Gastrointestinal neuromuscular disorders

Gene: IDS

Green List (high evidence)

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

2 reviews

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.

Neil shah (GOSH)

Green List (high evidence)

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

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

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IDS were set to Mucopolysaccharidosis II 309900

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

IDS was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN