Muscular dystrophy and myopathy_Paediatric

Gene: CASQ1

Amber List (moderate evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 cases have been reported with congenital myopathy. Gain of function is expected to be the mechanism of disease.
Sources: Literature
Created: 1 Aug 2024, 2:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
tubular aggregate myopathy MONDO:0008051

Publications

Mode of pathogenicity
Other

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • tubular aggregate myopathy MONDO:0008051
OMIM
114250
Clinvar variants
Variants in CASQ1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: casq1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: casq1 has been classified as Amber List (Moderate Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CASQ1 was added gene: CASQ1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASQ1 were set to 38982518 Phenotypes for gene: CASQ1 were set to tubular aggregate myopathy MONDO:0008051 Mode of pathogenicity for gene: CASQ1 was set to Other Review for gene: CASQ1 was set to AMBER gene: CASQ1 was marked as current diagnostic