Features include always present findings: Ataxia; and very common findings: Dysarthria. 21 total HPO annotations.

CACNA1G encodes calcium voltage-gated channel subunit alpha1 G (2,377 aa). Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Highest expression in Brain Cerebellum (32.6 TPM) and Cervix Ectocervix (19.4 TPM).

Spinocerebellar ataxia type 42 is associated with mutations in the CACNA1G gene on chromosome 17.

CACNA1G is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 2.2.

Genetic testing for CACNA1G is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia type 42 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for spinocerebellar ataxia type 42.

23 publications have been identified in PubMed for spinocerebellar ataxia type 42. Research spans Epidemiology / Natural History (30%), Diagnostic / Biomarker (26%), and Basic Science / Preclinical (17%).