SNX5sorting nexin 5
Autism Reports / Total Reports2 / 3
Rare Variants / Common Variants2 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
De novo missense variants in the SNX5 gene have been identified in two ASD probands (Iossifov et al., 2014; Yuen et al., 2016). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified SNX5 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); SNX5 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis.
Reports related to SNX5 (3 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||The contribution of de novo coding mutations to autism spectrum disorder.||Iossifov I , et al. (2014)||Yes||-|
|2||Support||Genome-wide characteristics of de novo mutations in autism.||Yuen RK , et al. (2016)||Yes||-|
|3||Recent Recommendation||Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.||Coe BP , et al. (2018)||No||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1094A>G||p.Lys365Arg||missense_variant||De novo||-||Simplex||27525107||Yuen RK , et al. (2016)|
|c.1022C>T||p.Ala341Val||missense_variant||De novo||-||Simplex||25363768||Iossifov I , et al. (2014)|
No common variants reported.
CNVs associated with SNX5(1 CNVs)
|20p11.23||13||Deletion-Duplication||21 / 35|