Skeletal dysplasia
Gene: GUSB
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220
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: GUSB; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 1:41 p.m.
Tier 2Created: 17 Jun 2016, 8:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis VII 253220 for gene: GUSB
Source NHS GMS was added to GUSB. 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 GUSB were set to Mucopolysaccharidosis VII 253220
Mode of inheritance for GUSB was changed to BIALLELIC, autosomal or pseudoautosomal
GUSB was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
GUSB was added to Unexplained skeletal dysplasiapanel. Sources:
GUSB was created by sleigh