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Article

A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.

Journal of medical genetics - 1 Sept 2021

Al-Deri Noraldin, Okur Volkan, Ahimaz Priyanka, Milev Miroslav, Valivullah Zaheer, Hagen Jacob, Sheng Yufeng, Chung Wendy, Sacher Michael, Ganapathi Mythily

Abstract excerpt

BACKGROUND: Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membrane trafficking, was reported in two unrelated individuals with neurodevelopmental delay, post-infectious...

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Identifiers

PMID: 32843486
DOI: 10.1136/jmedgenet-2020-107016
PMCID: PMC7904957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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