Inherited polyposis

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

7 reviews

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Confirmed with Clare Turnbull that loss-of-function variants should be reported in this gene.
Created: 16 Mar 2018, 9:48 a.m.

Ian Frayling (Cardiff University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

  • Beggs, A. D., Latchford, A. R., Vasen, H. F. A., et al. Peutz–Jeghers syndrome: a systematic review and recommendations for management. Gut 2010
  • 59: 975-986.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Gain of function.
Created: 5 Jul 2017, 12:19 p.m.

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

Phenotypes
Peutz Jeghers syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Gastrointestinal and Colorectal Cancer High Risk
Created: 12 May 2017, 12:44 p.m.
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 Thomas (Genomics England Curator)

Comment on list classification: Current diagnostic for Peutz-Jeghers which can present as bowel cancer.
Created: 7 Feb 2016, 9:29 p.m.

History Filter Activity

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: stk11 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: STK11 was added gene: STK11 was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: STK11 was set to