There has only been one case that was suspected to have cardiofaciocutaneous (CFC) syndrome with a (de novo) PTPN11 variant; however, multiple lentigines appeared later in the disease course, leading to a reevaluation of the initial diagnosis (Kleefstra et al., 2011). Since PTPN11 is Definitively associated with Noonan syndrome with multiple lentigines, this case should not be counted and therefore the PTPN11 association with CFC is Disputed. Of note, PTPN11 has also been classified as Definitive in association with Noonan syndrome (NS) and as Disputed in association with Costello syndrome. The ClinGen RASopathy Expert Panel found no evidence associating PTPN11 with NS-like disorder with loose anagen hair. This curation was approved by the ClinGen RASopathy Gene Curation Expert Panel on 5/30/18 (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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