Pigmentary skin disorders
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
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PEUTZ-JEGHERS SYNDROME; PJS
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.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: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PJS
- Peutz-Jeghers syndrome
- PEUTZ-JEGHERS SYNDROME
- OMIM
- 602216
- Clinvar variants
- Variants in STK11
- Penetrance
- None
- Publications
- 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
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes PJS; PEUTZ-JEGHERS SYNDROME for gene: STK11 Publications for gene STK11 were changed from to 9425897
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to STK11.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: STK11 was added gene: STK11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS 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