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  2. Skeletal dysplasia
  3. IDUA
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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 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type 1, MONDO:0001586

Created: 12 Apr 2021, 10:59 p.m.
Last Modified: 12 Apr 2021, 10:59 p.m.
Panel version: Imported from Mendeliome panel version 0.7132

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-reported gene-disease association
Created: 7 Feb 2020, 5:48 a.m. | Last Modified: 7 Feb 2020, 5:48 a.m.
Panel Version: 0.1289

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis Ih (MIM#607014); Mucopolysaccharidosis Ih/s (MIM#607015); Mucopolysaccharidosis Is (MIM#6070)

Publications

Created: 7 Feb 2020, 5:48 a.m.
Last Modified: 7 Feb 2020, 5:48 a.m.
Panel version: Imported from Mendeliome panel version 0.1289

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis Is 607016
  • Mucopolysaccharidosis Ih/s 607015
  • Mucopolysaccharidosis Ih 607014
OMIM
252800
Clinvar variants
Variants in IDUA
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, 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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Is 607016; Mucopolysaccharidosis Ih/s 607015; Mucopolysaccharidosis Ih 607014