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Incidentalome

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Mutations in PRNP gene can lead to a clinical diagnosis of a genetic prion disease. There are three main diseases characterised by genetic prion disease - Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome all with dementia being a phenotypic overlap.

Established gene-disease association and is reported in individuals with a clinical diagnosis of AD and or FTD.

PubMed: 6351815
CJD reported in at least 3 unrelated individuals who developed rapidly progressive dementia.
Created: 16 Aug 2023, 12:29 a.m. | Last Modified: 16 Aug 2023, 12:29 a.m.
Panel Version: 0.179

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)

Publications

Created: 16 Aug 2023, 12:29 a.m.
Last Modified: 16 Aug 2023, 12:29 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.179

History Filter Activity

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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRNP was set to Unknown