This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
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, 11:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mucopolysaccharidosis II 309900
- OMIM
- 300823
- Clinvar variants
- Variants in IDS
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Mucopolysaccharidosis type II
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: IDS was added gene: IDS was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. 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 Phenotypes for gene: IDS were set to Mucopolysaccharidosis II 309900