This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
Gene: ARSB
ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels
1 review
alisdair mcneill (Sheffield childrens hospital)
known gene for lysosomal storage disorderCreated: 1 Jul 2016, 7:56 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Mucopolysaccharidosis type VI (Maroteaux-Lamy)
- arylsulfatase B deficiency
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Undiagnosed metabolic disorders
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Paediatric or syndromic cardiomyopathy
- Mucopolysaccharidosis type VI
- Intellectual disability
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
History Filter Activity
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
30 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)ARSB was created by alicegardham
30 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)ARSB was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature