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  3. CACNB1
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Skeletal Muscle Channelopathies

Gene: CACNB1

Red List (low evidence)
CACNB1 (calcium voltage-gated channel auxiliary subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000067191
EnsemblGeneIds (GRCh37): ENSG00000067191
OMIM: 114207, Gene2Phenotype
CACNB1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

A single heterozygous case with a positive IVCT muscle biopsy has been reported with p.Val156Ala. The European non-Finnish allele frequency in gnomAD v2.1 is 0.001146 (148/129,118 alleles), which is higher than the expected population frequency for dominantly inherited malignant hyperthermia (0.1%). Additionally, functional assays of this variant, suggest it would only significantly affect function in the homozygous state (suggesting a recessive condition).
Sources: Expert list
Created: 29 Jun 2020, 10:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant hyperthermia susceptibility

Publications

Created: 29 Jun 2020, 10:36 a.m.

Panel version: Imported from Mendeliome panel version 0.3182

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single heterozygous case with a positive IVCT muscle biopsy has been reported with p.Val156Ala. The European non-Finnish allele frequency in gnomAD v2.1 is 0.001146 (148/129,118 alleles), which is higher than the expected population frequency for dominantly inherited malignant hyperthermia (0.1%). Additionally, functional assays of this variant, suggest it would only significantly affect function in the homozygous state (suggesting a recessive condition).
Created: 29 Jun 2020, 3:20 a.m. | Last Modified: 29 Jun 2020, 3:20 a.m.
Panel Version: 0.5

Mode of inheritance
Unknown

Phenotypes
Malignant hyperthermia

Publications

Created: 29 Jun 2020, 3:20 a.m.
Last Modified: 29 Jun 2020, 3:20 a.m.
Panel version: 0.5

Details

Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Malignant hyperthermia susceptibility
OMIM
114207
Clinvar variants
Variants in CACNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacnb1 has been classified as Red List (Low Evidence).

29 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacnb1 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CACNB1 was added gene: CACNB1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital Mode of inheritance for gene: CACNB1 was set to Publications for gene: CACNB1 were set to 27832566; 8943043; 29212769 Phenotypes for gene: CACNB1 were set to ?Malignant hyperthermia susceptibility