Inherited white matter disorders
Gene: ARSAEnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_631
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 3:01 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 2:58 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
- OMIM
- 607574
- Clinvar variants
- Variants in ARSA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Lysosomal storage disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ARSA were set to Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100
Set publications
Sarah Leigh (Genomics England Curator)Publications for ARSA were set to 25655951; 2574462; 1670590
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)ARSA was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)ARSA was added to Inherited white matter disorderspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)ARSA was added to Inherited white matter disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)ARSA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ARSA was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen