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Cardiomyopathies - including childhood onset

Gene: GUSB

Green List (high evidence)

GUSB (glucuronidase beta)
EnsemblGeneIds (GRCh38): ENSG00000169919
EnsemblGeneIds (GRCh37): ENSG00000169919
OMIM: 611499, Gene2Phenotype
GUSB is in 15 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

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 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

Rebecca Whittington (South West GLH)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • Expert Review Green
Phenotypes
  • MPS VII, Sly disease (MPS IV, Morquio disease)
  • Mucopolysaccharidosis VII, 253220
  • MUCOPOLYSACCHARIDOSIS TYPE 7
  • syndromic HCM
  • Mucopolysaccharidosis Type VII
  • Mucopolysaccharidosis, Type VII
OMIM
611499
Clinvar variants
Variants in GUSB
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 GUSB.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: GUSB was added gene: GUSB was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH 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 MPS VII, Sly disease (MPS IV, Morquio disease); Mucopolysaccharidosis VII, 253220; MUCOPOLYSACCHARIDOSIS TYPE 7; syndromic HCM; Mucopolysaccharidosis Type VII; Mucopolysaccharidosis, Type VII