Corneal dystrophies

Gene: STS

Green List (high evidence)

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

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Syndromic, but cases have occurred where the corneal dystrophy was the presenting symptom - information supplied by Alice Davidson UCL.
Created: 1 Apr 2019, 2:30 p.m.

Publications

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
  • Wessex and West Midlands GLH
Phenotypes
  • Ichthyosis, X-linked
OMIM
300747
Clinvar variants
Variants in STS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: STS was added gene: STS was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,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) Publications for gene: STS were set to 1539590; 3169744; 9252398 Phenotypes for gene: STS were set to Ichthyosis, X-linked