Rhabdomyolysis and Metabolic Myopathy
Gene: CASQ1
Established association.
p.Asp244Gly is a founder variantCreated: 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
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 listCreated: 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
Exercise intolerance has been reported as the presenting symptom in at least 5 cases, mainly with the described founder mutation (p.Asp244Gly).
Sources: LiteratureCreated: 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
Gene: casq1 has been classified as Green List (High Evidence).
Gene: casq1 has been classified as Green List (High Evidence).
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