CACNA1H
HGNC:1395 · SaudiVarKB evidence summary derived from retained literature mentions.
3Gene mentions
3Publications
0Linked variants
5Associated phenotypes
Associated phenotypes
Co-mentioned in CACNA1H publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| epilepsy | HP:0001250 | 2 | 2 |
| intellectual disability | HP:0001249 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
| autism spectrum disorder | HP:0000729 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to CACNA1H| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 1 |
| Not specified | — | — | 1 |
Supporting publications
3 records- 2026Molecular Pharmacology of T-Type Calcium Channels and Their Roles in Neurological Disorders.Medicinal research reviewsPubMed ↗
- 2022Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene.Journal of epilepsy researchPubMed ↗
- 2016Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗