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  2. Cardiomyopathy_Paediatric
  3. GALNS
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Cardiomyopathy_Paediatric

Gene: GALNS

Red List (low evidence)
GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mucopolysaccharidosis Type IVA
  • MPS IVA, Morquio A disease (MPS IV, Morquio disease)
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis IVA, 253000
OMIM
612222
Clinvar variants
Variants in GALNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALNS was added gene: GALNS was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,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 Type IVA; MPS IVA, Morquio A disease (MPS IV, Morquio disease); MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis IVA, 253000