Autosomal recessive congenital ichthyosis
Gene: STSEnsemblGeneIds (GRCh38): ENSG00000101846
EnsemblGeneIds (GRCh37): ENSG00000101846
OMIM: 300747, Gene2Phenotype
STS is in 10 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Found in 2/4 sources. Reviewer recommends Red, because this gene is associated with X-linked Ichthyosis and it is on the exclusion criteria list. However, it is being retained so that any X-linked cases that may arise can be identified.Created: 8 Jun 2016, 10:15 a.m.
John McGrath (King's College London)
STS is not an ARCI gene - this is the steroid sulphatase gene relevant to X-linked ichthyosis, and definitely not an ARCI gene - so I would suggest removal from the list.Created: 18 Nov 2015, 2:50 p.m.
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
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Ichthyosis, X-linked, 308100
- OMIM
- 300747
- Clinvar variants
- Variants in STS
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for STS was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STS were set to Ichthyosis, X-linked, 308100
Added New Source
Ellen McDonagh (Genomics England Curator)STS was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)STS was added to Autosomal recessive congenital ichthyosispanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)STS was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)STS was created by ellenmcdonagh