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Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.
Features include always present findings: Moderate intellectual disability. 3 total HPO annotations.
Organ System |
|---|
Example Features |
|---|
Brain and nerves | 3 | Moderate intellectual disability, Seizure, Brain imaging abnormality |
CACNG2 encodes calcium voltage-gated channel auxiliary subunit gamma 2 (323 aa). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Highest expression in Brain Cerebellar Hemisphere (18.0 TPM) and Brain Cerebellum (17.7 TPM).
Intellectual disability, autosomal dominant 10 is associated with mutations in the CACNG2 gene on chromosome 22.
CACNG2 is classified as a druggable target (Cell Surface, Druggable Genome, Ion Channel, and Transporter categories) with score 0.2.
Genetic testing for CACNG2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, autosomal dominant 10 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for intellectual disability, autosomal dominant 10.
47 publications have been identified in PubMed for intellectual disability, autosomal dominant 10. Research spans Case Report / Case Series (51%), Basic Science / Preclinical (15%), and Epidemiology / Natural History (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 21 | 51% |
Laboratory research | 6 | 15% |
Disease patterns and progression | 5 | 12% |
Research summaries | 4 | 10% |
Other research | 2 | 5% |
Testing and diagnosis research | 2 | 5% |
Clinical study results | 1 | 2% |
Harripaul R (2026). [PMID: 41865132](https://pubmed.ncbi.nlm.nih.gov/41865132/). *Sci Rep*. [Epidemiology / Natural History]
Murthy H (2026). [PMID: 40717498](https://pubmed.ncbi.nlm.nih.gov/40717498/). *Brain*. [Basic Science / Preclinical]
Zhu Z (2026). [PMID: 41808101](https://pubmed.ncbi.nlm.nih.gov/41808101/). *BMC Pediatr*. [Case Report / Case Series]
Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Epidemiology / Natural History]
Rogalidou M (2026). [PMID: 41562819](https://pubmed.ncbi.nlm.nih.gov/41562819/). *Reports (MDPI)*. [Case Report / Case Series]
Musante L (2026). [PMID: 41709284](https://pubmed.ncbi.nlm.nih.gov/41709284/). *Genome Med*. [Other]
Al-Shahrani H (2026). [PMID: 41897354](https://pubmed.ncbi.nlm.nih.gov/41897354/). *Biomolecules*. [Other]
Guo W (2026). [PMID: 41810193](https://pubmed.ncbi.nlm.nih.gov/41810193/). *Transl Pediatr*. [Case Report / Case Series]
Lin S (2025). [PMID: 41190004](https://pubmed.ncbi.nlm.nih.gov/41190004/). *Front Pediatr*. [Case Report / Case Series]
Yeter B (2025). [PMID: 40742416](https://pubmed.ncbi.nlm.nih.gov/40742416/). *Eur J Pediatr*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC
Online Mendelian Inheritance in Man
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