Mucopolysaccharideosis, Gaucher, Fabry
Gene: IDSEnsemblGeneIds (GRCh38): ENSG00000010404
EnsemblGeneIds (GRCh37): ENSG00000010404
OMIM: 300823, Gene2Phenotype
IDS is in 15 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)
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
-
- DDG2P
- Gastrointestinal neuromuscular disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type II
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for IDS were set to Mucopolysaccharidosis II, 309900; Mucopolysaccharidosis Type II; MUCOPOLYSACCHARIDOSIS TYPE 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Eik Haraldsdottir (Genomics England)IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)IDS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen