Likely inborn error of metabolism - targeted testing not possible
Gene: STS
Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Created: 8 Oct 2019, 10:45 a.m. | Last Modified: 8 Oct 2019, 10:45 a.m.
Panel Version: 1.339
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Ichthyosis, X-linked, 308100
Publications
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:03 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Autosomal recessive congenital ichthyosis
Publications for gene: STS were set to 27604308; 1539590; 29672931
Publications for gene: STS were set to 27604308; 1539590; 29672931
Publications for gene: STS were set to 27604308
Gene: sts has been classified as Green List (High Evidence).
Source NHS GMS was added to STS. Source London North GLH was added to STS.
Sarah Leigh: Associated with relevant pheno
gene: STS was added gene: STS was added to Inborn errors of metabolism. Sources: Expert Review Amber 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 27604308 Phenotypes for gene: STS were set to X-linked ichthyosis (Other disorders in the metabolism of sterols); Autosomal recessive congenital ichthyosis