Hereditary spastic paraplegia
Gene: PLP1
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.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease
Publications
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PLP1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PLP1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen
PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen