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Prepair 1000+

Gene: GNS

Green List (high evidence)

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

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Onset in early childhood
- Severe ID
Created: 19 Nov 2024, 10:46 p.m. | Last Modified: 19 Nov 2024, 10:46 p.m.
Panel Version: 1.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GNS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidosis type IIID, 252940 (3) for gene: GNS

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: GNS was added gene: GNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)