Early onset dystonia
Gene: ARSA
ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Parkinson Disease and Complex Parkinsonism
- Lysosomal storage disorder
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Hereditary neuropathy
- Fetal anomalies
- DDG2P
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()ARSA was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory