Adult onset dystonia, chorea or related movement disorder
Gene: PLP1EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
Predominant features of disorder appear to be spasticity and ataxia. Dystonia can also be present. 70% of cases have a duplication of PLP1Created: 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
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- South West GLH
- Phenotypes
-
- Pelizaeus-Merzbacher disease, 312080
- Spastic paraplegia 2, X-linked, 312920
- Dystonia
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Childhood onset hereditary spastic paraplegia
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: plp1 has been classified as Amber List (Moderate Evidence).
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PLP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to PLP1.
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