PanelApp
  1. Genes and Genomic Entities
  2. IDUA

IDUA

iduronidase, alpha-L-
OMIM: 252800, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green IDUA in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.72

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
  • 607016

Amber IDUA in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hurler syndrome, MPS 1

Green IDUA in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green IDUA in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis Ih (MIM#607014)
  • Mucopolysaccharidosis Ih/s (MIM#607015)
  • Mucopolysaccharidosis Is (MIM#6070)
  • Mucopolysaccharidosis type 1, MONDO:0001586

Red IDUA in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • congenital myopathy MONDO:0019952

    Green IDUA in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.23

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis Ih, MIM# 607014
    • Mucopolysaccharidosis Ih/s, MIM# 607015
    • Mucopolysaccharidosis Is, MIM# 607016
    • Mucopolysaccharidosis type 1, MONDO:0001586

    Green IDUA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • mucopolysaccharidosis type 1 MONDO:0001586

    Green IDUA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

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

    Green IDUA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis Ih, 607014 (3)

    Green IDUA in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Scheie syndrome
    • Hurler-Scheie syndrome
    • Mucopolysaccharidosis type 1H
    • Mucopolysaccharidosis Ih/s, 607015
    • Mucopolysaccharidosis Ih, 607014
    • Mucopolysaccharidosis type 1S
    • Hurler syndrome
    • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
    • Mucopolysaccharidosis, Type I
    • Mucopolysaccharidosis type 1H/S
    • Mucopolysaccharidosis Is, 607016

    Green IDUA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis Ih

    Green IDUA in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis Ih (MIM#607014)
    • Mucopolysaccharidosis Ih/s (MIM#607015)
    • Mucopolysaccharidosis Is (MIM#6070)
    • Mucopolysaccharidosis type 1, MONDO:0001586

    Green IDUA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014

    Green IDUA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Mucopolysaccharidosis type 1, MONDO:0001586
    Tags
    • treatable
    • metabolic

    Green IDUA in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type 1 MONDO:0001586

    Green IDUA in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis Ih, MIM#607014