Hydrocephalus

Gene: ARSB

Green List (high evidence)

ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment on list classification: In view of macrocephaly and occasional hydrocephalus
Created: 4 May 2017, 8:10 a.m.
Sufficient evidence for causation in MPS6. Hydrocephalus is reported (not commonly) and macrocephaly is. Therefore, even though there are likely to be other systemic clues to the diagnosis, this could be a route in. Therefore include.
Created: 4 May 2017, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200

Publications

Details

Mode of Inheritance
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) 253200
  • Mucopolysaccharidosis, Type VI
OMIM
611542
Clinvar variants
Variants in ARSB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARSB.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Mar 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI

29 Mar 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for ARSB were set to 11668612; 1301949; 9514506

29 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

ARSB was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

ARSB was created by oniblock

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

ARSB was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen