Hyperammonaemia
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
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metachromatic leukodystrophy, aryl sulphatase A deficiency
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Metachromatic leukodystrophy 250100
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intellectual disability
- 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
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
22 Nov 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ARSA were set to Metachromatic leukodystrophy 250100
22 Nov 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ARSA was changed to BIALLELIC, autosomal or pseudoautosomal
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ARSA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory