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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 v3.102 STIM1 Arina Puzriakova Phenotypes for gene: STIM1 were changed from Myopathy, tubular aggregate, 160565 to Myopathy, tubular aggregate, 1, OMIM:160565
Congenital myopathy v1.120 STIM1 Rachael Mein edited their review of gene: STIM1: Changed publications: 23332920; Changed phenotypes: Myopathy, tubular aggregate, 160565
Congenital myopathy v1.76 STIM1 Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 STIM1 Rachael Mein reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26780752, 16365872; Phenotypes: Muscular dystrophy, rigid spine, 1, 602771, Myopathy, congenital, with fiber-type disproportion, 255310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Congenital myopathy v1.74 STIM1 Louise Daugherty Source NHS GMS was added to STIM1.
Congenital myopathy v1.73 STIM1 Louise Daugherty Source London South GLH was added to STIM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy STIM1 Sarah Leigh reviewed STIM1
Congenital myopathy STIM1 Anna Sarkozy reviewed STIM1
Congenital myopathy STIM1 Helen Brittain marked STIM1 as ready
Congenital myopathy STIM1 Helen Brittain classified STIM1 as green
Congenital myopathy STIM1 Helen Brittain reviewed STIM1