Gastrointestinal neuromuscular disorders
Gene: IDS

IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels

3 reviews

Donna Bernstein (LAL-D Aware)

Green List (high evidence)

Mucopolysaccharidosis II is a true X-linked recessive lysosomal storage condition. Rare females have been affected due to complete loss of the paternally inherited allele (i.e complete skewed lyonization), but normally carriers do not exhibit clinical symptoms, though they may have enzyme activity levels lower than non-carriers, it is sufficient to prevent disease manifestations.

MPS II is not a neuromuscular disease. Patients have normal muscle strength.

MPSII is not considered a gastrointestinal disease. Although hepatomagaly and hernias could be categorized as gastrointestinal, other than these, GI manifestations are not typical of MPS II.
Created: 4 Feb 2022, 11:38 p.m. | Last Modified: 4 Feb 2022, 11:38 p.m.

Panel Version: 1.18

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Elevated urine glycosamino glycans, heparan and dermatan sulphate due to deficient iduronate 2-sulphatase activity; short stature; dysostosis multiplex; wide spaced teeth: kyphosis; hyrdocephalus; hearing loss; sleep apnea; facial coarsening; hernia; macrocephaly, macroglossia, joint stffness; hepatosplenomegaly; airway obstruction; seizures; cardiovascular valve disease; may have normal intelligence or CNS involvement

Publications

PMID: 15797184

Created: 4 Feb 2022, 11:38 p.m.
Last Modified: 4 Feb 2022, 11:38 p.m.
Panel version: 1.18

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: PMID: 9375851 reports a girl who was heterozygous for a variant and had the severe form of the disease. Only transcripts for the variant were identified, though she carried one wildtype allele.
Created: 19 Oct 2016, 9:14 a.m.

Comment on list classification: Rated green and current diagnostic by reviewer. >10 cases/family reports in OMIM for different variants from several different studies. Confirmed DD gene for Mucopolysaccharidosis II in Gene2Phenotype.
Created: 19 Oct 2016, 9:12 a.m.

Created: 19 Oct 2016, 9:14 a.m.

Panel version: 0.35

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Created: 12 Oct 2016, 7:10 a.m.

Panel version: 0.25

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Mucopolysaccharidosis II 309900

OMIM

300823

Clinvar variants

Variants in IDS

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Aug 2016, Gel status: 3