Activity
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3 actions
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| Acute rhabdomyolysis v2.3 | POC5 |
Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and sometimes accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel. This disorder is relevant to the R381 Other rare neuromuscular disorders super panel, which will be applied through inclusion on this panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Although rhabdomyolysis was only considered in one patient (P5 in PMID: 40590205), debilitating muscle pain/cramps (triggered by exercise and sometimes accompanied by elevated serum CK) represent a notable feature of the disorder which is best captured by this panel. |
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| Acute rhabdomyolysis v2.3 | POC5 | Arina Puzriakova Entity copied from Rhabdomyolysis and metabolic muscle disorders v5.9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v2.3 | POC5 |
Arina Puzriakova gene: POC5 was added gene: POC5 was added to Acute rhabdomyolysis. Sources: Literature,Expert Review Amber dd_review, Q3_25_promote_green tags were added to gene: POC5. Mode of inheritance for gene: POC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC5 were set to 29272404; 40590205 Phenotypes for gene: POC5 were set to Retinal dystrophy; diabetes mellitus; lipodystrophy; renal failure; abnormal muscle physiology; muscle cramps |
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