Autosomal recessive congenital ichthyosis
Gene: STS
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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.
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.
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)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for STS were set to Ichthyosis, X-linked, 308100
STS was added to Autosomal recessive congenital ichthyosispanel. Source: Radboud University Medical Center, Nijmegen
STS was added to Autosomal recessive congenital ichthyosispanel. Source: UKGTN
STS was added to Autosomal recessive congenital ichthyosispanel. Sources: Eligibility statement prior genetic testing
STS was created by ellenmcdonagh