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Congenital myopathy v7.61 CASQ1 Arina Puzriakova changed review comment from: Phenotype is not within the scope of the panel - the disorder associated with CASQ1 variants is characterised by adult-onset myalgia, proximal weakness, fatigue, and elevated serum creatine kinase. Although there is some phenotypic overlap other congenital myopathies, there are no congenital reports associated with this gene, and even childhood onset cases are very rare. Therefore maintaining Red rating on this panel.; to: Phenotype is not within the scope of the panel - the disorder associated with CASQ1 variants is characterised by adult-onset myalgia, proximal weakness, fatigue, and elevated serum creatine kinase. The phenotype is better aligned with rhabdomyolysis panels where it is already Green or tagged for promotion. Although there is some phenotypic overlap other congenital myopathies, there are no congenital reports associated with this gene, and even childhood onset cases are very rare. Therefore maintaining Red rating on this panel.
Congenital myopathy v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2026-05-06
Congenital myopathy v6.45 Achchuthan Shanmugasundram Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2025-04-30
Congenital myopathy v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-10-30
Congenital myopathy v4.39 Arina Puzriakova Panel version 4.38 has been signed off on 2024-08-07
Congenital myopathy v4.38 Ivone Leong Panel version 4.37 has been signed off on 2024-05-01
Congenital myopathy v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Congenital myopathy v3.44 GNE Arina Puzriakova Phenotypes for gene: GNE were changed from Nonaka myopathy 605820 to Nonaka myopathy, OMIM:605820
Congenital myopathy v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
Congenital myopathy v2.3 Catherine Snow Panel version has been signed off
Congenital myopathy v2.2 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy v1.235 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Congenital myopathy GNE Anna Sarkozy reviewed GNE
Congenital myopathy GNE Helen Brittain marked GNE as ready
Congenital myopathy GNE Helen Brittain classified GNE as red
Congenital myopathy GNE Helen Brittain reviewed GNE