CSS of at least one suture was present in 77% of 47 MPS cases (types I,II,VI, VII). >3 cases with IDUA, IDS, ARSB variants. One with GUSB (Oussoren et al 2018). ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mucopolysaccharidosis VI (MPS6) 253200
Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.
Created: 21 May 2019, 10:45 a.m.
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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.
Gene: arsb has been classified as Green List (High Evidence).
Mode of inheritance for gene: ARSB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucopolysaccharidosis VI (MPS6) 253200 for gene: ARSB
Publications for gene: ARSB were set to
gene: ARSB was added gene: ARSB was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ARSB was set to