Hydrocephalus
Gene: ARSBEnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 GreenCreated: 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)
Comment on list classification: In view of macrocephaly and occasional hydrocephalusCreated: 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), OMIM:253200
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Likely inborn error of metabolism
- Mucopolysaccharidosis type VI
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ARSB.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI
Set publications
Helen Brittain (Genomics England Curator)Publications for ARSB were set to 11668612; 1301949; 9514506
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)ARSB was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services
Created
Olivia Niblock (Genomics England Curator)ARSB was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)ARSB was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen