Corneal Dystrophy

Gene: STS

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Corneal opacities are part of the phenotype.
Sources: Expert list
Created: 27 Jul 2020, 8:56 a.m.

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

Phenotypes
Ichthyosis, X-linked, MIM# 308100

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, X-linked, MIM# 308100
OMIM
300747
Clinvar variants
Variants in STS
Penetrance
None
Panels with this gene

History Filter Activity

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sts has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sts has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STS was added gene: STS was added to Corneal Dystrophy. Sources: Expert list Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked, MIM# 308100 Review for gene: STS was set to GREEN