LMNA公司
肥厚性心肌病
扩张型心肌病
MYH7
医学
遗传学
心肌病
基因检测
基因
心脏病学
内科学
生物
心力衰竭
突变
基因亚型
作者
Elizabeth Jordan,Laiken Peterson,Tomohiko Ai,Babken Asatryan,Lucas Bronicki,Emily Brown,Rudy Celeghin,Matthew Edwards,Judy Fan,Jodie Ingles,Cynthia A. James,Olga Jarinova,Renée Johnson,Daniel P. Judge,Najim Lahrouchi,Ronald H. Lekanne Deprez,R Thomas Lumbers,Francesco Mazzarotto,Argelia Medeiros‐Domingo,Rebecca L. Miller
出处
期刊:Circulation
[Lippincott Williams & Wilkins]
日期:2021-05-05
卷期号:144 (1): 7-19
被引量:485
标识
DOI:10.1161/circulationaha.120.053033
摘要
In the curation of 51 genes, 19 had high evidence (12 definitive/strong, 7 moderate). It is notable that these 19 genes explain only a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed. Clinical genetic testing panels include most high-evidence genes; however, genes lacking robust evidence are also commonly included. We recommend that high-evidence DCM genes be used for clinical practice and that caution be exercised in the interpretation of variants in variable-evidence DCM genes.
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