GI tract tumours

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 52 panels

6 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13

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)

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, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • Expert Review
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Bannayan-Riley-Ruvalcaba syndrome 153480 AD
  • Cowden syndrome 1 158350
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to PTEN. Source NHS GMS was added to PTEN. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PTEN were set to PTEN hamartoma tumor syndrome; Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PTEN were set to 20301661

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to GI tractpanel. Source: Expert Review

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTEN was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTEN was created by ellenmcdonagh