Skeletal dysplasia
Gene: IDUA
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Previously called IDA. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Is 607016
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; 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, 9:20 a.m.
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Is 607016
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 for gene: IDUA
Source NHS GMS was added to IDUA. 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 IDUA were set to Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Is 607016
Mode of inheritance for IDUA was changed to BIALLELIC, autosomal or pseudoautosomal
IDUA was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
IDUA was created by sleigh
IDUA was added to Unexplained skeletal dysplasiapanel. Sources: