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  3. STS
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: STS

Amber List (moderate evidence)
STS (steroid sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis.
Created: 18 Aug 2020, 2:13 a.m. | Last Modified: 18 Aug 2020, 2:13 a.m.
Panel Version: 0.75
Created: 18 Aug 2020, 2:13 a.m.
Last Modified: 18 Aug 2020, 2:13 a.m.
Panel version: 0.75

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 29672931;
- cohort of 35 Italian patients
- 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are
- 27x with complete STS gene deletion
- 1x partial deletion leading to loss of exon 7
- 7x (including 3 pairs of siblings) had missense variants

* STS patients usually present with brownish thickened scales
Sources: Literature
Created: 17 Aug 2020, 7:04 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ichthyosis, X-linked (MIM#308100)

Publications

Created: 17 Aug 2020, 7:04 a.m.

Panel version: 0.56

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, X-linked (MIM#308100)
OMIM
300747
Clinvar variants
Variants in STS
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sts has been classified as Amber List (Moderate Evidence).

18 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sts has been classified as Amber List (Moderate Evidence).

18 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sts has been classified as Amber List (Moderate Evidence).

17 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: STS was added gene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: STS were set to PMID: 29672931 Phenotypes for gene: STS were set to Ichthyosis, X-linked (MIM#308100) Penetrance for gene: STS were set to unknown Review for gene: STS was set to AMBER