Adult onset dystonia, chorea or related movement disorder
Gene: ARSAEnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 4:25 p.m. | Last Modified: 24 Feb 2025, 4:25 p.m.
Panel Version: 4.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
ARSA variants are associated with Metachromatic leukodystrophy (OMIM:250100) and as definitive Gen2Phen gene for ARSA-related arylsulfatase A deficiency. Numerous ARSA variants have been reported in numerous unrelated cases of OMIM:250100 (PMID: 1670590; 9600244; 1673291; 1684088).Created: 29 Aug 2024, 4:27 p.m. | Last Modified: 29 Aug 2024, 4:27 p.m.
Panel Version: 4.1
Louise Daugherty (Genomics England Curator)
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Gene associated with AR Metachromatic leukodystrophy, which includesmovement disorder as a feature and may be adult onset. May be appropriate to include following clinical input.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Metachromatic leukodystrophy, 250100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- South West GLH
- Phenotypes
-
- Metachromatic leukodystrophy, OMIM:250100
- metachromatic leukodystrophy, juvenile form, MONDO:0009591
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ARSA.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ARSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, OMIM:250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ARSA.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ARSA were set to 20301334
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, 250100; Dystonia to Metachromatic leukodystrophy, OMIM:250100
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: arsa has been classified as Amber List (Moderate Evidence).
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA Publications for gene ARSA were changed from to 20301334
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ARSA.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ARSA.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ARSA was added gene: ARSA was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ARSA was set to Phenotypes for gene: ARSA were set to Dystonia