Leukodystrophy - adult onset
Gene: PLP1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Classically presents in infancy in affected males. Female carriers can occasionally be affected, and onset in adulthood has been described.
Created: 11 May 2020, 3:46 a.m. | Last Modified: 11 May 2020, 3:46 a.m.

Panel Version: 0.58

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

Phenotypes
Pelizaeus-Merzbacher disease, MIM# 312080

Publications

16130097

Created: 11 May 2020, 3:46 a.m.
Last Modified: 11 May 2020, 3:46 a.m.
Panel version: 0.58

Details

Mode of Inheritance

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

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Pelizaeus-Merzbacher disease, 312080

OMIM

300401

Clinvar variants

Variants in PLP1

Penetrance

None

Publications

16130097

Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plp1 has been classified as Green List (High Evidence).

11 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLP1 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PLP1 was added gene: PLP1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080

Leukodystrophy - adult onset Gene: PLP1