Hydrocephalus
Gene: IDS
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
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
Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II, OMIM:309900
Source NHS GMS was added to IDS.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for IDS were set to Mucopolysaccharidosis II 309900
This gene has been classified as Green List (High Evidence).
IDS was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen
IDS was created by oniblock