Activity
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| Congenital myopathy v6.38 | PNPLA2 |
Ida Ertmanska changed review comment from: Biallelic mutations in PNPLA2 are associated with Neutral lipid-storage disease with myopathy, OMIM:610717 (NLSDM) - phenotype accessed 30th Oct 2025). PMID: 37620213 Fu et al., 2023 - literature review 11 childhood-onset and 82 adult-onset patients; only 6/11 childhood onset patients presented with muscle weakness. NLSDM is often diagnosed by presence of Jordan's anomaly on a peripheral blood smear and elevated CK - some cases asymptomatic until later life. Age of disease onset in the childhood cases ranged from shortly after birth to 11yo. However, the onset of myopathy occurred several years after the initial symptoms in all individuals (between 3-33 years after initial symptoms).; to: Biallelic mutations in PNPLA2 are associated with Neutral lipid-storage disease with myopathy, OMIM:610717 (NLSDM) - phenotype accessed 30th Oct 2025). PMID: 37620213 Fu et al., 2023 - literature review 11 childhood-onset and 82 adult-onset patients; only 6/11 childhood onset patients presented with muscle weakness. NLSDM is often diagnosed by presence of Jordan's anomaly on a peripheral blood smear and elevated CK - some cases asymptomatic until later life. Age of disease onset in the childhood cases ranged from shortly after birth to 11yo. However, the onset of myopathy occurred several years after the initial symptoms in all individuals (between 3-33 years after initial symptoms). PNPLA2 is already Green on the Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies panel. |
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| Congenital myopathy v6.38 | PNPLA2 | Ida Ertmanska commented on gene: PNPLA2: Comment on list classification: The average age of onset for Neutral lipid-storage disease with myopathy is around 30 years old. Among childhood-onset patients, many do not initially present with myopathy. Based on the available evidence, this gene is not in scope of the Congenital myopathy panel and should remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.38 | PNPLA2 | Ida Ertmanska reviewed gene: PNPLA2: Rating: RED; Mode of pathogenicity: None; Publications: 21544567, 37620213, 40919432; Phenotypes: Neutral lipid-storage disease with myopathy, OMIM:610717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v6.35 | PNPLA2 | Anna Sarkozy edited their review of gene: PNPLA2: Added comment: variants in this gene have now been reported in young individuals presenting with progressive skeletal myopathy, raised CK, and sometimes cardiomyopathy and liver dysfunction. these findings suggest that variants in this gene can be associated with an early onset form of myopathy, supporting green rating of this gene.; Changed rating: GREEN; Changed publications to: PMID: 21544567, PMID: 40919432, PMID: 37620213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.83 | PNPLA2 | Arina Puzriakova Phenotypes for gene: PNPLA2 were changed from Neutral Lipid Storage Disease with Myopathy; Neutral lipid storage disease with myopathy, 610717 to Neutral lipid storage disease with myopathy, OMIM:610717 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | PNPLA2 | Anna Sarkozy reviewed PNPLA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | PNPLA2 | Helen Brittain marked PNPLA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | PNPLA2 | Helen Brittain classified PNPLA2 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy | PNPLA2 | Helen Brittain reviewed PNPLA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||