Previous cardiomyopathies - including childhood onset
Gene: GLB1
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
GM1-gangliosidosis, type I OMIM#230500; GM1-gangliosidosis, type II OMIM#230600; GM1-gangliosidosis, type III OMIM#230650; Mucopolysaccharidosis type IVB (Morquio) OMIM#253010Created: 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 featureCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source MetBioNet was added to GLB1. Added phenotypes GM1-gangliosidosis, type III, 230650; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type I, 230500; Mucopolysaccharidosis Type IVB; MUCOPOLYSACCHARIDOSIS TYPE 4B for gene: GLB1
Source South West GLH was added to GLB1.
Eleanor Williams: Note: no phenotype in the sour
Added phenotypes syndromic HCM for gene: GLB1
gene: GLB1 was added gene: GLB1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green 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 Mucopolysaccharidosis, Type IV; MPS IVB, Morquio B disease (MPS IV, Morquio disease); Mucopolysaccharidosis type IVB (Morquio), 253010; GM1-gangliosidosis (Sphingolipidoses); GM1-gangliosidosis, type II, 230600; GM1-gangliosidosis, type III, 230650; MUCOPOLYSACCHARIDOSIS TYPE 4B; Mucopolysaccharidosis Type IVB; GM1-gangliosidosis, type I, 230500