Hydrocephalus

Gene: IDS

Green List (high evidence)

IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

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 309900
OMIM
300823
Clinvar variants
Variants in IDS
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to IDS.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for IDS were set to Mucopolysaccharidosis II 309900

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IDS was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

IDS was created by oniblock