Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IDS
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900
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: IDS; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Comment when marking as ready: Craniosynostosis is a recognised complication of Hunter disease but diagnosis requires other clinical features to be present and should be confirmed biochemicallyCreated: 1 Feb 2016, 11:14 a.m.
Craniosynostosis is a recognised complication of Hunter disease but diagnosis requires other clinical features to be present and should be confirmed biochemicallyCreated: 14 Sep 2015, 3:24 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hunter syndrome
Publications
Added phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 for gene: IDS
Source NHS GMS was added to IDS. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for IDS were set to 309900
This gene has been classified as Green List (High Evidence).
Publications for IDS were set to 15314824
Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
IDS was added to Craniosynostosis syndromespanel. Sources: Expert list