Genes in panel

Adult onset movement disorder

Gene: PLP1

Amber List (moderate evidence)

PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 16 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

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.

Phenotypes
Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920

Publications

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

27 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: plp1 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 Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1 Publications for gene PLP1 were changed from to 30046645; 11093273

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PLP1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PLP1.

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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