Palmoplantar keratodermas
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
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 1.18
Zornitza Stark (Australian Genomics)
Peutz-Jeghers syndrome is characterised by hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips. These findings don't really overlap with the clinical indication for this panel.Created: 19 Aug 2020, 6:18 a.m. | Last Modified: 19 Aug 2020, 6:18 a.m.
Panel Version: 1.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Peutz-Jeghers syndrome (MIM#175200)
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:STK11; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.9
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Palmoplantar keratodermas
- Childhood solid tumours
- Peutz Jeghers Syndrome
- Inherited ovarian cancer (without breast cancer)
- Pigmentary skin disorders
- Inherited pancreatic cancer
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Familial breast cancer
- Inherited polyposis and early onset colorectal cancer - germline testing
- GI tract tumours
History Filter Activity
29 Jul 2022, Gel status: 1
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to STK11. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: STK11 was added gene: STK11 was added to Palmoplantar keratodermas. Sources: Expert Review Amber Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown