Two publications have identified patients with typical features of cardiofaciocutaneous syndrome (CFC) and the p.Ser2Gly variant occuring in de novo cases and cases of unknown variant origin (Lee 2011, Komatsuzaki 2015). However, all of the individuals identified were also described to have loose anagen hair (LAH); therefore, these cases should all be considered SHOC2-Noonan syndrome-like disorder with LAH (NS/LAH) patients. The p.Ser2Gly variant has been a recurrently identified variant in cases with NS/LAH, and no other variants have been identified in these patients (Cordeddu et al., 2009; Ekvall et al., 2011; Komatsuzaki et al., 2010). In summary, this association is Disputed. Of note, SHOC2 is classified as Definitive in association with NS/LAH and as Disputed in association with NS and Costello syndrome. The ClinGen RASopathy Expert Panel found no evidence associating SHOC2 with NS with multiple lentigines. This curation was approved by the ClinGen RASopathy Gene Curation Expert Panel on 6/1/18 (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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