Inherited renal cancer

Gene: PTEN

Amber List (moderate evidence)

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

6 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: PTEN has been changed from red to amber based on a comment by Shazia Mahamdallie (email communication, October 11th 2019) who notes that "amber status might be more appropriate, i.e. evidence of association but not significant".
Created: 14 Oct 2019, 12:52 p.m. | Last Modified: 14 Oct 2019, 12:52 p.m.
Panel Version: 0.41

Ivone Leong (Genomics England Curator)

Comment on list classification: PTEN has been demoted from green to red as it was decided that it does not contribute significantly to inherited renal cancer susceptibility.
Created: 12 Sep 2019, 12:56 p.m. | Last Modified: 12 Sep 2019, 12:56 p.m.
Panel Version: 0.39
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, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38

Lara Hawkes (Genomics England)

Green List (high evidence)

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Sources: UKGTN
Created: 28 Dec 2018, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.
Created: 26 Jul 2017, 12:15 p.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Breast; Colorectal; Endometrial Carcinoma; Renal

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert List
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

14 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pten has been classified as Amber List (Moderate Evidence).

12 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pten has been classified as Red List (Low Evidence).

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

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to PTEN. Rating Changed from No List (delete) to Red List (low evidence)

28 Dec 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance

Rachel Robinson (Leeds Genetics Laboratory)

gene: PTEN was added gene: PTEN was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic