Previous cardiomyopathies - including childhood onset
Gene: GUSB
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 VII, 253220; Mucopolysaccharidosis, Type VII; Mucopolysaccharidosis Type VII; MUCOPOLYSACCHARIDOSIS TYPE 7
Publications
Mucopolysaccharidosis VII OMIM#253220Created: 25 Mar 2019, 4:30 p.m.
Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature. Monta_o et al. J Med Genet 2016;53:403418: reported that 37% of cases have paediatric onset cardiomyopathy which can be a presenting feature.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source MetBioNet was added to GUSB. Added phenotypes Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; MUCOPOLYSACCHARIDOSIS TYPE 7; Mucopolysaccharidosis Type VII for gene: GUSB
Source South West GLH was added to GUSB.
Eleanor Williams: Note: no phenotype in the sour
Added phenotypes syndromic HCM for gene: GUSB
gene: GUSB was added gene: GUSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUSB were set to 27604308 Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220; Mucopolysaccharidosis, Type VII; MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis Type VII; MUCOPOLYSACCHARIDOSIS TYPE 7