Clinical Domain Working Groups

Pathogenic germline variants in PTEN are indicative of PTEN Hamartoma Tumor syndrome (PHTS, MIM+601728), an umbrella term used to describe any individual with a germline pathogenic PTEN variant regardless of clinical presentation. PHTS causes increased risk for benign and malignant tumors as well as neurodevelopmental disorders, and includes individuals with Cowden syndrome (MIM#158350), Bannayan-Riley-Ruvalcaba syndrome (MIM#153480), and other phenotypes such as Macrocephaly/Autism syndrome (#605309) found to have a germline pathogenic PTEN variant.  This expert panel will provide assessment regarding the pathogenicity of variants in PTEN with respect to a PHTS phenotype.