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Prepair 1000+

Gene: IDS

Green List (high evidence)
IDS (iduronate 2-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 16 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- Multisystem involvement with significant variability in both age of onset and rate of progression
- Clinical features common at age 18 months to four years: Short stature, hepatosplenomegaly, joint contractures, coarse facies, frequent ear/sinus infections, umbilical hernia
- Pathogenic variants in IDS result in absence or reduced levels of I2S enzyme activity, which decreases the amount of the sulfate moiety released from the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate during their degradation, disrupting cellular function and causing disease.

NB: ClinGen uses mucopolysaccharidosis type 2 MONDO:0010674
Created: 2 Dec 2024, 3:37 a.m. | Last Modified: 2 Dec 2024, 3:37 a.m.
Panel Version: 1.633

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

Phenotypes
Mucopolysaccharidosis II, MIM# 309900; Hunter syndrome, MONDO:0010674

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Dec 2024, 3:37 a.m.
Last Modified: 2 Dec 2024, 3:37 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ids has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II, 309900 (3) to Mucopolysaccharidosis II, MIM# 309900; Hunter syndrome, MONDO:0010674

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IDS were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidosis II, 309900 (3) for gene: IDS

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDS was added gene: IDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)