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  3. GNS
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Fetal anomalies

Gene: GNS

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

I don't know

This gene should be demoted from Green to Amber at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Consistency check for Mucopolysaccharidosis Type III (Sanfilippo Syndrome) genes: GNS (MPS IIID) currently rated green; SGSH (MPS IIIA) and HGSNAT (MPS IIIC) rated amber; NAGLU (MPS IIIB) newly reviewed and rated amber. The four types of MPS III are described as biochemically distinct but clinically indistinguishable. Progressive multisystem lysosomal storage disease; disease onset is postnatal, typically before age ten years, with developmental delays and hyperactivity as the presenting features. Typically no features at birth or prenatally; cannot find any reports of prenatally ascertained cases or evidence for association with hydrops (as seen for MPS VII). Demote.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IIID, OMIM:252940

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MUCOPOLYSACCHARIDOSIS TYPE 3D
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Mucopolysaccharidosis type IIID, OMIM:252940
OMIM
607664
Clinvar variants
Variants in GNS
Penetrance
None
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 2

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_NHS_review was removed from gene: GNS. Tag Q3_25_demote_amber was removed from gene: GNS.

12 Dec 2025, Gel status: 2

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to GNS. Source NHS GMS was added to GNS. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Sep 2025, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_NHS_review tag was added to gene: GNS. Tag Q3_25_demote_amber tag was added to gene: GNS.

5 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 for gene: GNS

1 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, OMIM:252940

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNS was added gene: GNS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D