Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IDUA
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016
Publications
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: IDUA; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemicallyCreated: 1 Feb 2016, 11:16 a.m.
Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemicallyCreated: 14 Sep 2015, 3:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hurler syndrome; Scheie syndrome
Publications
Added phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016 for gene: IDUA
Source NHS GMS was added to IDUA. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for IDUA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for IDUA were set to 23917744
Phenotypes for IDUA were set to 607014; 607016
IDUA was added to Craniosynostosis syndromespanel. Sources: Expert list