Inherited white matter disorders
Gene: PLP1EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
3 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_591
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 10:43 a.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 10:43 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: X-linked recessive.Created: 5 Aug 2016, 9:26 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for LEUKODYSTROPHY HYPOMYELINATING TYPE 1, multiple cases and different variants reported in OMIM for Pelizaeus-Merzbacher disease. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.Created: 5 Aug 2016, 9:26 a.m.
Phenotypes and mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 10:41 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- UKGTN
- Eligibility statement prior genetic testing
- Other
- Phenotypes
-
- Pelizaeus-Merzbacher disease 312080
- Spastic paraplegia 2, X-linked 312920 Edit
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Adult onset leukodystrophy
- Early onset dystonia
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PLP1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920 Edit
Upload gene information
Sarah Leigh (Genomics England Curator)PLP1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920
Upload gene information
Sarah Leigh (Genomics England Curator)PLP1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920
Set publications
Sarah Leigh (Genomics England Curator)Publications for PLP1 were set to 25655951
Added New Source
Ellen McDonagh (Genomics England Curator)PLP1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other
Created
Ellen McDonagh (Genomics England Curator)PLP1 was created by ellenmcdonagh