Segmental overgrowth disorders - Deep sequencing
Gene: PTENComment when marking as ready: PTEN rated as green based on expert review and is a confirmed DD gene for the Bannayan-Riley-Ruvalcaba (Bannayan-Zonana) syndrome.Created: 15 Nov 2016, 5:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome; Proteus-like syndrome; hemihypertrophy
28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PTEN was added to Regional overgrowth disorderspanel. Source: Other
PTEN was added to Regional overgrowth disorderspanel. Source: UKGTN
PTEN was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory
PTEN was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen
PTEN was added to Regional overgrowth disorderspanel. Sources: Expert Review
PTEN was created by rfoulger