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Prepair 1000+

Gene: ARSB

Green List (high evidence)
ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 14 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol/name: ARSB
Is the phenotype(s) severe and onset <18yo ? Yes

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.
Onset usually in early childhood.

Treatments available: Enzyme replacement therapy is well established for this disorder.
Created: 24 Jul 2024, 7:14 a.m. | Last Modified: 24 Jul 2024, 7:14 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200

Publications

Created: 24 Jul 2024, 7:14 a.m.
Last Modified: 24 Jul 2024, 7:14 a.m.
Panel version: 1.9

History Filter Activity

25 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsb has been classified as Green List (High Evidence).

25 Jul 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARSB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) for gene: ARSB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARSB was added gene: ARSB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)