There was only sufficient evidence in the literature for the association between MAP2K1 and Noonan syndrome with multiple lentigines (NSML) to be classified as Limited. The only published evidence supporting the association is a de novo case (Nishi et al., 2015). The MAP2K1 gene is also located in the Ras/MAPK pathway, which is associated with the NSML phenotype (Aoki et al., 2016; Rauen, 2013). Of note, MAP2K1 is classified as Definitive in association with cardiofaciocutaneous syndrome, as Limited in association with NS, and as Disputed in association with Costello syndrome. The ClinGen RASopathy Expert Panel found no evidence associating MAP2K1 with NS-like disorder with loose anagen hair. This curation was approved by the ClinGen RASopathy Gene Curation Expert Panel on 5/29/18 (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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