Adult solid tumours cancer susceptibility
Gene: STK11EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
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.
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Peutz Jeghers syndrome
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- Complete
- 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
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to STK11.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor. Gain of func
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for STK11 was changed to None
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for STK11 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Ellen McDonagh (Genomics England Curator)STK11 was added to Adult solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)STK11 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)STK11 was added to Adult solid tumourspanel. Sources: Expert list