GI tract tumours
Gene: STK11EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels
7 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:27 p.m. | Last Modified: 31 Jul 2019, 12:27 p.m.
Panel Version: 1.13
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Ian Frayling (Cardiff University)
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.
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Gastrointestinal and Colorectal Cancer High RiskCreated: 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 260350Created: 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.
Ellen McDonagh (Genomics England Curator)
Mode of inheritance for this particular phenotype sourced from OMIM.Created: 8 Jan 2016, 10:38 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert List
- Eligibility statement prior genetic testing
- Other
- Emory Genetics Laboratory
- Expert Review Green
- Phenotypes
-
- Peutz-Jeghers syndrome 175200
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Familial breast cancer
- Palmoplantar keratodermas
- GI tract tumours
- Multiple monogenic benign skin tumours
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Peutz Jeghers Syndrome
- Inherited pancreatic cancer
- Inherited ovarian cancer (without breast cancer)
- Inherited polyposis and early onset colorectal cancer - germline testing
- Pigmentary skin disorders
History Filter Activity
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to STK11. Source NHS GMS was added to STK11. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STK11 were set to Peutz-Jeghers syndrome 175200
Set publications
Sarah Leigh (Genomics England Curator)Publications for STK11 were set to 20581245
Added New Source
Ellen McDonagh (Genomics England Curator)STK11 was added to GI tractpanel. Source: Eligibility statement prior genetic testing STK11 was added to GI tractpanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)STK11 was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)STK11 was created by ellenmcdonagh