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Mucopolysaccharidosis type II
Gene: IDS
IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #309900) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 8:55 p.m. | Last Modified: 20 Dec 2025, 8:55 p.m.
Panel Version: 1.2
IDS has been added to the panel for R278 Mucopolysaccharidosis type II with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:40 p.m. | Last Modified: 30 Jun 2023, 2:40 p.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis II, OMIM:309900
- mucopolysaccharidosis type 2, MONDO:0010674
- OMIM
- 300823
- Clinvar variants
- Variants in IDS
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Likely inborn error of metabolism
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type II
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: IDS were changed from to Mucopolysaccharidosis II, OMIM:309900; mucopolysaccharidosis type 2, MONDO:0010674
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: IDS was added gene: IDS was added to Mucopolysaccharidosis type II. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females