White matter disorders and cerebral calcification - childhood onset
Gene: PLP1
PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 2, X-linked 312920 Edit
- Pelizaeus-Merzbacher disease 312080
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary spastic paraplegia, adult onset
- Hereditary spastic paraplegia, childhood onset
- Inherited white matter disorders
- Fetal anomalies
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Early onset dystonia
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- DDG2P
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PLP1 was added gene: PLP1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green 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 25655951 Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked 312920 Edit; Pelizaeus-Merzbacher disease 312080