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  2. Likely inborn error of metabolism
  3. IDUA
Genes in panel
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Likely inborn error of metabolism

Gene: IDUA

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hurler syndrome
  • Mucopolysaccharidosis type 1H/S
  • MPS I, Hurler, Scheie disease (Mucopolysaccharidoses)
  • Scheie syndrome
  • Hurler-Scheie syndrome
  • Mucopolysaccharidosis type 1S
  • Mucopolysaccharidosis type 1H
  • Mucopolysaccharidosis Ih/s, 607015
  • Mucopolysaccharidosis, Type I
  • Mucopolysaccharidosis Is, 607016
  • Mucopolysaccharidosis Ih, 607014
OMIM
252800
Clinvar variants
Variants in IDUA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IDUA. Source London North GLH was added to IDUA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: IDUA was added gene: IDUA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 27604308 Phenotypes for gene: IDUA were set to Hurler syndrome; Mucopolysaccharidosis type 1H/S; MPS I, Hurler, Scheie disease (Mucopolysaccharidoses); Scheie syndrome; Hurler-Scheie syndrome; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih, 607014