Hereditary spastic paraplegia

Gene: PLP1

Green List (high evidence)

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

3 reviews

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

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)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hereditary spastic paraplegia; Pelizaeus-Merzbacher disease

Publications

History Filter Activity

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

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

9 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

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

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 1

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen