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Skeletal dysplasia

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Previously called IDA. Several cases; Review on behalf of Tracy Lester
Created: 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)

I don't know

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: green
Created: 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 reported
Created: 29 Jul 2016, 9:20 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015 for gene: IDUA

6 Mar 2019, Gel status: 3

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)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IDUA were set to Mucopolysaccharidosis Ih 607014; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Is 607016

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IDUA was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 4

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

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IDUA was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

IDUA was added to Unexplained skeletal dysplasiapanel. Sources: