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  3. PLP1
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Fetal anomalies

Gene: PLP1

Red List (low evidence)
PLP1 (proteolipid protein 1)
EnsemblGeneIds (GRCh38): ENSG00000123560
EnsemblGeneIds (GRCh37): ENSG00000123560
OMIM: 300401, Gene2Phenotype
PLP1 is in 17 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

Not detectable antenatally.

From Genereviews:

PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.
Created: 7 Feb 2022, 12:35 a.m. | Last Modified: 7 Feb 2022, 12:35 a.m.
Panel Version: 0.3151

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

Phenotypes
Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2022, 12:35 a.m.
Last Modified: 7 Feb 2022, 12:35 a.m.
Panel version: 0.3151

History Filter Activity

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plp1 has been classified as Red List (Low Evidence).

8 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLP1 were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2 to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920

8 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLP1 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLP1 was added gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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; SPASTIC PARAPLEGIA X-LINKED TYPE 2