Craniosynostosis

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 13 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016

Publications

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; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Richard Scott (Genomics England Curator)

Comment when marking as ready: Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemically
Created: 1 Feb 2016, 11:16 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemically
Created: 14 Sep 2015, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hurler syndrome; Scheie syndrome

Publications

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016 for gene: IDUA

5 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)

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

1 Feb 2016, Gel status: 0

Set publications

Richard Scott (Genomics England Curator)

Publications for IDUA were set to 23917744

1 Feb 2016, Gel status: 0

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for IDUA were set to 607014; 607016

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

IDUA was added to Craniosynostosis syndromespanel. Sources: Expert list