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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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #175200) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:34 a.m. | Last Modified: 29 Dec 2025, 11:34 a.m.
Panel Version: 1.2
STK11 has been added to the panel for R212 Peutz Jeghers Syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:20 p.m. | Last Modified: 30 Jun 2023, 3:20 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Peutz-Jeghers syndrome, OMIM:175200
- Peutz-Jeghers syndrome, MONDO:0008280
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- None
- 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
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: STK11 was added gene: STK11 was added to Peutz Jeghers Syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown