IDUA

iduronidase, alpha-L-
OMIM: 252800, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green IDUA in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014 607016
Amber IDUA in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hurler syndrome, MPS 1
Green IDUA in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green IDUA in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih (MIM#607014) Mucopolysaccharidosis Ih/s (MIM#607015) Mucopolysaccharidosis Is (MIM#6070) Mucopolysaccharidosis type 1, MONDO:0001586
Green IDUA in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih, MIM# 607014 Mucopolysaccharidosis Ih/s, MIM# 607015 Mucopolysaccharidosis Is, MIM# 607016 Mucopolysaccharidosis type 1, MONDO:0001586
Green IDUA in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green IDUA in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Is 607016 Mucopolysaccharidosis Ih/s 607015 Mucopolysaccharidosis Ih 607014
Green IDUA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis Ih, 607014 (3)
Green IDUA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Scheie syndrome Hurler-Scheie syndrome Mucopolysaccharidosis type 1H Mucopolysaccharidosis Ih/s, 607015 Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis type 1S Hurler syndrome MPS I, Hurler, Scheie disease (Mucopolysaccharidoses) Mucopolysaccharidosis, Type I Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis Is, 607016
Green IDUA in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis Ih
Green IDUA in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih (MIM#607014) Mucopolysaccharidosis Ih/s (MIM#607015) Mucopolysaccharidosis Is (MIM#6070) Mucopolysaccharidosis type 1, MONDO:0001586
Green IDUA in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis Ih, 607014 (3)
Green IDUA in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Mucopolysaccharidosis type 1, MONDO:0001586 Tags treatable metabolic
Green IDUA in Facial papules Level 2: Dermatological disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mucopolysaccharidosis type 1 MONDO:0001586
Green IDUA in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mucopolysaccharidosis Ih, 607014 (3)