This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: PLP1
PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 15 panels
1 review
Emily Jones (North Bristol NHS Trust)
Predominant features of disorder appear to be spasticity and ataxia. Dystonia can also be present. 70% of cases have a duplication of PLP1Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Pelizaeus-Merzbacher disease, 312080
- Spastic paraplegia 2, X-linked, 312920
- OMIM
- 300401
- Clinvar variants
- Variants in PLP1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset leukodystrophy
- DDG2P
- Fetal anomalies
- Intellectual disability
- Inherited white matter disorders
- Childhood onset hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset hereditary spastic paraplegia
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Pelizaeus-Merzbacher disease, 312080; Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to PLP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PLP1 was added gene: PLP1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PLP1 was set to