Dystonia - complex
Gene: PLP1

PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Dystonia has been reported as a feature of PMD in two cases/families. It does not appear to be a prominent feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 4:19 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Pelizaeus-Merzbacher disease MIM#312080

Publications

Created: 6 Apr 2020, 4:19 a.m.

Panel version: 0.38

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Red
Expert list

Phenotypes

Pelizaeus-Merzbacher disease MIM#312080

OMIM

300401

Clinvar variants

Variants in PLP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plp1 has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLP1 was added gene: PLP1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 30046645; 19396823 Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080 Review for gene: PLP1 was set to RED

Dystonia - complex Gene: PLP1