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| Rhabdomyolysis and metabolic muscle disorders v2.5 | SCN4A | Arina Puzriakova Tag Q1_22_rating was removed from gene: SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v2.5 | SCN4A | Arina Puzriakova edited their review of gene: SCN4A: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v2.4 | SCN4A |
Arina Puzriakova Source Expert Review Green was added to SCN4A. Source NHS GMS was added to SCN4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Tag Q1_22_rating tag was added to gene: SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Classified gene: SCN4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases of SCN4A-related muscle disorders. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.72 | SCN4A | Arina Puzriakova Gene: scn4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and metabolic muscle disorders v1.42 | SCN4A |
Zornitza Stark gene: SCN4A was added gene: SCN4A was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN4A were set to 23801527; 28779239; 32978841 Phenotypes for gene: SCN4A were set to SCN4A-related muscle disorders Review for gene: SCN4A was set to GREEN gene: SCN4A was marked as current diagnostic Added comment: SCN4A variants are associated with a number of disorders disorders of abnormal skeletal muscle relaxation and contraction and rhabdomyolysis is specifically reported. Sources: Expert list |
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