Multiple endocrine tumours

Gene: PTEN

Red List (low evidence)

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

3 reviews

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Red List (low evidence)

I cannot see that PTEN mutations would explain this phenotype
Created: 20 Oct 2015, 10:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Endocrine Cancer
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PTEN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PTEN was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory