1. Panels
  2. Fetal anomalies
  3. PLP1
Genes in panel
Prev Next

Fetal anomalies

Gene: PLP1

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

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLP1 gene rating from Green to Red.
Created: 30 Apr 2019, 8:24 a.m.
DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY HYPOMYELINATING TYPE 1 and Confirmed for SPASTIC PARAPLEGIA X-LINKED TYPE 2.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for LEUKODYSTROPHY HYPOMYELINATING TYPE 1, and listed as Uncertain for SPASTIC PARAPLEGIA X-LINKED TYPE 2.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.228

History Filter Activity

30 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PLP1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 for gene: PLP1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PLP1 was added gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1