Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) Phenylalanine-hydroxylase-deficiency-EBG

ACMG，全称为American College of Medical Genetics and Genomics美国医学遗传学与基因组学学会。 利用新一代测序技术, 临床实验室检测遗传性疾病的产品种类不断增加, 包括基因分型、单基因、外显子组、基因组、转录组和表观遗传学检测，遗传病患者样本中所检测基因数目的快速增加，临床分子实验室检测到越来越多的新的序列变异。某些表型仅与单个基因相关，而多数表型与多个基因相关。判断一个位点是否致病极其复杂，随着技术的复杂性日益增加, 基因检测在序列 …

《ACMG（美国医学遗传学和基因组学学会）遗传变异分类标准与指南》 1、是什么. 是一套用于评估和解读基因变异的临床标准。 这些标准旨在帮助临床遗传学家和分子遗传学实验室更准确地识别和分类基因变异，从而为患者提供更准确的诊断和治疗建议。 2、背景. 随着基因组学和分子遗传学技术的发展，对基因变异的检测和解读变得越来越重要。 基因变异可能与多种遗传病和疾病风险相关，但并非所有变异都具有明确的临床意义。 因此，需要一套标准化的方法来评估这些变 …

This report represents expert opinion of the workgroup with input from ACMG, AMP, and College of American Pathologists stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories, including genotyping, single genes, panels, exomes, and …

2025年3月24日 · ClinVar CM and ARM datasets, which include all missense variants in CM and ARM, respectively, were extracted from ClinVar 11. Missense CM and ARM sequences were extracted on the basis of the ...

As the fundraising arm of the American College of Medical Genetics and Genomics, the ACMG Foundation serves as the conduit for change through raising financial support for existing initiatives that promote the work of the organization in three primary areas: (1) Clinical Laboratory Practice, (2) Education and (3) Advocacy.

An automatic tool for the classification of sequence variants along ACMG criteria. For further information, please refer to the documentation. Automatic classification of sequence variants …

2023年7月14日 · The ACMG classification uses a specific standard terminology to describe gene variants that are the cause of Mendelian disorders and is based on a complex process for assigning a variant to one of the five ACMG categories (15, 16): Variants classified as pathogenic (ACMG 5) or likely pathogenic (ACMG 4) have met specific criteria and may be ...

2024年11月7日 · acmg制定关于孟德尔遗传病变异解读标准与指南（什么发生了变异，变异到什么程度 → 可能导致疾病的发生），提出了28条独立的诊断证据和最终判定的5条诊断结论，辅助医生的临床实践。

2016年7月，美国医学遗传学与基因组学学会(acmg)更新发布了关于胎儿染色体非整倍体无创产前筛查的立场声明，该立场声明主要作为一种教育资源为帮助临床医生提供更加优质的医疗服务，是对2013版的更新。