GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GNS

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIID 252940

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mucopolysaccharidosis type IIID 252940

OMIM

607664

Clinvar variants

Variants in GNS

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: GNS was added gene: GNS was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID 252940

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GNS