Skeletal dysplasia
Gene: ARSB
Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Listedin Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), and Limb hypoplasia-reduction defects gp of SD. AR. Many cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
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: ARSB; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 27 Jul 2016, 1:12 p.m.
Tier 2Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 for gene: ARSB
Source NHS GMS was added to ARSB. 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 ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Mode of inheritance for ARSB was changed to BIALLELIC, autosomal or pseudoautosomal
ARSB was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ARSB was added to Unexplained skeletal dysplasiapanel. Sources:
ARSB was created by sleigh