Inherited polyposis and early onset colorectal cancer - germline testing
Gene: PTENComment on phenotypes: This gene is also associated with {Glioma susceptibility 2} (MIM# 613028); {Meningioma} (MIM# 607174); Macrocephaly/autism syndrome (MIM# 605309); Prostate cancer, somatic (MIM# 176807)Created: 8 Mar 2021, 10:49 a.m. | Last Modified: 8 Mar 2021, 10:49 a.m.
Panel Version: 1.18
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
Phenotypes for gene: PTEN were changed from Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome to Cowden syndrome 1, OMIM:158350; Lhermitte-Duclos syndrome, OMIM:158350; Cowden syndrome 1, MONDO:0008021
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