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Prepair 1000+

Gene: GALNS

Green List (high evidence)

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Also known as Morquio syndrome A.

Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications.

Most appear normal at birth, with onset in the first few years of life. Spectrum of severity, some case reports of presentation with ascites/hydrops, severe form is associated with death by second or third decade.
Created: 15 Oct 2024, 10:47 p.m. | Last Modified: 15 Oct 2024, 10:47 p.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis IVA, MIM#253000

Publications

Details

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: galns has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GALNS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidosis IVA, 253000 (3) for gene: GALNS

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALNS was added gene: GALNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)