Inherited white matter disorders

Gene: PLP1

Green List (high evidence)

PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels

3 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

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

History Filter Activity

6 Oct 2016, Gel status: 4

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.

5 Aug 2016, Gel status: 4

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

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920 Edit

6 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

PLP1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920

6 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

PLP1 was added to Inherited white matter disorderspanel. Sources: UKGTN,Expert list

6 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PLP1 were set to Pelizaeus-Merzbacher disease 312080; Spastic paraplegia 2, X-linked 312920

6 Jul 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PLP1 were set to 25655951

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLP1 was added to Inherited white matter disorderspanel. Sources: Eligibility statement prior genetic testing,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLP1 was created by ellenmcdonagh