Aliases: NS9, SOS-2
Chromosome No: 14
Chromosome Band: 14q21.3
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 6
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 3
Evidence score: 2
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Relevance to Autism
SOS2 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in two independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report. A de novo missense variant in this gene had previously been identified in an ASD proband from the Autism Sequencing Consortium (Satterstrom et al., 2020).
Molecular Function
This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Heterozygous mutations in the SOS2 gene are associated with Noonan syndrome-9 (NS9; OMIM 616559), an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects.
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