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Cardiomyopathies - including childhood onset

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 18 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
GM1-gangliosidosis, type I, 230500; GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis type IVB (Morquio), 253010; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B

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

GM1-gangliosidosis, type I OMIM#230500; GM1-gangliosidosis, type II OMIM#230600; GM1-gangliosidosis, type III OMIM#230650; Mucopolysaccharidosis type IVB (Morquio) OMIM#253010
Created: 25 Mar 2019, 4:30 p.m.
OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key 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
  • GM1-gangliosidosis, type I, 230500
  • Mucopolysaccharidosis type IVB (Morquio), 253010
  • GM1-gangliosidosis (Sphingolipidoses)
  • syndromic HCM
  • Mucopolysaccharidosis Type IVB
  • GM1-gangliosidosis, type II, 230600
  • MUCOPOLYSACCHARIDOSIS TYPE 4B
  • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
  • GM1-gangliosidosis, type III, 230650
  • Mucopolysaccharidosis, Type IV
OMIM
611458
Clinvar variants
Variants in GLB1
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 GLB1.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: GLB1 was added gene: GLB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 27604308 Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); syndromic HCM; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type II, 230600; MUCOPOLYSACCHARIDOSIS TYPE 4B; MPS IVB, Morquio B disease (MPS IV, Morquio disease); GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV