Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes.

Kathryn M Curry¹, Amar Mujkic¹, Natalie Syverud¹, Anna K McGill¹, Jane E Beckwell¹, Elizabeth A Wiley¹, Jeffrey Bissonnette¹, Amina Kurtovic-Kozaric¹, Mark J Kiel¹

¹Genomenon, Ann Arbor, MI, United States.

PubMed PMC DOI PDF

Abstract

The calcium (Ca2+) sensor calmodulin (CaM) genes CALM1, CALM2, and CALM3 were recently included in the American College Medical Genetics and Genomics (ACMG) secondary findings (SF) list, given their significance in causing long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). These three genes share identical protein sequences, posing potential challenges in var…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free Account Sign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.