Palmoplantar keratodermas

Gene: STK11

Amber List (moderate evidence)

STK11 (serine/threonine kinase 11)
EnsemblGeneIds (GRCh38): ENSG00000118046
EnsemblGeneIds (GRCh37): ENSG00000118046
OMIM: 602216, Gene2Phenotype
STK11 is in 14 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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)

I don't know

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

History Filter Activity

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