Colorectal Cancer and Polyposis
Gene: STK11EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 9 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Single gene testing may be more appropriate if clinical features of JPS.
Sources: Expert list, Expert ReviewCreated: 25 Sep 2024, 10:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Peutz-Jeghers syndrome, MONDO:0008280
- Peutz-Jeghers syndrome, MIM#175200
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stk11 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: stk11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: STK11 was added gene: STK11 was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200 Review for gene: STK11 was set to GREEN