Gastrointestinal neuromuscular disordersGene: IDS
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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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.
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)
This gene has been classified as Green List (High Evidence).
Phenotypes for IDS were set to Mucopolysaccharidosis II 309900
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
IDS was created by sleigh
IDS was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN