There is a definitive association between alteration of the MAP2K1 gene and cardiofaciocutaneous syndrome (CFC). The maximum amount of scorable genetic evidence has been published showing de novo as well as non-de novo variants occur in MAP2K1 in patients with CFC (Cizmarova et al., 2016; Dentici et al., 2009; Gripp et al., 2007; Rodriguez-Viciana, Tetsu, et al., 2006). The MAP2K1 gene is also located in the Ras/MAPK pathway, which is associated with the CFC phenotype (Aoki et al., 2016; Rauen, 2013). Of note, MAP2K1 is classified as Limited in association with Noonan syndrome (NS) and NS with multiple lentigines 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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