Segmental overgrowth disorders

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 51 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: PTEN rated as green based on expert review and is a confirmed DD gene for the Bannayan-Riley-Ruvalcaba (Bannayan-Zonana) syndrome.
Created: 15 Nov 2016, 5:08 p.m.

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

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

Phenotypes
Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; PHTS; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; megalencephaly; macrocephaly; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Cowden syndrome; Proteus-like syndrome; hemihypertrophy

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome, 153480
  • BRRS
  • Bannayan-Riley-Ruvalcaba syndrome,153480
  • PHTS
  • PTEN Hamartoma Tumor Syndrome
  • Macrocephaly and Overgrowth Syndromes
  • megalencephaly
  • macrocephaly
  • Bannayan Riley Ruvalcalba Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
  • Cowden syndrome
  • Proteus-like syndrome
  • hemihypertrophy
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

28 November 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

15 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 Nov 2016, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

7 Nov 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Regional overgrowth disorderspanel. Source: Other

7 Nov 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Regional overgrowth disorderspanel. Source: UKGTN

7 Nov 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Regional overgrowth disorderspanel. Source: Emory Genetics Laboratory

7 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Regional overgrowth disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PTEN was added to Regional overgrowth disorderspanel. Sources: Expert Review

7 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PTEN was created by rfoulger