Congenital myopathy
Gene: CASQ1The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.88
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, none congenitalCreated: 15 Jun 2020, 8:40 a.m. | Last Modified: 15 Jun 2020, 8:40 a.m.
Panel Version: 2.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates 616231
Publications
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates 616231
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Adult affected with mild myopathy and therefore phenotype not appropriate for inclusion on this panel based upon the current evidence.Created: 7 Mar 2017, 4:27 p.m.
Comment on list classification: Associated with the phenotype but age of onset well into adulthood in most cases found. Therefore not considered appropriate.Created: 7 Mar 2017, 4:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal
Phenotypes
Vacuolar myopathy with CASQ1 aggregates (VMCQA)
Publications
Mode of inheritance for gene: CASQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CASQ1 were set to 25116801
Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231
Source Expert Review Red was added to CASQ1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Phenotypes for gene: CASQ1 were changed from Vacuolar myopathy with CASQ1 aggregates (VMCQA) to Vacuolar myopathy with CASQ1 aggregates (VMCQA); Myopathy, vacuolar, with CASQ1 aggregates, 616231
Source NHS GMS was added to CASQ1.
Source London South GLH was added to CASQ1.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CASQ1 was added to Congenital myopathypanel. Sources: UCL
CASQ1 was created by anna.sarkozy