KCNS3potassium voltage-gated channel modifier subfamily S member 3
Autism Reports / Total Reports2 / 3
Rare Variants / Common Variants2 / 0
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
De novo likely-gene disruptive (LGD) variants in the KCNS3 gene have been identified in two ASD probands (De Rubeis et al., 2014; Krumm et al., 2015). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified KCNS3 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1); KCNS3 was similarly identified as a gene with an excess of de novo LGD variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).
The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins and modulate the activity of specific functional alpha subunits.
Reports related to KCNS3 (3 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Synaptic, transcriptional and chromatin genes disrupted in autism.||De Rubeis S , et al. (2014)||Yes||-|
|2||Support||Excess of rare, inherited truncating mutations in autism.||Krumm N , et al. (2015)||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.1239C>A||p.Tyr413Ter||stop_gained||De novo||-||Simplex||25961944||Krumm N , et al. (2015)|
|c.1263del||p.Asp422ThrfsTer37||frameshift_variant||De novo||-||-||25363760||De Rubeis S , et al. (2014)|
No common variants reported.
CNVs associated with KCNS3(1 CNVs)
|2p24.2||6||Deletion-Duplication||11 / 57|