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Article

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Human molecular genetics - 10 Feb 2026

Hoang Hieu D, Spillmann Rebecca C, Wegner Daniel J, Tedesco Maria G, Brohus Malene, Novelli Antonio, Stregapede Fabrizia, Rogaia Daniela, Troiani Stefania, Lesinski Jacob, Yuan Weimin, Fielder Sara M, Zhang Bo, Morrison Stephanie, Regmi Suk, Foti Miryam R S, Baldridge Dustin, Silverman Gary A, Shea Patrick, Dickson Patricia, Wambach Jennifer A, Overgaard Michael T, Jensen Helene H, Olsen Anders, Prontera Paolo, Shashi Vandana, Pak Stephen C, Schedl Tim

Abstract excerpt

Calmodulin is an intracellular Ca2+ sensor that regulates numerous cellular processes through binding effector proteins and changing their activity. Humans have three calmodulin paralogs, CALM1, CALM2 and CALM3, encoding identical proteins, and missense variants in all three are included in the ACMG recommendations for reporting of secondary findings related to early onset sudden cardiac death caused by...

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Share to Arrhythmias, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caenorhabditis elegans

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Source

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Identifiers

PMID: 41467504
DOI: 10.1093/hmg/ddaf195
PMCID: PMC13103743

Genes

CALM1
CALM2
CALM3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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