Ataxia - adult onset
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Ataxia is generally a manifesting feature (along with cognitive difficulties and myoclonus) of genetic prion disease.Created: 13 Oct 2022, 2:25 a.m. | Last Modified: 13 Oct 2022, 2:25 a.m.
Panel Version: 0.175
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inherited Creutzfeldt-Jakob disease MONDO:0007403; ataxia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Multiple allelic disorders reported
- Huntington disease-like 1
- Autosomal Dominant Ataxia
- Gerstmann-Straussler disease
- Insomnia, fatal familial
- Creutzfeldt-Jakob disease
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prnp has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PRNP were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRNP was added gene: PRNP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease