Autism
Gene: CACNA1H

CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 4 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Only one publication links CACNA1H variants to autism. In a cohort of 461 individuals with ASD, 6 families with 4 variants in CACNA1H were identified. 3 of the families showed clear non-segregation (variant not present in an affected sibling). The variant was demonstrably inherited in 4 families although phenotypic information was unavailable for the parents. None of the variants were confirmed de novo. 3 families shared the same 2 variants in cis (R1871Q [>10000 hets in gnomAD] + A1874V [45 hets in gnomAD]). Other variants range in frequency in gnomAD from 0 to 17 hets.

A 2020 review of genetic associations between voltage-gated calcium channels and autism spectrum disorder found no further published evidence.
Created: 14 Apr 2021, 8:14 a.m. | Last Modified: 14 Apr 2021, 8:14 a.m.

Panel Version: 0.141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autism spectrum disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Apr 2021, 8:14 a.m.
Last Modified: 14 Apr 2021, 8:14 a.m.
Panel version: 0.141

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Autism spectrum disorder

OMIM

607904

Clinvar variants

Variants in CACNA1H

Penetrance

None

Publications

Panels with this gene