Lysosomal Storage Disorder
Gene: IDUAEnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Muscular dystrophy and myopathy_Paediatric
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Facial papules
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: idua has been classified as Green List (High Evidence).
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
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
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