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Paediatric or syndromic cardiomyopathy


Red List (low evidence)

GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 14 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

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

Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A


  • National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012)


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • MetBioNet
  • MetBioNet
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis Type IVA
  • Mucopolysaccharidosis, Type IV
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
Clinvar variants
Variants in GALNS
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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)

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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)