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  2. Lysosomal storage disorder
  3. GNS
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Lysosomal storage disorder

Gene: GNS

Green List (high evidence)
GNS (glucosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000135677
EnsemblGeneIds (GRCh37): ENSG00000135677
OMIM: 607664, Gene2Phenotype
GNS is in 10 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIID 252940

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis type IIID, OMIM:252940
OMIM
607664
Clinvar variants
Variants in GNS
Penetrance
None
Panels with this gene

History Filter Activity

1 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GNS were changed from Mucopolysaccharidosis type IIID 252940 to Mucopolysaccharidosis type IIID, OMIM:252940

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GNS was added gene: GNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940