Hereditary spastic paraplegia - childhood onset

Gene: PLP1

Green List (high evidence)

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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)

I don't know

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)

Green List (high evidence)

In current HSP panel and In Sheffields HSP panel
Created: 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 infancy
Created: 14 Jan 2019, 5:18 p.m.

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PLP1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PLP1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PLP1.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: onset in infancy

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PLP1 were set to Saugier-Veber et al (1994)

28 Jan 2019, Gel status: 4

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

19 Dec 2018, Gel status: 4

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