This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Literature
- Phenotypes
-
- Mucopolysaccharidosis II, 309900
- Hunter syndrome
- OMIM
- 300823
- Clinvar variants
- Variants in IDS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type II
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)IDS was added to Undiagnosed neurocutaneous disorderspanel. Sources: Literature
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)IDS was created by rfoulger