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Rhabdomyolysis and Metabolic Myopathy

Gene: CASQ1

Green List (high evidence)
CASQ1 (calsequestrin 1)
EnsemblGeneIds (GRCh38): ENSG00000143318
EnsemblGeneIds (GRCh37): ENSG00000143318
OMIM: 114250, Gene2Phenotype
CASQ1 is in 5 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association.

p.Asp244Gly is a founder variant
Created: 4 Apr 2022, 12:52 a.m. | Last Modified: 4 Apr 2022, 12:52 a.m.
Panel Version: 0.12498

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates MIM#616231

Publications

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

Created: 4 Apr 2022, 12:52 a.m.
Last Modified: 4 Apr 2022, 12:52 a.m.
Panel version: Imported from Mendeliome panel version 0.12498

Elena Savva (Victorian Clinical Genetics Services)

I don't know

OMIM notes adult onset

PMID: 30258016 - 22 patients (12 families) where 21/22 carried a founder mutation p.Asp244Gly.
- Patients presented with adult onset proximal weakness, quadricep atrophy and 3/22 with cardiac involvement.
- Some patients were asymptomatic and diagnosed by elevated creatine kinase.
- Youngest age at onset was 12 years old, but only 2/22 were symptomatic <30 years of age.

PMID: 25116801 - 8 patients (4 families) with mild myopathy. All patients were heterozygous for the founder mutation p.Asp244Gly. Patients were aged 23-58 years old at the time of analysis, none mentioned to have childhood onset.

PMID: 26136523 - functionally shows that missense cause both wildtype and mutation protein to aggregate and mislocalise -> evidence of dominant negative mechanism. Lack of NMD predicted variants supports this finding.

Summary: Rare reports of childhood onset, mostly adult
Sources: Expert list
Created: 15 Jun 2020, 4:06 a.m.

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

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates 616231

Publications

Mode of pathogenicity
Other

Created: 15 Jun 2020, 4:06 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.176

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exercise intolerance has been reported as the presenting symptom in at least 5 cases, mainly with the described founder mutation (p.Asp244Gly).
Sources: Literature
Created: 29 May 2020, 3:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates MIM#616231

Publications

Created: 29 May 2020, 3:14 a.m.

Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
OMIM
114250
Clinvar variants
Variants in CASQ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: casq1 has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: casq1 has been classified as Green List (High Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CASQ1 was added gene: CASQ1 was added to Rhabdomyolysis RMH. Sources: Literature Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASQ1 were set to 30258016 Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Review for gene: CASQ1 was set to GREEN