Ichthyosis and erythrokeratoderma

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 1/4 sources. Reviewer suggested this gene and recommended Green. It is associated with congenital, autosomal recessive Ichthyosis 11 with hypotrichosis (OMIM 602400), which overlaps with autosomal recessive congenital ichthyosis. Numerous variants reported.
Created: 8 Jun 2016, 10:43 a.m.

John McGrath (King's College London)

Green List (high evidence)

ST14 causes autosomal recessive ichthyosis with hypotrichosis - there is a clinical overlap with ARCI bit the additional hair features are integral - so some overlap with ARCI - maybe level 2 evidence. For ST14, again the skin is definitely ARCI with the additional finding of hypotrichosis - although it is quite common for all types of ARCI to have transient hair loss in early life because of the redness and systemic inflammation - but for ST14 cases the hypotrichosis persists and worsens slightly after the redness has gone.
Created: 18 Nov 2015, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ARCI with hypotrichosis; ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
OMIM
606797
Clinvar variants
Variants in ST14
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ST14 was added gene: ST14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400