IDUA

iduronidase, alpha-L-
OMIM: 252800, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green IDUA in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1H Mucopolysaccharidosis type 1S Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis, Type I Hurler syndrome Hurler-Scheie syndrome Scheie syndrome
Red IDUA in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Amber IDUA in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Mucopolysaccharidosis Ih, 607014 Hurler syndrome, MPS I
Green IDUA in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Mucopolysaccharidosis Ih OMIM:607014 Hurler syndrome MONDO:0011758 Mucopolysaccharidosis Is OMIM:607016 Scheie syndrome MONDO:0011760 Mucopolysaccharidosis Ih/s OMIM:607015 Hurler-Scheie syndromeMONDO:0011759
Green IDUA in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Mucopolysaccharidosis Ih 607014 Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015
Green IDUA in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1H Mucopolysaccharidosis type 1S Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis, Type I Hurler syndrome Hurler-Scheie syndrome Scheie syndrome
Green IDUA in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Hurler syndrome Mucopolysaccharidosis type 1H/S MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 1H Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis, Type I Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih, 607014
Green IDUA in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H MUCOPOLYSACCHARIDOSIS TYPE 1H/S MUCOPOLYSACCHARIDOSIS TYPE 1S
Green IDUA in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes 607016 Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014 607014
Green IDUA in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 MUCOPOLYSACCHARIDOSIS TYPE 1H 607014
Green IDUA in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S)
Green IDUA in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS MetBioNet Expert Review Green MetBioNet Expert Review Green Phenotypes MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1S Mucopolysaccharidosis Is, 607016 Hurler syndrome Mucopolysaccharidosis Ih/s, 607015 Scheie syndrome Mucopolysaccharidosis, Type I Hurler-Scheie syndrome Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1H
Red IDUA in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green IDUA in Mucopolysaccharidosis type IH or S Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mucopolysaccharidosis Ih, OMIM:607014 Mucopolysaccharidosis Ih/s, OMIM:607015 Mucopolysaccharidosis Is, OMIM:607016 Hurler syndrome, MONDO:0011758 Hurler-Scheie syndrome, MONDO:0011759 Scheie syndrome, MONDO:0011760