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.
|Charis Eng, MD, PhD||Executive Leadership|
|Madhuri Hegde, PhD, FACMG||Executive Leadership|
|Jessica Mester, MS, CGC||Coordinator|
|Helio Costa, PhD||Member|
|Felicia Hernandez, PhD||Member|
|Kathleen Hruska, PhD, FACMG||Member|
|Robert Huether, PhD||Member|
|Rachid Karam, MD, PhD||Member|
|Katherine Lachlan, MBChB, MRCPCH||Member|
|Joanne Ngeow, BMedSci, MBBS, MRCP, FAMS||Member|
|Melody Perpich, MS, CGC||Member|
|Tina Pesaran, MA, MS, CGC||Member|
|Kaitlin Sesock, MS, CGC||Member|
|Liying Zhang, MD, PhD||Member|
Please contact a coordinator if you have questions.
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.