Inherited white matter disorders
Gene: PLP1
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
Variants in this GENE are reported as part of current diagnostic practice
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.
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.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Mode of inheritance for PLP1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920 Edit
PLP1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920
PLP1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list
Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920
Publications for PLP1 were set to 25655951
PLP1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other
PLP1 was created by ellenmcdonagh