Adult onset movement disorderGene: AFG3L2
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.
Associated with AR and AD ataxia. Dystonia can also be a feature. Mean age of onset is adulthood.
Created: 23 Apr 2019, 12:14 p.m.
Mode of inheritance for gene: AFG3L2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were changed from Dystonia to Dystonia; Spastic ataxia 5, autosomal recessive, 614487; Spinocerebellar ataxia 28, 610246
Gene: afg3l2 has been classified as Green List (High Evidence).
Added phenotypes Dystonia for gene: AFG3L2
Source NHS GMS was added to AFG3L2.
Source South West GLH was added to AFG3L2.
gene: AFG3L2 was added gene: AFG3L2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: AFG3L2 was set to Phenotypes for gene: AFG3L2 were set to Dystonia