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Mucopolysaccharidosis type IVA


Green List (high evidence)

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

GALNS has been added to the panel for R287 Mucopolysaccharidosis type IVA with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:46 p.m. | Last Modified: 30 Jun 2023, 2:46 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GALNS was added gene: GALNS was added to Mucopolysaccharidosis type IVA. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal