Inherited polyposis and early onset colorectal cancer - germline testing
Gene: STK11EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels
7 reviews
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
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)
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)
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 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert List
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome 175200 to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11
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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: stk11 has been classified as Green List (High Evidence).
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