Table 6.

Diseases caused by mutations in retromer

Component	Gene (locus)	Disease1	OMIM2	Inheritance	Mutation types	Key references
VPS26A	VPS26A (10q22.1)	Atypical parkinsonism	None3	Unknown	Missense, nonsense	Gustavsson et al., 2015
VPS35	VPS35 (16q11.2)	Parkinson disease-17 (PARK17)	614203	Autosomal dominant with incomplete penetrance	Missense	Vilarino-Guell et al., 2011, Zimprich et al., 2011
SNX27	SNX27 (1q21.3)	Infantile myoclonic epilepsy and neurodegeneration	None4	Autosomal recessive	Frameshift	Damseh et al., 2015

^1.Disease acronyms are given in parentheses.

^2.Online Mendelian Inheritance in Man (https://www.omim.org/).

^3.No entry number has been assigned to the disease. The entry number for the gene is 605506.

^4.No entry number has been assigned to the disease. The entry number for the gene is 611541.