Inherited polyposis and early onset colorectal cancer - germline testing
Gene: STK11
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
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
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.
Comment on list classification: Current diagnostic for Peutz-Jeghers which can present as bowel cancer.Created: 7 Feb 2016, 9:29 p.m.
Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome 175200 to Peutz-Jeghers syndrome, OMIM:175200; Peutz-Jeghers syndrome, MONDO:0008280
Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11
Mode of inheritance for gene: STK11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: stk11 has been classified as Green List (High Evidence).
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