Lysosomal storage disorder
Gene: ARSB

ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance

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

OMIM

611542

Clinvar variants

Variants in ARSB

Penetrance

None

Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200; mucopolysaccharidosis type 6 MONDO:0009661

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ARSB was added gene: ARSB was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200

Lysosomal storage disorder Gene: ARSB