IDS

iduronate 2-sulfatase
OMIM: 300823, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green IDS in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
  • MUCOPOLYSACCHARIDOSIS TYPE 2

Red IDS in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review Not set
Sources
  • Emory Genetics Laboratory

Green IDS in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.15

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis II 309900

Green IDS in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, OMIM:309900

Green IDS in Lysosomal storage disorder


Version 1.74
Latest signed off version: v1.2 (18 Feb 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis II OMIM:309900
  • mucopolysaccharidosis type 2 MONDO:0010674

Green IDS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.126
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mucopolysaccharidosis II 309900

    Green IDS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • MPS II, Hunter disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis II, 309900
    • Mucopolysaccharidosis Type II
    • MUCOPOLYSACCHARIDOSIS TYPE 2

    Green IDS in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 2
    • MPS II, Hunter disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis II, 309900
    • Mucopolysaccharidosis Type II

    Green IDS in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 2

    Green IDS in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
    • 309900

    Green IDS in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 2 309900

    Green IDS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mucopolysaccharidosis II, 309900
    • MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2)

    Green IDS in Cardiomyopathies - including childhood onset


    Version 1.54
    Latest signed off version: v1.4 (19 Feb 2020)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • Expert Review Green
    Phenotypes
    • MPS II, Hunter disease (Mucopolysaccharidoses)
    • MUCOPOLYSACCHARIDOSIS TYPE 2
    • Mucopolysaccharidosis II, 309900
    • Mucopolysaccharidosis Type II

    Red IDS in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green IDS in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis II, 309900