Childhood onset hereditary spastic paraplegia
Gene: PLP1EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
4 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Adult and childhood onset; evidence of expressing carrier females detailed in review by K Inoue 2005 PMID:15627202.Created: 10 May 2019, 7:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In current HSP panel and In Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked recessive, 312920
Arianna Tucci (Genomics England Curator)
onset in infancyCreated: 14 Jan 2019, 5:18 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Spastic paraplegia 2, X-linked, 312920
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited white matter disorders
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset dystonia
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to PLP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PLP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PLP1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: onset in infancy
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: PLP1 was added gene: PLP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,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 Saugier-Veber et al (1994) Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked