Miscellaneous Metabolic Disorders
Gene: STSEnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. CNVs common.
Sources: Expert listCreated: 2 Feb 2021, 9:29 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ichthyosis, X-linked 308100; Sterol metabolism disorder
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Ichthyosis, X-linked 308100
- Sterol metabolism disorder
- Tags
- OMIM
- 300747
- Clinvar variants
- Variants in STS
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sts has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sts has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: STS.
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 Miscellaneous Metabolic Disorders. 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 308100; Sterol metabolism disorder Review for gene: STS was set to GREEN