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  2. Congenital myopathy
  3. CACNA1H
STRs in panel
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Congenital myopathy

Gene: CACNA1H

No list
CACNA1H (calcium voltage-gated channel subunit alpha1 H)
EnsemblGeneIds (GRCh38): ENSG00000196557
EnsemblGeneIds (GRCh37): ENSG00000196557
OMIM: 607904, Gene2Phenotype
CACNA1H is in 5 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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

Created: 22 May 2026, 1:49 p.m.
Last Modified: 22 May 2026, 1:49 p.m.
Panel version: 7.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
607904
Clinvar variants
Variants in CACNA1H
Penetrance
None
Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cacna1h has been removed from the panel.

22 May 2026, Gel status: 1

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