Genomics England

steroid sulfatase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Corneal dystrophy R-numbers: R262 Signed-off version 4.11	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, ichthyosis, MONDO:0019269
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 4.16	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 Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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, ichthyosis, MONDO:0019269
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 4.16	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Ichthyosis, X-linked, OMIM:308100, ichthyosis, MONDO:0019269