Childhood onset hereditary spastic paraplegia
Gene: PLP1
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
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.
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
onset in infancyCreated: 14 Jan 2019, 5:18 p.m.
Source Yorkshire and North East GLH was added to PLP1.
Source NHS GMS was added to PLP1.
Source London North GLH was added to PLP1.
Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Arianna Tucci: onset in infancy
Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Phenotypes for gene: PLP1 were changed from Spastic paraplegia 2, X-linked to Spastic paraplegia 2, X-linked, 312920
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