Skeletal dysplasia
Gene: GNS
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID 252940
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: GNS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 28 Jul 2016, 1:34 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID 252940
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis type IIID 252940 for gene: GNS
Source NHS GMS was added to GNS. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GNS were set to Mucopolysaccharidosis type IIID 252940
Mode of inheritance for GNS was changed to BIALLELIC, autosomal or pseudoautosomal
GNS was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GNS was added to Unexplained skeletal dysplasiapanel. Sources:
GNS was created by sleigh