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Article

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

1 Nov 2021

Abstract excerpt

BACKGROUND AND AIMS: Mutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life-threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The objective is to standardise and accelerate the phenotyping process to contribute to clinician diagnosis and patient counselling. In silico evaluation was also included to...

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PMID: 34841674
DOI: 10.1002/ctm2.609

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