Muscular dystrophy and myopathy_Paediatric

Gene: IDUA

Red List (low evidence)

IDUA (iduronidase, alpha-L-)
EnsemblGeneIds (GRCh38): ENSG00000127415
EnsemblGeneIds (GRCh37): ENSG00000127415
OMIM: 252800, Gene2Phenotype
IDUA is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case reported with core myopathy.
Sources: Literature
Created: 1 Aug 2024, 1:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: idua has been classified as Red List (Low Evidence).

1 Aug 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IDUA was added gene: IDUA was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 38982518 Phenotypes for gene: IDUA were set to congenital myopathy MONDO:0019952 Review for gene: IDUA was set to RED gene: IDUA was marked as current diagnostic