Congenital myopathy
Gene: CACNA1HEnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 5 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: Although there are three unrelated individuals reported with biallelic CACNA1H variants so far, only one of them was reported with congenital amyotrophy/ myopathy. There is also functional evidence available in support of the association. Hence, this gene can only be rated amber with current evidence on this panel.Created: 27 May 2026, 6:53 p.m. | Last Modified: 27 May 2026, 6:53 p.m.
Panel Version: 7.28
PMID:25773295 (2015) reported exome sequencing of 44 amyotrophic lateral sclerosis (ALS) proband-unaffected parents trios, of which one patient (Trio #14) was identified with two compound heterozygous missense variants in CACNA1H gene (p. Val1683Met
and p.Ala1699Thr).
PMID:31070086 (2019) reported a 13-month-old girl with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H were identified (p.Val681Leu and p.Asp1233His). Patch-clamp electrophysiology of the individual variants and co-expression showed alterations of Cav3.2 gating properties collectively consistent with a loss-of-channel function.
PMID:41272325 (2026) reported a 4-year-old boy diagnosed with epilepsy with myoclonic-atonic seizures, and identified with two missense variants in CACNA1H. One was a novel variant, p.Asp949His, while the other was a known variant, p.Arg788Cys (previously reported in heterozygous state in patients from PMID:1289167).
Biallelic variants in CACNA1H are not yet associated with relevant phenotypes either in OMIM, ClinGen, Gene2Phenotype or PanelApp Australia.Created: 27 May 2026, 6:34 p.m. | Last Modified: 27 May 2026, 6:34 p.m.
Panel Version: 7.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Anna Sarkozy (Great Ormond Street Hospital)
mutations identified in rare cases of severe congenital amyoplasia/myopathy. This condition presents with severe early-onset muscle weakness and atrophy, representing a potential novel form of congenital myopathy linked to channel loss-of-function.Created: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- OMIM
- 607904
- Clinvar variants
- Variants in CACNA1H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cacna1h has been classified as Amber List (Moderate Evidence).
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: CACNA1H were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: CACNA1H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cacna1h has been removed from the panel.
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: CACNA1H was added gene: CACNA1H was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown