Palmoplantar keratodermas

Gene: ST14

Green List (high evidence)

ST14 (suppression of tumorigenicity 14)
EnsemblGeneIds (GRCh38): ENSG00000149418
EnsemblGeneIds (GRCh37): ENSG00000149418
OMIM: 606797, Gene2Phenotype
ST14 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: There is not enough evidence for this gene to be rated GREEN on this panel, so it should be changed to RED at the next major review.
Created: 18 Jan 2021, 5:46 p.m. | Last Modified: 18 Jan 2021, 5:46 p.m.
Panel Version: 1.5
PMIDs 17273967 and 18445049 stated that palmoplantar keratoderma was not seen in the families where they found the homozygous ST14 variants. No mention of palmoplantar keratoderma was included in the phenotypes mentioned in PMIDs 18843291 & 29611532 who also reported homozygous ST14 variants in two families with autosomal recessive ichthyosis with hypotrichosis syndrome.
Created: 18 Jan 2021, 5:43 p.m. | Last Modified: 18 Jan 2021, 5:43 p.m.
Panel Version: 1.4

Publications

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Ichthyosis gene, cannot find reports of palmoplantar keratoderma
Created: 19 Aug 2020, 6:19 a.m. | Last Modified: 19 Aug 2020, 6:19 a.m.
Panel Version: 1.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 11 (MIM#602400)

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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: ST14; 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: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
for-review
OMIM
606797
Clinvar variants
Variants in ST14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ST14 were set to

18 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: st14 has been classified as Green List (High Evidence).

18 Jan 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: ST14.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ST14.

28 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ST14 was added gene: ST14 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Autosomal recessive congenital ichthyosis