Lysosomal Storage Disorder

Gene: IDUA

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
Created: 12 Apr 2021, 10:57 p.m. | Last Modified: 12 Apr 2021, 10:57 p.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis Ih, MIM# 607014
  • Mucopolysaccharidosis Ih/s, MIM# 607015
  • Mucopolysaccharidosis Is, MIM# 607016
  • Mucopolysaccharidosis type 1, MONDO:0001586
OMIM
252800
Clinvar variants
Variants in IDUA
Penetrance
None
Panels with this gene

History Filter Activity

12 Apr 2021, 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).

12 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, MIM# 607014; Mucopolysaccharidosis Ih/s, MIM# 607015; Mucopolysaccharidosis Is, MIM# 607016; Mucopolysaccharidosis type 1, MONDO:0001586

12 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDUA was added gene: IDUA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: IDUA was set to Unknown