ARSB

arylsulfatase B
OMIM: 611542, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ARSB 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 type VI (Maroteaux-Lamy), 253200 Mucopolysaccharidosis, Type VI Mucopolysaccharidosis Type VI MUCOPOLYSACCHARIDOSIS TYPE 6
Red ARSB in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Green ARSB in Hydrocephalus Level 2: Neurology Version 5.8 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Green ARSB 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 type VI (Maroteaux-Lamy) OMIM:253200 mucopolysaccharidosis type 6 MONDO:0009661
Green ARSB 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 Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
Green ARSB 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 VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Mucopolysaccharidosis, Type VI Mucopolysaccharidosis Type VI MUCOPOLYSACCHARIDOSIS TYPE 6
Green ARSB 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 MUCOPOLYSACCHARIDOSIS TYPE 6 Mucopolysaccharidosis, Type VI Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 Mucopolysaccharidosis Type VI MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
Green ARSB 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 6
Green ARSB 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 Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis VI (MPS6) 253200
Green ARSB 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 6 253200
Red ARSB in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory Phenotypes hearing loss
Green ARSB 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 Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)
Amber ARSB 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 Expert Review Amber NHS GMS MetBioNet MetBioNet Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 MUCOPOLYSACCHARIDOSIS TYPE 6 Mucopolysaccharidosis, Type VI MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) Mucopolysaccharidosis Type VI
Red ARSB 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 ARSB in Mucopolysaccharidosis type VI 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 type VI (Maroteaux-Lamy), OMIM:253200 mucopolysaccharidosis type 6, MONDO:0009661