Ichthyosis and erythrokeratoderma

Gene: STS

Green List (high evidence)

STS (steroid sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 11 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. Reviewer recommends Red, because this gene is associated with X-linked Ichthyosis and it is on the exclusion criteria list. However, it is being retained so that any X-linked cases that may arise can be identified.
Created: 8 Jun 2016, 10:15 a.m.

John McGrath (King's College London)

Red List (low evidence)

STS is not an ARCI gene - this is the steroid sulphatase gene relevant to X-linked ichthyosis, and definitely not an ARCI gene - so I would suggest removal from the list.
Created: 18 Nov 2015, 2:50 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, X-linked, 308100
OMIM
300747
Clinvar variants
Variants in STS
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: STS was added gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: STS were set to Ichthyosis, X-linked, 308100