Gastrointestinal neuromuscular disorders

Gene: PTEN

Amber List (moderate evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 53 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Gene added by expert reviewer, who recommended this should be amber as this is both a early onset IBD gene and it is a psudobstruction gene. It is a green gene on the version 1.0 Infantile enterocolitis & monogenic inflammatory bowel disease gene panel.
Created: 19 Oct 2016, 1:23 p.m.

Neil shah (GOSH)

Details

Sources
  • Expert Review Amber
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome 153480
OMIM
601728
Clinvar variants
Variants in PTEN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTEN were set to 21258937;19884655

19 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTEN were set to 21258937

19 Oct 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PTEN were set to Bannayan-Riley-Ruvalcaba syndrome 153480

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Oct 2016, Gel status: 0

Created

Neil shah (GOSH)

PTEN was created by neil shah

12 Oct 2016, Gel status: 0

Added New Source

Neil shah (GOSH)

PTEN was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Expert Review