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庞佩病的变异分类;来自ClinGen Lysosomal疾病变异治愈专家小组的ACMG/AMP规范

Jennifer L Goldstein¹, Jennifer McGlaughon², Dona Kanavy³

¹Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Molecular genetics and metabolism

|October 31, 2023

概括

临床基因组资源 (ClinGen) 制定了专门的指导方针,用于对庞培病中的GAA基因变异进行分类. 这项工作提高了基因变异解释的准确性,有助于诊断和携带者识别.

科学领域:

基因组学和精准医学精准医学
临床遗传学临床遗传学
生物疗法是一种生物疗法.

背景情况:

对遗传变异的准确临床意义确定对于将基因组学纳入医疗保健至关重要.
临床基因组资源 (ClinGen) 使用变异修复专家小组 (VCEPs) 指定基因和疾病特定的变异分类指南.
庞培病的诊断,携带者鉴定和新生儿查解释依赖于准确的遗传变异分类.

研究的目的:

确定美国医学遗传学与基因组学学院和分子病理学协会 (ACMG/AMP) 对佩病的GAA变异的标准.
更新GAA特定变体分类指南,并将ClinGen Lysosomal Diseases (LD) VCEP分类与现有的ClinVar数据进行比较.
增强公众对GAA变体致病性的知识基础,并解决分类差异.

主要方法:

根据ClinGen LD VCEP针对GAA变体量身定制的ACMG/AMP标准的规范.
向公共数据库 (ClinVar,ClinGen证据库) 提交专家策划的GAA变体分类和支持数据.
对LD VCEP的GAA变体分类与提交给ClinVar.com的GAA变体分类进行比较分析.

主要成果:

据了解,LD VCEP已经向公共数据库提交了243个GAA变体的分类.
由于VCEP的努力,在ClinVar.Var中增加了专家策划的GAA变体的数量.
这项工作有助于解决冲突的分类,并解决不确定的意义的变体.

结论:

在ClinGen LD VCEP已经成功地适应和具体的ACMG/AMP标准GAA变体在佩病.
精心策划的变体数据提高了Pompe病诊断和新生儿查遗传测试的可靠性.
这一举措为了解和临床解释GAA变体做出了重大贡献.

关键词:

一个ClinGen变异治疗专家小组组.克林瓦尔 (ClinVar) 是一个在GAA中,GAA是一般的.糖原储存疾病II类型庞贝病是庞贝病的一种疾病.变体分类的变体分类

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