disease-causing |
| CACNA2D2 L1053P | 1053 | Extracellular | Disease-causing |
Diseases related to Cerebellar atrophy with seizures and variable developmental delay
- Early-infantile DEE, also linked to CACNA2D2
- Epilepsy, also linked to CACNA2D2
- Genetic developmental and epileptic encephalopathy, also linked to CACNA2D2
- Cerebellar atrophy, developmental delay, and seizures, also linked to CACNA2D2
Frequently asked questions
Which genes are linked to Cerebellar atrophy with seizures and variable developmental delay?
In CATVariant, Cerebellar atrophy with seizures and variable developmental delay is linked to 1 analyzed protein: CACNA2D2 (Voltage-dependent calcium channel subunit alpha-2/delta-2).
How many genetic variants are linked to Cerebellar atrophy with seizures and variable developmental delay?
10 variants: 3 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 Cerebellar atrophy with seizures and variable developmental delay 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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