Newborns main panel
Gene: IDS

IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

IDS curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Although the disease is almost exclusively reported in males, rare sporadic cases in females do occur. The diagnosis of MPS II is usually established in a female proband presenting with suggestive clinical features by identification of a heterozygous IDS pathogenic variant on molecular genetic testing (see Table 1). On rare occasion, heterozygous females manifest findings of MPS II. This is thought to result from skewed inactivation of the normal paternally inherited X chromosome and expression of the maternally inherited mutated IDS allele [Jurecka et al 2012, Guilln-Navarro et al 2013].
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Mucopolysaccharidosis Type II

OMIM

300823

Clinvar variants

Variants in IDS

Penetrance

None

Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II to Mucopolysaccharidosis Type II

14 Sep 2023, Gel status: 3