There has only been one study implicating RASA2 alteration with Noonan syndrome (NS) (Chen 2014). Three individuals with functionally characterized RASA2 variants of unknown origin and a Noonan syndrome phenotype have been identified (Chen et al., 2014). The RASA2 gene is also associated with the Ras/MAPK pathway which is associated with the NS phenotype (Aoki et al., 2016; Rauen, 2013). The ClinGen RASopathy Expert Panel found no evidence associating RASA2 with cardiofaciocutaneous syndrome, Costello syndrome, NS with loose anagen hair, or NS with multiple lentigines. In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This curation was approved by the ClinGen RASopathy Gene Curation Expert Panel on 7/24/18 (SOP Version 5).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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