Hydrocephalus
Gene: IDSEnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment on list classification: Causation clear. Ventricular dilatation reported in some and there are reports of females affected without biallelic mutations.Created: 9 May 2017, 4:07 p.m.
Clear evidence of causation. Macrocephaly is a feature, therefore appropriate. Ventricular dilatation also reported, but not common. Note multi-system involvement however.
Molecular heterogeneity noted, large rearrangements also common.Created: 4 May 2017, 9:26 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mucopolysaccharidosis II 309900
Publications
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
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mucopolysaccharidosis II, OMIM:309900
- OMIM
- 300823
- Clinvar variants
- Variants in IDS
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal dysplasia
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Likely inborn error of metabolism
- Hyperammonaemia
- Paediatric or syndromic cardiomyopathy
- Hydrocephalus
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mucopolysaccharidosis type II
- DDG2P
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II, OMIM:309900
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to IDS.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for IDS were set to Mucopolysaccharidosis II 309900
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)IDS was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)IDS was created by oniblock