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  3. PLP1
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Hereditary Spastic Paraplegia - paediatric

Gene: PLP1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Allelic disorder to Pelizaeus-Merzbacher disease.
Sources: Expert list
Created: 18 Apr 2020, 8:03 a.m.

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

Phenotypes
Spastic paraplegia 2, X-linked, MIM# 312920

Publications

Created: 18 Apr 2020, 8:03 a.m.

Panel version: 0.41

History Filter Activity

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plp1 has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plp1 has been classified as Green List (High Evidence).

18 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLP1 was added gene: PLP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 15627202; 8012387 Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked, MIM# 312920 Review for gene: PLP1 was set to GREEN