Inherited polyposis
Gene: PTEN
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cowden syndrome
Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Bowel polyps found in majority of patients with PTEN-related disordersCreated: 12 May 2017, 1:14 p.m.
Comment on list classification: DW CT - relevant in colon cancer.Created: 10 May 2016, 8:21 p.m.
Good evidence of a modest predisposition to colorectal cancerCreated: 8 Dec 2015, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal cancer; hamartomatous polyp; ganglioneuroma
Publications
Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN
Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: pten has been classified as Green List (High Evidence).
gene: PTEN was added gene: PTEN was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: PTEN was set to