Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database (http://www.pompevariantdatabase.nl) is a curated, open‐source, disease‐specific database, and lists disease‐associated GAA variants, in silico predictions, and clinical phenotypes reported until 2016. Here, we provide an update to include 226 disease‐associated variants that were published until 2020. We also listed 148 common GAA sequence variants that do not cause Pompe disease. GAA variants with unknown severity that were identified only in newborn screening programs were listed as a new feature to indicate the reason why phenotypes were still unknown. Expression studies were performed for common missense variants to predict their severity. The updated Pompe disease GAA variant database now includes 648 disease‐associated variants, 26 variants from newborn screening, and 237 variants with unknown severity. Regular updates of the Pompe disease GAA variant database will be required to improve genetic counseling and the study of genotype–phenotype relationships.

中文翻译：

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更新用于预测临床表型的 Pompe 变异数据库：新的疾病相关变异、常见序列变异和新生儿筛查结果

庞贝病是一种由与疾病相关的酸性 α-葡萄糖苷酶基因 ( GAA )变异引起的遗传性疾病。Pompe 病GAA变异数据库 (http://www.pompevariantdatabase.nl) 是一个精选的开源疾病特异性数据库，列出了与疾病相关的GAA变异、计算机预测和 2016 年之前报告的临床表型。这里，我们提供了更新，包括 2020 年之前发布的 226 个疾病相关变体。我们还列出了 148 个不引起庞贝病的常见GAA序列变体。GAA仅在新生儿筛查计划中发现的严重程度未知的变异被列为新特征，以表明表型仍然未知的原因。对常见错义变体进行表达研究以预测其严重程度。更新后的庞贝病GAA变异数据库现在包括 648 个疾病相关变异、26 个新生儿筛查变异和 237 个严重程度未知的变异。需要定期更新庞贝病GAA变异数据库，以改善遗传咨询和基因型-表型关系的研究。