PTEN and neurofibromatosis: The first also excluded what they ‘termed’ ‘syndromic’ genes including PTEN, CDH1 and TP53. However, it is unclear why neurofibromatosis 1, caused by pathogenic variants in the NF1 gene, was not also excluded as being syndromic, as it is far more recognisable from patient characteristics than even PTEN hamartoma syndrome.5