Paediatric or syndromic cardiomyopathy

Gene: GUSB

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

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 VII, 253220; Mucopolysaccharidosis, Type VII; Mucopolysaccharidosis Type VII; MUCOPOLYSACCHARIDOSIS TYPE 7

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

I don't know

Mucopolysaccharidosis VII OMIM#253220

Created: 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