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Cardiomyopathies - including childhood onset

Gene: IDS

Green List (high evidence)

IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels

2 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

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
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II; MUCOPOLYSACCHARIDOSIS TYPE 2

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
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
OMIM
300823
Clinvar variants
Variants in IDS
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 IDS.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: IDS was added gene: IDS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 27604308 Phenotypes for gene: IDS were set to MPS II, Hunter disease (Mucopolysaccharidoses); MUCOPOLYSACCHARIDOSIS TYPE 2; Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II