Mucopolysaccharideosis, Gaucher, Fabry
Gene: IDUAEnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green gene, with a green review and is a confirmed gene on G2P for Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type 1S. Mode of inheritance confirmed on G2P and OMIM.Created: 29 Feb 2016, 6:05 p.m.
Helen Savage (Congenica Ltd)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mucopolysaccharidosis Ih, 607014
- Mucopolysaccharidosis type 1H
- Mucopolysaccharidosis type 1S
- Mucopolysaccharidosis Is, 607016
- Mucopolysaccharidosis type 1H/S
- Mucopolysaccharidosis Ih/s, 607015
- Mucopolysaccharidosis, Type I
- Hurler syndrome
- Hurler-Scheie syndrome
- Scheie syndrome
- OMIM
- 252800
- Clinvar variants
- Variants in IDUA
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type IH or S
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Fetal hydrops
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IDUA were set to Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis type 1H; Mucopolysaccharidosis type 1S; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis type 1H/S; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IDUA were set to Mucopolysaccharidosis Ih, 607014; Mucopolysaccharidosis Is, 607016; Mucopolysaccharidosis Ih/s, 607015; Mucopolysaccharidosis, Type I; Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome
Added New Source
Eik Haraldsdottir (Genomics England)IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene IDUA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)IDUA was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen