This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: STK11
STK11 (serine/threonine kinase 11)
EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels
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 260350Created: 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Other
- Phenotypes
-
- Peutz-Jeghers syndrome 175200
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Peutz Jeghers Syndrome
- Inherited ovarian cancer (without breast cancer)
- Pigmentary skin disorders
- Inherited pancreatic cancer
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Familial breast cancer
- Palmoplantar keratodermas
- Inherited polyposis and early onset colorectal cancer - germline testing
- GI tract tumours
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