Hereditary spastic paraplegia
Gene: PLP1EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
3 reviews
helen kingston (CMFT NHS Foundation Trust, Manchester)
Ellen McDonagh (Genomics England Curator)
This gene is on the Hereditary Spastic Paraplagia (HSP) NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 14 Jun 2016, 9:36 a.m.
emma baple (Genomics England Curator)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Spastic paraplegia 2, X-linked
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- Complete
- Publications
-
- Saugier-Veber et al (1994)
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Adult onset leukodystrophy
- DDG2P
- Childhood onset hereditary spastic paraplegia
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
emma baple (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
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen