Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mucopolysaccharidosis type IH or S

Gene: IDUA

Green List (high evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 15 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

IDUA has been added to the panel for R277 Mucopolysaccharidosis type IH/S with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 2:39 p.m. | Last Modified: 30 Jun 2023, 2:39 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IDUA was added gene: IDUA was added to Mucopolysaccharidosis type IH/S. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal