IDS

iduronate 2-sulfatase
OMIM: 300823, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green IDS in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

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

Green IDS in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.123

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green IDS in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green IDS in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
  • MONDO:0010674
  • Hunter syndrome

Green IDS in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.11

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis II, MIM# 309900
    • MONDO:0010674
    • Hunter syndrome
    Tags
    • treatable

    Green IDS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green IDS in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

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

    Green IDS in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis II, MIM# 309900

    Green IDS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis II, 309900 (3)

    Green IDS in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

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

    Green IDS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis II

    Green IDS in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Mucopolysaccharidosis II MIM#309900
    • MONDO:0010674
    • Hunter syndrome

    Green IDS in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis II, 309900 (3)

    Green IDS in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
    Tags
    • treatable
    • metabolic

    Green IDS in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type 2 MONDO:0010674

    Green IDS in Prepair 500+


    Level 2: Screening
    Version 1.1

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis II, 309900 (3)