Corneal dystrophy
Gene: STS
STS (steroid sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 11 panels
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
-
- Corneal dystrophy
- Autosomal recessive congenital ichthyosis
- Likely inborn error of metabolism
- Intellectual disability
- Proteinuric renal disease
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
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