Inherited polyposis

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 50 panels

6 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cowden syndrome

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Bowel polyps found in majority of patients with PTEN-related disorders
Created: 12 May 2017, 1:14 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: DW CT - relevant in colon cancer.
Created: 10 May 2016, 8:21 p.m.

Ian Frayling (Cardiff University)

Green List (high evidence)

Good evidence of a modest predisposition to colorectal cancer
Created: 8 Dec 2015, 2:06 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer; hamartomatous polyp; ganglioneuroma

Publications

  • Eng, C. PTEN Hamartoma Tumor Syndrome (PHTS). GeneReviews® [Internet]. http://www.ncbi.nlm.nih.gov/books/NBK1488/

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480 AD
  • Cowden syndrome 1 158350
  • PTEN hamartoma tumor syndrome
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pten has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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