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BabyScreen+ newborn screening

Gene: ARSB

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis VI (MPS6, MIM# 253200

Publications

Created: 5 Oct 2022, 7:31 a.m.
Last Modified: 5 Oct 2022, 7:31 a.m.
Panel version: 0.279

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

This is MPS VI

onset usually in early childhood

Enzyme replacement therapy is well established for this disorder

from Rx-gene:

Guideline reference 1 www.ncbi.nlm.nih.gov/pubmed/31142378
Reference 1 www.omim.org/entry/253200
Reference 2 www.ncbi.nlm.nih.gov/pubmed/31142378

There is also a gene therapy trial currently under way:
https://clinicaltrials.gov/ct2/show/NCT03173521?cond=Mucopolysaccharidosis+VI&draw=2&rank=10
Created: 26 Sep 2022, 7:41 a.m. | Last Modified: 26 Sep 2022, 7:41 a.m.
Panel Version: 0.205

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2022, 7:41 a.m.
Last Modified: 26 Sep 2022, 7:41 a.m.
Panel version: 0.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Mucopolysaccharidosis VI (MPS6, MIM# 253200
Tags
treatable clinical trial metabolic
OMIM
611542
Clinvar variants
Variants in ARSB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: ARSB.

5 Oct 2022, 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).

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200

5 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARSB were set to

5 Oct 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ARSB. Tag clinical trial tag was added to gene: ARSB.

18 Sep 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 gNBS. Sources: BabySeq Category A gene,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)