Ichthyosis and erythrokeratodermaGene: 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.
gene: STS was added gene: STS was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green 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) Phenotypes for gene: STS were set to Ichthyosis, X-linked, 308100