Hydrocephalus
Gene: ARSB
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
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
Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Source NHS GMS was added to ARSB.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI
Publications for ARSB were set to 11668612; 1301949; 9514506
This gene has been classified as Red List (Low Evidence).
ARSB was added to Hydrocephaluspanel. Source: Illumina TruGenome Clinical Sequencing Services
ARSB was created by oniblock
ARSB was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen