Lysosomal Storage Disorder
Gene: GNS

GNS (glucosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000135677
EnsemblGeneIds (GRCh37): ENSG00000135677
OMIM: 607664, Gene2Phenotype
GNS is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 9 Apr 2021, 9:55 a.m. | Last Modified: 9 Apr 2021, 9:55 a.m.

Panel Version: 0.118

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIID, MIM# 252940; Sanfilippo syndrome type D, MONDO:0009658

Publications

Created: 9 Apr 2021, 9:55 a.m.
Last Modified: 9 Apr 2021, 9:55 a.m.
Panel version: 0.118

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mucopolysaccharidosis type IIID, MIM# 252940
Sanfilippo syndrome type D, MONDO:0009658

OMIM

607664

Clinvar variants

Variants in GNS

Penetrance

None

Publications

Panels with this gene