Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.

doi:10.1016/j.gim.2026.101685

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Article

Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2026

Bereshneh Ali H, Wilson Kirkland A, Pan Xueyang, Hannan Shabab B, Cooper Megan A, Diaz Jullianne, Leon Eyby, Moses Tiana M, Azamian Mahshid S, Scott Daryl A, Billie Au Ping Yee, Appendino Juan Pablo, Scheffer Ingrid E, Kaspi Antony, Bahlo Melanie, Hildebrand Michael S, Morgan Angela T, Ekure Ekanem, Shulman Joshua M, Hildebrandt Friedhelm, Posey Jennifer E, Kruszka Paul, Vilain Eric, Yamamoto Shinya, Kanca Oguz, Berger Seth, Bellen Hugo J

Abstract excerpt

PURPOSE: RAPGEF2 encodes a guanine nucleotide exchange factor (GEF) that activates small GTPases and has not been linked to a Mendelian disorder. RAPGEF2 is highly intolerant to loss-of-function variants. We report 5 de novo heterozygous variants in RAPGEF2 in unrelated individuals with developmental delay, attention deficit hyperactivity disorder, epilepsy, dysmorphic features, or other manifestations. We used a...

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Identifiers

PMID: 41556274
DOI: 10.1016/j.gim.2026.101685
PMCID: PMC13060567

Genes

RAPGEF2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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