Cardiomyopathies - including childhood onsetGene: GALNS
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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
Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A
Source Expert Review Red was added to GALNS. Source NHS GMS was added to GALNS. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: GALNS was added gene: GALNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALNS were set to 27604308 Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)