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Cardiomyopathies - including childhood onset

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

James Eden (Manchester)

Green List (high evidence)

Gene is associated with mucopolysaccharidosis MPS type I (Hurler syndrome). Cardiovascular disease is a prominent feature of MPS I (PMID 9686810).
Created: 26 Nov 2019, 11:03 a.m. | Last Modified: 26 Nov 2019, 11:03 a.m.
Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis (MPS) type I, 607014

Publications

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

The guideline includes MPS type I (Hurler), other MPS disorders in Table 1, and the diagnostic test Leukocyte MPS enzymes, genetic analysis for this. Green genes on the Mucopolysaccharideosis, Gaucher, Fabry (Version 1.2) gene panel version 1.2 (code 75) that included a Mucopolysaccharidosis phenotype were added to this panel to represent the genes that would be included on the test from the guideline.
Created: 30 Apr 2019, 4:48 p.m.
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.
Created: 30 Apr 2019, 4:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Details

Mode of Inheritance
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
OMIM
252800
Clinvar variants
Variants in IDUA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IDUA.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: IDUA was added gene: IDUA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 27604308 Phenotypes for gene: IDUA were set to 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