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Fetal anomalies

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 13 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-Umbilical hernia, may cause hydrops.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
DDG2P rating in original PAGE list: Confirmed for MUCOPOLYSACCHARIDOSIS TYPE 1S, Confirmed for MUCOPOLYSACCHARIDOSIS TYPE 1H/S and Confirmed for MUCOPOLYSACCHARIDOSIS TYPE 1H.
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 1H
  • MUCOPOLYSACCHARIDOSIS TYPE 1H/S
  • MUCOPOLYSACCHARIDOSIS TYPE 1S
OMIM
252800
Clinvar variants
Variants in IDUA
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H for gene: IDUA

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S for gene: IDUA

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: IDUA was added gene: IDUA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S