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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 v3.87 RYR1 Arina Puzriakova Phenotypes for gene: RYR1 were changed from Central core disease 117000; Minicore myopathy with external ophthalmoplegia 255320; Neuromuscular disease, congenital, with uniform type 1 fiber 117000; Malignant hyperthermia susceptibility 1 145600 to Central core disease, OMIM:117000; Neuromuscular disease, congenital, with uniform type 1 fiber, OMIM:117000; Minicore myopathy with external ophthalmoplegia, OMIM:255320; King-Denborough syndrome, OMIM:619542
Congenital myopathy v1.166 SRPK3 Louise Daugherty changed review comment from: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.; to: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446 is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.166 SRPK3 Louise Daugherty commented on gene: SRPK3: Note : The review uploaded on behalf of Rachael Mein (Viapath at Guy's Hospital) publication PMID: 26799446
is incorrect. The original file from London South GLH correctly associates PMID: 26799446 to the gene RYR1, but for SRPK3 the publication field was blank (no data was supplied as evidence). The Green review rating for SRPK3 is the rating given by London South GLH. There is currently not enough evidence to support a Green rating. Rating to be discussed by the Neurology Test Group to confirm rating.
Congenital myopathy v1.120 RYR1 Rachael Mein edited their review of gene: RYR1: Changed publications: 26799446; Changed phenotypes: Central core disease 117000, Minicore myopathy with external ophthalmoplegia 255320, Neuromuscular disease, congenital, with uniform type 1 fiber 117000, Malignant hyperthermia susceptibility 1 145600
Congenital myopathy v1.76 RYR1 Louise Daugherty reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 RYR1 Rachael Mein reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28017374; Phenotypes: Nemaline myopathy 617336; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital myopathy v1.74 RYR1 Louise Daugherty Source NHS GMS was added to RYR1.
Congenital myopathy v1.73 RYR1 Louise Daugherty Source London South GLH was added to RYR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy RYR1 Anna Sarkozy reviewed RYR1
Congenital myopathy RYR1 Helen Brittain marked RYR1 as ready
Congenital myopathy RYR1 Helen Brittain classified RYR1 as green
Congenital myopathy RYR1 Helen Brittain reviewed RYR1