Endocrine neoplasms

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

Ivone Leong (Genomics England Curator)

I don't know

This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene has been given an Amber rating and will reviewed by GMS before Green status is given.
Sources: Expert list
Created: 11 Feb 2021, 11:28 a.m. | Last Modified: 11 Feb 2021, 11:31 a.m.
Panel Version: 1.14

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Tags
Q2_21_rating Q2_21_phenotype Q2_21_NHS_review
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PTEN. Tag Q2_21_NHS_review tag was added to gene: PTEN.

11 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Feb 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PTEN was added gene: PTEN was added to Endocrine neoplasms. Sources: Expert list Q2_21_phenotype tags were added to gene: PTEN. Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: PTEN was set to AMBER