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Congenital myopathy v6.39 CASQ1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 12th Nov 2025.
Congenital myopathy v6.39 CASQ1 Ida Ertmanska Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 to Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231; myopathy due to calsequestrin and SERCA1 protein overload, MONDO:0014546
Congenital myopathy v6.38 CASQ1 Ida Ertmanska reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: 30258016; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v6.35 CASQ1 Anna Sarkozy commented on gene: CASQ1: Calsequestrin (CASQ) is the main Ca2+ buffer in the terminal cisternae, part of the so called Triad. Other forms of congenital myopathies are caused by genetic defects in components of the triad such as RYR1, ORAI1, STIM1 and now also CASQ1. patients with CASQ1 pathogenic variants usually present with high CK levels, mild proximal weakness, and myalgia. variable age at onset, mostly in adult life. muscle biopsy findings were typically myopathic with vacuolar inclusions strongly react with antibodies against SR calcium–machinery proteins and also tubular aggregates. These features are in part similar and overlapping what seen in association with other diseases associated with the triad.
Congenital myopathy v6.35 CASQ1 Anna Sarkozy edited their review of gene: CASQ1: Added comment: Calsequestrin (CASQ) is the main Ca2+ buffer in the terminal cisternae, part of the so called Triad. Other forms of congenital myopathies are caused by genetic defects in components of the triad such as RYR1, ORAI1, STIM1 and now also CASQ1. patients with CASQ1 pathogenic variants usually present with high CK levels, mild proximal weakness, and myalgia. variable age at onset, mostly in adult life. muscle biopsy findings were typically myopathic with vacuolar inclusions strongly react with antibodies against SR calcium–machinery proteins and also tubular aggregates. These features are in part similar and overlapping what seen in association with other diseases associated with the triad.; Changed rating: GREEN; Changed publications to: PMID: 30258016; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v3.25 CASQ1 Arina Puzriakova Mode of inheritance for gene: CASQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital myopathy v3.24 CASQ1 Arina Puzriakova Publications for gene: CASQ1 were set to 25116801
Congenital myopathy v3.23 CASQ1 Arina Puzriakova 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
Congenital myopathy v2.88 CASQ1 Arina Puzriakova commented on gene: CASQ1
Congenital myopathy v2.87 CASQ1 Arina Puzriakova Source Expert Review Red was added to CASQ1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Congenital myopathy v2.5 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: 30258016, 25116801, 26136523; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital myopathy v1.145 CASQ1 Louise Daugherty 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
Congenital myopathy v1.120 CASQ1 Rachael Mein edited their review of gene: CASQ1: Changed rating: AMBER; Changed publications: 25116801; Changed phenotypes: Myopathy, vacuolar, with CASQ1 aggregates 616231
Congenital myopathy v1.76 CASQ1 Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 CASQ1 Rachael Mein reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17444505, 23975875, 28295036; Phenotypes: Myopathy, early-onset, with fatal cardiomyopathy, 611705; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.75 CFL2 Rachael Mein reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25116801; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, 616231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.74 CASQ1 Louise Daugherty Source NHS GMS was added to CASQ1.
Congenital myopathy v1.73 CASQ1 Louise Daugherty Source London South GLH was added to CASQ1.
Congenital myopathy CASQ1 Helen Brittain marked CASQ1 as ready
Congenital myopathy CASQ1 Helen Brittain classified CASQ1 as amber
Congenital myopathy CASQ1 Helen Brittain commented on CASQ1
Congenital myopathy CASQ1 Anna Sarkozy reviewed CASQ1