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Intellectual disability syndromic and non-syndromic

Gene: IDUA

Green List (high evidence)

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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

ID/DD is typically associated with severe MPS - a lysosomal storage disorder

DD/ID phenotype has a later onset compared to the other phenotypes associated with this condition. It is typically noticed after the age of 18months rather than as a neonate and by infancy, affected individuals have severe ID.

Classified as Definitive by ClinGen's General GCEP on 27/05/2020 - https://search.clinicalgenome.org/CCID:005113
Created: 18 Sep 2024, 6:24 a.m. | Last Modified: 18 Sep 2024, 6:24 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mucopolysaccharidosis type 1 MONDO:0001586

Publications

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idua has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDUA were changed from to mucopolysaccharidosis type 1 MONDO:0001586

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IDUA were set to 20301341

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IDUA were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IDUA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDUA was added gene: IDUA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDUA was set to Unknown