Inherited phaeochromocytoma and paraganglioma

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

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Treena Cranston (Oxford)

Red List (low evidence)

low evidence of germline mutations being causative of PCC/PGL
Created: 13 Oct 2015, 8:50 a.m.

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PTEN was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory