Ichthyosis and erythrokeratoderma
Gene: STS

STS (steroid sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 10 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)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Autosomal recessive congenital ichthyosis panel version 0

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.

Created: 8 Jun 2016, 10:15 a.m.

Panel version: Imported from Autosomal recessive congenital ichthyosis panel version 0.17

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.

Created: 18 Nov 2015, 2:50 p.m.

Panel version: Imported from Autosomal recessive congenital ichthyosis panel version 0

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, OMIM:308100

OMIM

300747

Clinvar variants

Variants in STS

Penetrance

None

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: STS were changed from Ichthyosis, X-linked, 308100 to Ichthyosis, X-linked, OMIM:308100

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

Ichthyosis and erythrokeratoderma Gene: STS