Skeletal dysplasia
Gene: IDSEnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IDS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 9:15 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mucopolysaccharidosis II 309900
- OMIM
- 300823
- Clinvar variants
- Variants in IDS
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Hydrocephalus
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type II
- Fetal anomalies
- Lysosomal storage disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Mucopolysaccharidosis II 309900 for gene: IDS
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to IDS. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IDS were set to Mucopolysaccharidosis II 309900
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Upload gene information
Sarah Leigh (Genomics England Curator)IDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)IDS was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)IDS was added to Unexplained skeletal dysplasiapanel. Sources: