Peutz-Jeghers syndrome

Gene: STK11

Green List (high evidence)

STK11 (serine/threonine kinase 11)
EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 9 variants reported.
Created: 11 Apr 2017, 1:12 p.m.
Comment on phenotypes: Gastrointestinal and Colorectal Cancer risk. Also a confirmed DDG for Pancreatic cancer 260350
Created: 11 Apr 2017, 1:11 p.m.

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for this particular phenotype sourced from OMIM.
Created: 8 Jan 2016, 10:38 a.m.

History Filter Activity

11 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 Apr 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for STK11 were set to Peutz-Jeghers syndrome 175200

3 Jun 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

STK11 was added to Peutz-Jeghers syndromepanel. Source: Emory Genetics Laboratory STK11 was added to Peutz-Jeghers syndromepanel. Source: Expert Review Green Model of inheritance for gene STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STK11 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

STK11 was added to Peutz-Jeghers syndromepanel. Sources: Eligibility statement prior genetic testing,Other