IDS

iduronate 2-sulfatase
OMIM: 300823
PanelMode of inheritanceDetails
9 panels
R-numbers: R135
Signed-off version 1.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MPS II, Hunter disease (Mucopolysaccharidoses), MUCOPOLYSACCHARIDOSIS TYPE 2, Mucopolysaccharidosis II, 309900, Mucopolysaccharidosis Type II
R-numbers: R100
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900, 309900
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
MUCOPOLYSACCHARIDOSIS TYPE 2 309900
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 2
Green
in Hydrocephalus
R-numbers: R86
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
Mucopolysaccharidosis II 309900
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, biallelic mutations in females
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 2, MPS II, Hunter disease (Mucopolysaccharidoses), Mucopolysaccharidosis II, 309900, Mucopolysaccharidosis Type II
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II, 309900, MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2)
R-numbers: R276
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900