1. Genes and Genomic Entities
  2. IDUA

IDUA

iduronidase, alpha-L-
OMIM: 252800, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green IDUA in Mucopolysaccharideosis, Gaucher, Fabry

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis Ih, 607014
  • Mucopolysaccharidosis type 1H
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis type 1H/S
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis, Type I
  • Hurler syndrome
  • Hurler-Scheie syndrome
  • Scheie syndrome
Red IDUA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Amber IDUA in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Mucopolysaccharidosis Ih, 607014
  • Hurler syndrome, MPS I
Green IDUA in Lysosomal storage disorder


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis Ih OMIM:607014
  • Hurler syndrome MONDO:0011758
  • Mucopolysaccharidosis Is OMIM:607016
  • Scheie syndrome MONDO:0011760
  • Mucopolysaccharidosis Ih/s OMIM:607015
  • Hurler-Scheie syndromeMONDO:0011759
Green IDUA in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Mucopolysaccharidosis Ih 607014
    • Mucopolysaccharidosis Is 607016
    • Mucopolysaccharidosis Ih/s 607015
    Green IDUA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis Ih, 607014
    • Mucopolysaccharidosis type 1H
    • Mucopolysaccharidosis type 1S
    • Mucopolysaccharidosis Is, 607016
    • Mucopolysaccharidosis type 1H/S
    • Mucopolysaccharidosis Ih/s, 607015
    • Mucopolysaccharidosis, Type I
    • Hurler syndrome
    • Hurler-Scheie syndrome
    • Scheie syndrome
    Green IDUA in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hurler syndrome
    • Mucopolysaccharidosis type 1H/S
    • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
    • Scheie syndrome
    • Hurler-Scheie syndrome
    • Mucopolysaccharidosis type 1S
    • Mucopolysaccharidosis type 1H
    • Mucopolysaccharidosis Ih/s, 607015
    • Mucopolysaccharidosis, Type I
    • Mucopolysaccharidosis Is, 607016
    • Mucopolysaccharidosis Ih, 607014
    Green IDUA in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 1H
    • MUCOPOLYSACCHARIDOSIS TYPE 1H/S
    • MUCOPOLYSACCHARIDOSIS TYPE 1S
    Green IDUA in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.179
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • 607016
    • Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
    • 607014
    Green IDUA in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015
    • MUCOPOLYSACCHARIDOSIS TYPE 1S 607016
    • MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
    Green IDUA in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.531
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015
    • MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)
    Green IDUA in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • Expert Review Green
    Phenotypes
    • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis type 1H/S
    • Mucopolysaccharidosis type 1S
    • Mucopolysaccharidosis Is, 607016
    • Hurler syndrome
    • Mucopolysaccharidosis Ih/s, 607015
    • Scheie syndrome
    • Mucopolysaccharidosis, Type I
    • Hurler-Scheie syndrome
    • Mucopolysaccharidosis Ih, 607014
    • Mucopolysaccharidosis type 1H
    Red IDUA in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green IDUA in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis Ih/s, 607015
    • Mucopolysaccharidosis Is, 607016
    • Mucopolysaccharidosis Ih, 607014
    Green IDUA in Mucopolysaccharidosis type IH or S


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green