Skeletal dysplasia
Gene: IDUAEnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 9:20 a.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mucopolysaccharidosis Ih 607014
- Mucopolysaccharidosis Is 607016
- Mucopolysaccharidosis Ih/s 607015
- OMIM
- 252800
- Clinvar variants
- Variants in IDUA
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IH or S
- Mucopolysaccharideosis, Gaucher, Fabry
- Skeletal dysplasia
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Fetal hydrops
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 for gene: IDUA
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to IDUA. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IDUA were set to Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Is 607016
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDUA was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)IDUA was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)IDUA was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)IDUA was added to Unexplained skeletal dysplasiapanel. Sources: