Genes in panel

Adult onset movement disorder

Gene: ARSA

Amber List (moderate evidence)

ARSA (arylsulfatase A)
EnsemblGeneIds (GRCh38): ENSG00000100299
EnsemblGeneIds (GRCh37): ENSG00000100299
OMIM: 607574, Gene2Phenotype
ARSA is in 20 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

I don't know

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

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: arsa has been classified as Amber List (Moderate Evidence).

23 Apr 2019, Gel status: 1

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARSA.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ARSA.

3 Jan 2019, Gel status: 1

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