1. Panels
  2. Early-onset Parkinson disease
  3. PRNP
Regions in panel
Prev Next

Early-onset Parkinson disease

Gene: PRNP

Green List (high evidence)
PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 9 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

gCJD and GSSS present with Parkinsonian disorder
Created: 25 Aug 2023, 5:43 a.m. | Last Modified: 25 Aug 2023, 5:43 a.m.
Panel Version: 0.243

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
inherited Creutzfeldt-Jakob disease MONDO:0007403; Gerstmann-Straussler-Scheinker syndrome MONDO:0007656

Publications

Created: 25 Aug 2023, 5:43 a.m.
Last Modified: 25 Aug 2023, 5:43 a.m.
Panel version: 0.243

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • inherited Creutzfeldt-Jakob disease MONDO:0007403
  • Gerstmann-Straussler-Scheinker syndrome MONDO:0007656
OMIM
176640
Clinvar variants
Variants in PRNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRNP were changed from to inherited Creutzfeldt-Jakob disease MONDO:0007403; Gerstmann-Straussler-Scheinker syndrome MONDO:0007656

29 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRNP were set to

29 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRNP was added gene: PRNP was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PRNP was set to Unknown