Clinical Domain Working Groups
PTEN Variant Curation Expert PanelMembership Documents
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.
Expert Panel Status
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2Curation Activity Procedures - September 10, 2019
ClinGen PTEN Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - August 17, 2018 Archived Document
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.