Adult onset dystonia, chorea or related movement disorder
Gene: ARSA
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.
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
Mode of inheritance for gene: ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, 250100; Dystonia to Metachromatic leukodystrophy, OMIM:250100
Gene: arsa has been classified as Amber List (Moderate Evidence).
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA Publications for gene ARSA were changed from to 20301334
Source NHS GMS was added to ARSA.
Source South West GLH was added to ARSA.
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