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
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- Complete
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- DDG2P
- Likely inborn error of metabolism
- Fetal anomalies
- Adult onset leukodystrophy
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