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Mucopolysaccharidosis type IH or S
Gene: IDUA
IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #607014, #607015 & #607016) and the OMIM records were last accessed on 20 December 2025.Created: 20 Dec 2025, 8:54 p.m. | Last Modified: 20 Dec 2025, 8:54 p.m.
Panel Version: 1.2
IDUA has been added to the panel for R277 Mucopolysaccharidosis type IH/S with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:39 p.m. | Last Modified: 30 Jun 2023, 2:39 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mucopolysaccharidosis Ih, OMIM:607014
- Mucopolysaccharidosis Ih/s, OMIM:607015
- Mucopolysaccharidosis Is, OMIM:607016
- Hurler syndrome, MONDO:0011758
- Hurler-Scheie syndrome, MONDO:0011759
- Scheie syndrome, MONDO:0011760
- OMIM
- 252800
- Clinvar variants
- Variants in IDUA
- Penetrance
- None
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IDUA were changed from to Mucopolysaccharidosis Ih, OMIM:607014; Mucopolysaccharidosis Ih/s, OMIM:607015; Mucopolysaccharidosis Is, OMIM:607016; Hurler syndrome, MONDO:0011758; Hurler-Scheie syndrome, MONDO:0011759; Scheie syndrome, MONDO:0011760
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: IDUA was added gene: IDUA was added to Mucopolysaccharidosis type IH/S. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal