Parkinson Disease and Complex Parkinsonism
Gene: ARSAEnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
1 review
David Collier (King's College London)
Association bertween these gene and Parkinson's has been controversial, however a recent publication adds to the supportive evidence for this gene (PMID: 37381728). Gene for Metachromatic leukodystrophy (MIM 250100 AR)
Sources: Expert listCreated: 26 Jun 2024, 3:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Metachromatic leukodystrophy, OMIM:250100
- metachromatic leukodystrophy, juvenile form, MONDO:0009591
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ARSA were set to 37381728; 31312839
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arsa has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ARSA were set to PMID: 37381728 PMID: 31312839 PMID: 31312839
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: arsa has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance
David Collier (King's College London)gene: ARSA was added gene: ARSA was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: ARSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARSA were set to PMID: 37381728 PMID: 31312839 PMID: 31312839 Penetrance for gene: ARSA were set to unknown Review for gene: ARSA was set to AMBER