Genotype–phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality

Abstract

$\textbf{Background}$ Variants in the KIF1A have been associated with a wide range of phenotypes. Most variants are found in the protein’s motor domain. The clinical phenotype of KIF1A -associated disorders (KAND) correlates with the position and the type of variant. Missense variants in the motor domain are predominantly associated with severe phenotypes and often occur de novo. $\textbf{Methods}$ Show more