Mucopolysaccharideosis, Gaucher, Fabry

Gene: IDS

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene, with a green review and is a confirmed gene on G2P for this phenotype. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 6:03 p.m.
Comment on mode of inheritance: Confirmed on G2P (hemizygous) and OMIM (XLR).
Created: 29 Feb 2016, 6:02 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

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

Phenotypes
Mucopolysaccharidosis II (Hunter syndrome)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis II, 309900
  • Mucopolysaccharidosis Type II
  • MUCOPOLYSACCHARIDOSIS TYPE 2
OMIM
300823
Clinvar variants
Variants in IDS
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for IDS were set to Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II; MUCOPOLYSACCHARIDOSIS TYPE 2

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for IDS was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: UKGTN

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen