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Hereditary Neuropathy - complex

Gene: PRNP

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Truncating variants in PRNP associated with a complex neuropathy phenotype in multiple families. Also, null mice and goat animal models with neuropathy.
Created: 14 Aug 2023, 3:46 a.m. | Last Modified: 14 Aug 2023, 3:46 a.m.
Panel Version: 0.266

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
peripheral neuropathy; chronic diarrhea; dementia

Publications

Created: 14 Aug 2023, 3:46 a.m.
Last Modified: 14 Aug 2023, 3:46 a.m.
Panel version: 0.266

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Neuropathy not an established feature of PRNP-related CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.
Created: 8 Aug 2023, 6:21 a.m. | Last Modified: 8 Aug 2023, 6:22 a.m.
Panel Version: 0.218

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

Phenotypes
Inherited prion disease; Cerebral amyloid angiopathy, PRNP-related (MIM#137440)

Publications

Created: 8 Aug 2023, 6:21 a.m.
Last Modified: 8 Aug 2023, 6:22 a.m.
Panel version: 0.216

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Prion diseases
  • peripheral neuropathy
  • chronic diarrhea
  • dementia
OMIM
176640
Clinvar variants
Variants in PRNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

14 Aug 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PRNP were changed from Prion diseases to Prion diseases; peripheral neuropathy; chronic diarrhea; dementia

14 Aug 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PRNP were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRNP was added gene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRNP were set to Prion diseases