Sarcoma susceptibility

Gene: PTEN

Amber List (moderate evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 55 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: PTEN; Phenotype submitted: Paraganglioma. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leiomyosarcoma, MONDO:0005058
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058

12 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PTEN were set to

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PTEN.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PTEN was added gene: PTEN was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: PTEN was set to Phenotypes for gene: PTEN were set to Paraganglioma