Genomics England
GMS Panels
Panels
Genes and Entities

STS

steroid sulfatase
OMIM: 300747
PanelMode of inheritanceDetails
5 panels
Green
in Corneal dystrophy
R-numbers: R262
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ichthyosis, X-linked
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ICHTHYOSIS, X-LINKED 308100
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Ichthyosis, X-linked, OMIM:308100
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked ichthyosis (Other disorders in the metabolism of sterols), Autosomal recessive congenital ichthyosis
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X linked ichthyosis