Hereditary ataxia
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
2 reviews
emma baple (Genomics England Curator)
Comment when marking as ready: good evidenceCreated: 11 Jul 2016, 4:57 a.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Good evidence in litCreated: 24 Nov 2015, 4:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy (#250100)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Metachromatic leukodystrophy (#250100)
- 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
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia
- Hereditary ataxia, adult onset
- DDG2P
- Leukodystrophy, adult onset
- Early onset dystonia
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
History Filter Activity
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Nov 2015, Gel status: 0
Created
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)ARSA was created by jonathan.williams
24 Nov 2015, Gel status: 0
Added New Source
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)ARSA was added to Hereditary ataxiapanel. Sources: Expert Review