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BabyScreen+ newborn screening

Gene: IDUA

Green List (high evidence)
IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 16 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

normal at birth; onset in the first 12 months; variable severity (Scheie form - intellect preserved), but most severe

ERT and BMT well established therapies that significantly alter the course of the disease if started early

gene therapy of autologous bone marrow appears to be effective in early trials (PMID: 34788506)
Created: 11 Dec 2022, 6:11 a.m. | Last Modified: 11 Dec 2022, 6:11 a.m.
Panel Version: 0.1272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
coarse facie; corneal clouding; progressive neurodegeneration; dysostosis multiplex; hepatosplenomegaly; hernias; macrocephaly; cardiac valve involvement; SNHL; upper airways obstruction

Publications

Created: 11 Dec 2022, 6:11 a.m.
Last Modified: 11 Dec 2022, 6:11 a.m.
Panel version: 0.1272

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Range of severity, including early infantile forms.

Treatment: laronidase enzyme replacement; bone marrow transplant
Created: 7 Dec 2022, 10:39 p.m. | Last Modified: 7 Dec 2022, 10:39 p.m.
Panel Version: 0.1244

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type 1, MONDO:0001586

Created: 7 Dec 2022, 10:39 p.m.
Last Modified: 7 Dec 2022, 10:39 p.m.
Panel version: 0.1244

History Filter Activity

7 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idua has been classified as Green List (High Evidence).

7 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, MIM#607014 to Mucopolysaccharidosis type 1, MONDO:0001586

7 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: IDUA. Tag metabolic tag was added to gene: IDUA.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDUA was added gene: IDUA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, MIM#607014