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Newborns main panel

Gene: IDUA

Green List (high evidence)
IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Question about detecting those with MPS I Scheie phenotype who may not present until adulthood. Consider NVD if uncertain whether to report variant(s).
Created: 25 Sep 2024, 2:54 p.m. | Last Modified: 25 Sep 2024, 2:54 p.m.
Panel Version: 0.469
Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Lysosomal Diseases Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50009/
Created: 25 Sep 2024, 2:54 p.m. | Last Modified: 25 Sep 2024, 2:54 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 2:54 p.m.
Last Modified: 25 Sep 2024, 2:54 p.m.
Panel version: 0.469

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
IDUA 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
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: IDUA.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis I to Mucopolysaccharidosis Type I

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis I for gene: IDUA

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis I for gene: IDUA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Mucopolysaccharidosis I for gene: IDUA

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IDUA. Added phenotypes Mucopolysaccharidosis I for gene: IDUA Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IDUA was added gene: IDUA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal