Skeletal dysplasia
Gene: IDS
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
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; 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: 29 Jul 2016, 9:15 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis II 309900 for gene: IDS
Source NHS GMS was added to IDS. 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 IDS were set to Mucopolysaccharidosis II 309900
Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
IDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
IDS was created by sleigh
IDS was added to Unexplained skeletal dysplasiapanel. Sources: