Palmoplantar keratodermasGene: ST14
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
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
Ichthyosis, congenital, autosomal recessive 11 (MIM#602400)
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
Publications for gene: ST14 were set to
Gene: st14 has been classified as Green List (High Evidence).
Tag for-review tag was added to gene: ST14.
Source London North GLH was added to ST14.
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