STS

steroid sulfatase
OMIM: 300747
PanelMode of inheritanceDetails
5 panels
R-numbers: R262
Signed-off version 1.2
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 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
ICHTHYOSIS, X-LINKED 308100
R-numbers: R165
Signed-off version 1.3
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, 308100
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
R-numbers: R166
Signed-off version 1.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X linked ichthyosis