Enhancing the Interpretation of Genetic Observations in KCNQ1 in Unselected Populations: Relevance to Secondary Findings.

Valeria Novelli Trent Faultless Marina Cerrone Melanie Care Martina Manzoni Sara L Bober Arnon AdlerFabio De-GiorgioDanna A Spears Michael H Gollob

Published in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2023)

Rare missense variants with a clear phenotype of LQTS have a high likelihood to be present within the pore and adjacent TM segments (S5-Pore-S6) and a greater tendency to be present within CR2. This data will enhance interpretation of secondary findings within the KCNQ1 gene. Further, our data support a more severe phenotype in LQTS patients with variants within the S5-Pore-S6 region.

Keyphrases

copy number
electronic health record
genome wide
big data
dna methylation
early onset
intellectual disability
data analysis