Previous cardiomyopathies - including childhood onset
Gene: IDUA
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
Source MetBioNet was added to IDUA. Added phenotypes Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Ih, 607014; Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis type 1H; Hurler-Scheie syndrome; Hurler syndrome for gene: IDUA
Eleanor Williams: Note: no phenotype in the sour
gene: IDUA was added gene: IDUA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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 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