A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
Noraldin Al-DeriVolkan OkurPriyanka AhimazMiroslav MilevZaheer ValivullahJacob HagenYufeng ShengWendy ChungMichael SacherMythily GanapathiPublished in: Journal of medical genetics (2020)
Our data fill in a gap in the knowledge of TRAPP architecture with TRAPPC2L interacting with TRAPPC6a, positioning it as a putative adaptor for other TRAPP subunits. Collectively, our findings support the pathogenicity of the TRAPPC2L p.(Ala2Gly) variant.