Adult onset movement disorderGene: PLP1
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.
Predominant features of disorder appear to be spasticity and ataxia. Dystonia can also be present. 70% of cases have a duplication of PLP1
Created: 23 Apr 2019, 12:14 p.m.
Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920
Mode of pathogenicity
Other - please provide details in the comments
Gene: plp1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1 Publications for gene PLP1 were changed from to 30046645; 11093273
Source NHS GMS was added to PLP1.
Source South West GLH was added to PLP1.
gene: PLP1 was added gene: PLP1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PLP1 was set to Phenotypes for gene: PLP1 were set to Dystonia