Only one study to date has identified variants in BRAF in patients diagnosed with suspected Costello syndrome. However, due to lack of further evidence for impact of these variants as well as variable expressivity, age of ascertainment, and outdated clinical assessments of affected individuals, these cases were not scored and, therefore, this gene-disease association is classified as Disputed. Furthermore, the HRAS gene is believed to be the only gene definitively associated with Costello syndrome (Aoki et al., 2005; Estep, Tidyman, Teitell, Cotter, & Rauen, 2006; Gripp et al., 2006; Kerr et al., 2006; Zampino et al., 2007). Of note, BRAF has also been classified as definitive in association with cardiofaciocutaneous syndrome, moderate in association with Noonan syndrome (NS), and limited in association with NS with multiple lentigines. The ClinGen RASopathy Expert Panel found no evidence associating BRAF with NS with loose anagen hair. 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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