Macrocephaly_Megalencephaly
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Tags
- OMIM
- 611542
- Clinvar variants
- Variants in ARSB
- Penetrance
- None
- 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
5 Oct 2022, Gel status: 3
Added Tag, Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ARSB. Tag clinical trial tag was added to gene: ARSB.
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARSB was added gene: ARSB was added to Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARSB was set to Unknown