Cardiomyopathy_Paediatric
Gene: ARSB
ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 14 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- MetBioNet
- NHS GMS
- Phenotypes
-
- MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
- Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis, Type VI
- MUCOPOLYSACCHARIDOSIS TYPE 6
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARSB was added gene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6