Palmoplantar keratodermas
Gene: STSEnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 11 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: STS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- X linked ichthyosis
- OMIM
- 300747
- Clinvar variants
- Variants in STS
- Penetrance
- None
- Panels with this gene
-
- Corneal dystrophy
- Autosomal recessive congenital ichthyosis
- Proteinuric renal disease
- Likely inborn error of metabolism
- Ichthyosis and erythrokeratoderma
- Palmoplantar keratodermas
- DDG2P
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to STS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: STS was added gene: STS was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS 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 X linked ichthyosis