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Mucopolysaccharidosis type VI
Gene: ARSB
ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #253200) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 9:07 p.m. | Last Modified: 20 Dec 2025, 9:07 p.m.
Panel Version: 1.2
ARSB has been added to the panel for R290 Mucopolysaccharidosis type VI with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:48 p.m. | Last Modified: 30 Jun 2023, 2:48 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
- mucopolysaccharidosis type 6, MONDO:0009661
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Intellectual disability
- Hyperammonaemia
- Likely inborn error of metabolism
- Mucopolysaccharidosis type VI
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200; mucopolysaccharidosis type 6, MONDO:0009661
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ARSB was added gene: ARSB was added to Mucopolysaccharidosis type VI. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal